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Some people seem to be born with a happier, carefree disposition than others, and research indicates that yes some of your sense of well-being may be in your genes. But only partly.

Your genes make up an estimated 40% of your ability to be happy, says psychotherapist Susan Zinn of Susan Zinn Therapy in Santa Monica, California.

But that doesn't mean that if you weren't born with certain genes, you're destined to be unhappy. Zinn says that "it's completely possible to rewire our brains for happiness," because the other 60% of happiness comes down to lifestyle and other environmental factors.

Learn more about how your genetic makeup contributes to your life satisfaction and how you can increase feelings of happiness and well-being regardless of what your genetic sequence might say about you.

Happiness is typically determined by three main components, according to Zinn:

Research indicates that we can inherit many traits including optimism, self-esteem, and happiness. So by that logic, yes, there are genes that may predispose you to a happier disposition.

For example, a 2011 study found promising evidence that people with a certain form of the gene called 5-HTTLPR reported higher life satisfaction.

And a landmark study in 2016 that formally linked happiness to genetics involved the DNA of nearly 300,000 people. The researchers pinpointed three specific genetic variants associated with well-being. But they also found that these genetic variations weren't the only factor. An interplay of genetics and environment also contributed to happiness.

Despite your genetic makeup, there are ways you can learn to be happier, even in difficult times. Other traits, such as resilience, can be cultivated over time.

"You have a choice," Zinn says. "It's no different than deciding what to wear or what food to order. When it comes to happiness, there's a lot we can do about it."

One way to achieve a happier state is to let go of a quest for perfectionism that focuses only on the end goal of success, Zinn says. Linking happiness with perfectionism and success is common in American culture, but it leads you to concentrate on the summit of what you want to achieve rather than the journey of what happens along the way.

Here are some other practical ways to choose happiness:

Although research suggests that happiness is inherited to some extent, you're not limited by your DNA. The ability to feel happy takes practice and can be achieved with the right mindset.

Volunteering, exercise, nature, and attention to gratitude practices are just a few things you can do to increase your sense of life satisfaction, well-being, purpose, and ultimately, happiness.

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Scientists think about 40% of happiness is genetic while the rest comes down to 3 main components - Insider - INSIDER

Happiness is significantly determined at birth.

Or so says psychotherapist Susan Zinn, who runs an eponymous therapy practice in Santa Monica, California.

Close to 40% of human happiness is a result of good genes, Zinn told Insider this month. The claim is backed by research published in 2016 in the Journal of Happiness Studies.

[Genetic] influencesaccount for 3240% of the variation in overall happiness, the studys authors wrote in its abstract.

For example, having a specific variation of the gene 5-HTTLPR, according to a separate 2011 study, was found to likely contribute to humans having higher life satisfaction.

Having joyous DNA doesnt promise people a contented life, though. More than half of the factors which determine happiness levels relate to nurture, not nature, Zinn said.

[Its] completely possible to rewire our brains for happiness, said Zinn. You have a choice. Its no different than deciding what to wear or what food to order. When it comes to happiness, theres a lot we can do about it.

What determines a happy existence, lucky genes or not, breaks down into three main parts: How satisfied you are with your life, how engaged you are with daily activities from your relationships to your job and how much purpose you feel you have.

For those seeking to lead happier lives, Zinn recommends dropping the pursuit for perfection and instead focusing energy on volunteering, laughing, feeling grateful, eating well, exercising and connecting with a higher power or otherwise tapping into spirituality to find more purpose.

One survey this year found that acting spontaneously can also be a key to happiness. Another study identified enjoying short-term pleasures as a good strategy for achieving peace of mind.

In addition to good genes, having money has also been found to be correlated with increased happiness despite the old adage.

Americans as a whole, however, are nationally bummed out more than they have been in close to 50 years. Comparatively, Hawaii has been found to be the happiest state.

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Nearly half of happiness is genetic, so most of us are doomed - New York Post

Tara Kirk, pictured with her husband, found out she has a gene mutation that puts her at higher risk for several cancers.

Source: Tara Kirk

Tara Kirk was 6 years old when her mother died of lung cancer.

Almost three decades later, at the age of 34, Kirk found out she had a gene mutation that increases her risk of developing a number of diseases, most notably colon and endometrial cancers.

"I was in denial that I could have had it," said Kirk, now 36 and living in Houston with her husband and son.

When people think of gene mutations, the breast cancer (BRCA) genes often come to mind. Actress Angelina Jolie famously laid out her decision to have a preventive double mastectomy after her BRCA1 diagnosis back in 2013.

The lifetime risk of breast cancer is increased by 20% to 49% for women with moderate-risk gene mutations and 50% or higher with those who have high-risk mutations, according to Susan G. Koman.

Angelina Jolie had a preventive double mastectomy in 2013, after discovering she had a BRCA mutation.

Samir Hussein | WireImage | Getty Images

In fact, researchers have associated mutations in specific genes with about 50 hereditary cancer syndromes, according to the National Cancer Institute.

For Kirk, it is the gene known as MSH6, one of several mutations that are classified as Lynch Syndrome.

While there was family history of cancer, she only got tested after her aunt was diagnosed with endometrial cancer. Kirk now believes her mother's cancer may have started elsewhere before traveling to the lungs.

Since her diagnosis, Kirk goes for annual screenings, including a colonoscopy, endometrial biopsy, ultrasound, and full body skin exam. She gets an upper endoscopy every other year and was told when she reaches 40, she should have her uterus and ovaries removed.

Fortunately, Kirk has insurance. About $3,500 a year comes out of her paycheck to pay for her employer-sponsored insurance and she spends an additional $2,000 a year out-of-pocket for her surveillance. It's a small price to pay for the chance to catch cancer early, she said.

"My very first colonoscopy they found a precancerous polyp, so knowledge saved my life," Kirk said.

Not everyone is a candidate for genetic testing. In fact, only about 5% to 10% of all cancers are considered hereditary, although it varies by the specific cancer.

About one in 400 women have a BRCA1 or BRCA2 mutation, although those of Ashkenazi Jewish heritage have a higher risk: one in 40. Lynch syndrome affects approximately one in 270 people and causes about 3% to 5% of colon cancers and 2% to 3% of uterine cancers.

Tara Kirk and her mom in December 1988.

Source: Tara Kirk

To determine if you have a gene mutation, first gather your family history and see your doctor, said Susan Brown, senior director of education and support at Susan G. Komen.

If your health-care provider thinks you might have a hereditary mutation, you'll be referred to a genetic counselor, who may order a blood or saliva test.

"It's an easy test," Brown said. "The ramifications of the results can be a little more complicated.

"If you have a positive mutation, then you have to think about what you are going to do with that information."

Testing costs anywhere from a couple hundred dollars to several thousand dollars and may be covered by insurance. The multigene panel is pricey, since it surveys a number of genes.

If someone in your family has already been diagnosed with a specific mutation, you can be tested for that mutation alone, which is a lot cheaper. For those who don't have health insurance, many of the gene-testing companies have programs that bring the cost down to $250 to $300.

My very first colonoscopy they found a precancerous polyp, so knowledge saved my life.

Tara Kirk

Lynch Syndrome patient

Coverage of BRCA testing for women is required under the Affordable Care Act, although the fate of the law is uncertain. The U.S. Supreme Court is set to hear arguments on whether the ACA is constitutional after the election in November.

Coverage for other gene mutations is optional, but has grown in recent years, according to Lisa Schlager, vice president of public policy at the hereditary cancer advocacy organization FORCE, which stands for Facing Our Risk of Cancer Empowered.

"They do [cover testing] for the most part, but it can incur or involve out-of-pocket costs," she said.

Then there are direct-to-consumer companies like 23andMe and Ancestry. Generally, direct-to-consumer tests are not part of recommended clinical practice, according to the National Cancer Institute.

"If they are not done through a doctor in an approved lab, there is potential for errors," Komen's Brown explained.

Some tests may only check for a few mutations.

"You may make a decision and have an understanding of your risk based on incomplete information," she said.

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For $179, AncestryHealth offers testing for genetic risks and says it can detect 80% or more of known DNA differences linked to certain cancers.

"AncestryHealth includes laboratory tests developed and performed by an independent CLIA-certified laboratory partner, and with oversight from an independent clinician network of board-certified physicians and genetic counselors," its website states.

Meanwhile, 23andMe's Health + Ancestry service includes testing for selected variants of BRCA1 and BRCA2.

"23andMe standards for accuracy are incredibly high," the company said in a statement. "Detailed analytical testing through the FDA review process showed that our Genetic Health Risk and Carrier Status reports meet accuracy thresholds of 99 percent or higher."

If you are found to have a so-called "cancer-gene," you generally will start undergoing annual cancer screenings. You may also opt for preventive, or prophylactic, surgery typically a mastectomy or hysterectomy.

The costs and amount of insurance coverage if you have any vary widely.

Heather Horton, 35, and her mother, 63-year-old Sue Williams, have had two vastly different experiences.

Heather Horton, L, and her mother, Sue Williams both have a gene mutation that is associated with a higher risk of several cancers, including colon.

Source: Sue Williams

The pair, who live in Portland, Oregon, both have the MLH1 mutation, another gene that falls under Lynch Syndrome.

Williams found out at the age of 54, after her brother was diagnosed with colon cancer in his 40s. She's had no issue with her coverage. She had a preventative hysterectomy and now undergoes regular colonoscopies and endoscopies, which cost her $20 after insurance. She pays $812 a month for her policy.

Horton, on the other hand, has become an expert at reading medical bills and understanding coding after spending a lot of time challenging charges.

Diagnosed at 28 years old, Horton gets the same screenings as her mom, plus ultrasounds, a blood test and an endometrial biopsy to monitor her uterus and ovaries. Over the years, her annual screening costs have run from about $800 to $2,500, with around $1,500 being the norm. Her monthly premium is about $520 for a family plan.

"One of the biggest challenges is [that] it's hard to really track or budget for, because I can't ever really estimate what the expenses are going to be," Horton said.

Health insurers aren't required to cover cancer screenings, beyond what is mandated by the ACA, which is focused on the "average risk" population. That leads many to struggle to get coverage for earlier, more intensive screenings and risk-reducing surgeries, according to FORCE.

While insurance typically covers the surveillance, those who have high-deductible plans may still wind up with a hefty bill, said FORCE's Schlager.

"We are testing people but not empowering them with easy access, necessarily, to the follow-up care," she said.

Medicare doesn't cover preventive care, unless authorized by Congress. Right now, those over 50 years old can get screening colonoscopies covered and those over 40 can get screening mammograms as well as a baseline between the ages of 35-39. However, anyone younger on Medicare, such as those with disabilities, won't be covered.

Medicare also doesn't cover breast MRIs, which doctors recommend for those with a high breast cancer risk, as well as preventive surgeries, Schlager said.

Our whole health system is focused on treatment. If we were to flip that and focus on prevention, we would probably save the system a lot of money long-term.

Lisa Schlager

vice president of public policy at FORCE

She's currently working on legislation with Sen. Lisa Murkowski, R-Alaska, and Rep. Debbie Wasserman Schultz, D-Florida, to amend the Medicare statute to broaden the preventive cancer screenings.

Medicaid coverage for screenings is more difficult to track, since it varies by state. All but three state programs cover BRCA testing and most cover testing for Lynch Syndrome. Less than a handful cover multigene panel testing, Schlager said. She recommends checking with your state's Medicaid office to find out what's available.

"Our whole health system is focused on treatment," Schlager said.

"If we were to flip that and focus on prevention, we would probably save the system a lot of money long-term. But we are just not there yet."

While there may be costs with cancer screenings, it is better than the alternative: not catching cancer early and paying for costly treatments.

"It is really managing your destiny as far as your health," said Susan Dallas, executive director of Lynch Syndrome International.

Her father passed away from pancreatic cancer when she was four years old. At 43, Dallas was diagnosed with colon cancer, and subsequently, Lynch Syndrome, which includes genes MLHL, MSH2, MSH6, PMS2, and EPCAM.

"If you don't know what you are dealing with, you can't possibly know what your potential cost could be down the road," Dallas said.

"It could save you thousands and thousands of dollars, not to mention the heartache, stress and loss of income because you end up with cancer."

In fact, a new report from the American Cancer Society Cancer Action Network titled "The Costs of Cancer" found that U.S. cancer patients spent $5.6 billion in out-of-pocket costs for cancer treatment in 2018. Those with ACA-compliant coverage paid between $5,000 out-of-pocket in a large employer plan to over $12,000 in an individual marketplace plan. Short-term limited duration plan patients paid $52,000.

Despite the frustrations she has encountered, Horton doesn't regret getting tested.

"Knowledge is power. We do have some of this within our control to stay on top of it," she said.

"There is some comfort in that, than just kind of waiting for some symptom to appear."

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Genetic testing can assess your risk of getting cancer. Here are the costs involved - CNBC

The historic Silk Road is responsible for one of the world's most popular fruits: the domesticated apple.

In a new study tied to the Silk Road, researchers have found genetic insights that could help plant breeders improve the crop's flavor, texture and resistance to stress and disease.

"It's amazing how well this research aids us. It's like getting a 23andMe DNA test done on your family ancestry: so much information," said Susan Brown of Cornell University, one of the nation's best-known apple breeders.

Zhangjun Fei, lead researcher on the project, a faculty member at the Boyce Thompson Institute andassociate professor at Cornell, said the discovery of new genomic information can help breeders make better apples.

The research began with an idea: to trace apple varieties' origins in hopes of learning more about their genomes, or genetic material.

According to Fei, the modern apple's two main wild progenitors, or ancestors, were the European crabapple (M. sylvestris) and the central Asian wild apple (M. sieversii). Crabapples were small and crunchy; Asian apples were large and soft.

"Those early wild species weren't so tasty," said Fei.

That's where the Silk Road comes in.

"Silk Road" is a misnomer, a blanket term for the many trade routes that crisscrossed Central Asia and Europe in antiquity, according to Princeton University historian Khodadad Rezakhani.

Historians say travelers would often snack along the Silk Road, picking a crabapple or Asian apple in one spot, eating it and tossing its core often miles away. The seeds grew into new trees, which naturally cross-bred. Cross-breeding continued, creating thousands of varieties.

As apples became a major commodity, breeders developed more cultivars.

But hybridizations with wild species have made the apple genome complex and difficult to study.

Fei, Gan-Yuan Zhong, a USDA Agricultural Research Service scientist, and a large team of multidisciplinary researchers realized the apple's unique domestication history could lead to untapped sources of genes that could be used for crop improvement.

The team compared three genomes: of the modern Gala apple, the European crabapple and the central Asian wild apple, which together account for about 90% of a domesticated apple's genome.

"We learned so much," said Fei.

The researchers identified which progenitor species and which genome regions contributed which traits. For example, they found the gene giving an apple its crunchy texture is located near the gene that makes it susceptible to blue mold.

"That provides us and breeders with an even deeper understanding of the genetic diversity underlying a particular trait," said Zhong in a statement.

Brown, the apple breeder, said linked traits like this are challenging, because the crunchiness and blue mold susceptibility genes are so close together on the chromosome. But knowing which is which, she said, will help her to use molecular markers for targeted breeding.

Brown said the research will be "incredibly useful" to the nation's top apple breeders, Kate Evans of Washington State University and Jim Luby of the University of Minnesota, along with private breeders such as the Midwest Apple Improvement Association.

"You know the Honeycrisp? That's my favorite. Think of all the new apples we might have," said Fei.

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Silk Road reveals genetic insights that may revolutionize apple breeding - Capital Press

Scientists have pinpointed the location of all the genes in the genetic code of sheep, a move that will provide more accurate research into traits such as health and resilience.

The new discovery will help improve the existing high-quality map of sheep DNA, with one of the highest resolutions in a livestock species to date.

Outcomes from the research, which included analysis of multiple tissues from all organs, can be used to investigate how specific regions of the genetic makeup of sheep affect their physical and physiological characteristics.

The map was built from a single sheep from the Rambouillet breed, which are known for their high quality fleece and for being able to live in harsh conditions.

UK scientists from the Roslin Institute and international partners identified points in the genome where the process of switching on genes starts known as transcription start sites.

They used a technique called Cap Analysis Gene Expression (CAGE) sequencing to identify the start sites of the vast majority of genes in the Rambouillet reference genome, which was generated by scientists from Baylor College of Medicine in the US, and is a database that is representative of all the genes and genetic code for sheep.

Dr Emily Clark, of the Roslin Institute said: "Sheep are hugely important farmed animals, providing a key global source of meat and fibre.

"The high-resolution annotation of transcription start sites in the genome that we have generated will give scientists a better map of the genome upon which to base their studies."

Dr Brenda Murdoch, of the University of Idaho's Ovine Functional Annotation of Animal Genomes (FAANG) added: "This research identifies the location that control economically important traits like health, meat and wool quality in sheep.

"It is this type of information that is essential to help breeding programmes select and predict traits to improve the sustainability and productivity of this globally important species."

The study, led by Roslin scientists within the Centre for Tropical Livestock Genetics and Health, was conducted as part of the Ovine FAANG project.

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Sheep genetic code insights pave way for improved traits - FarmingUK

Background:Emotional distress associated with genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) is reported to interfere with adherence to treatment and prophylactic measures and compromise quality of life.

Objectives:To determine levels of anxiety, depression, and quality of life in patients tested for pathogenic BRCA1/2 mutations and identify risk factors for the development of adverse psycho-emotional effects.

Methods:Cross-sectional observational trial involving 178 breast or ovarian cancer patients from a referral cancer hospital in Northeastern Brazil. Information was collected with the Hospital Anxiety and Depression Scale (HADS) and the World Health Organization (WHO) Quality of Life (QoL) questionnaire (WHOQOL-BREF).

Results:Patients suspected of HBOC had higher levels of anxiety than depression. The presence of (probably) pathogenic BRCA1/2 mutations did not affect levels of anxiety and depression. High schooling, history of psychiatric disease, and use of psychotropic drugs were directly associated with high anxiety. High schooling was too inversely associated with QoL as such a breast tumor. Anxiety and depression were directly correlated and both reduced significantly QoL.

Conclusion:Our results highlight the importance of psychological support and screening of risk factors for anxiety and depression and low QoL in HBOC patients at the time of testing.

Keywords:Anxiety; Breast cancer; Depression; Hereditary breast and ovarian carcinoma syndrome; Quality of life.

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How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial - DocWire...

SAN DIEGO, Nov. 05, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced the publication of a study led by scientists and clinicians from the Institute for Human Genetics and the Benioff Childrens Hospital at the University of California, San Francisco (UCSF) that evaluated the ability of Bionanos optical genome mapping technology and another genome analysis method to diagnose children with genetic conditions who previously went undiagnosed by the standard of care methods alone. Of the 50 children in the study, the optical genome mapping results were sufficient to definitively diagnose 6 patients (or 12%) and, for another 10 patients (or 20%), the Bionano data revealed candidate pathogenic variants. Upon further analysis, it is expected that an additional 3 patients could be diagnosed with the Bionano data, bringing the total of definitively diagnosed patients to 9 (or 18%).

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented, Increasing the number of patients who receive a definitive molecular diagnosis is the driving force behind much of the development of new diagnostic technologies. Every major change in medical guidelines connected to introducing novel methods has been driven by the ability of new methods to diagnose more patients than the previously existing standard of care. This study by the UCSF team shows that Bionanos optical genome mapping can potentially bring another such leap to the clinic by diagnosing many more patients than what existing chromosomal microarray (CMA) and whole exome sequencing (WES) can. Several studies released this year have shown that Saphyr can detect all clinically relevant variants identified by karyotyping, microarray and FISH in both leukemias and genetic disease cases. This UCSF study now shows in the largest cohort analyzed to date that Bionanos optical genome mapping diagnoses more patients than the traditional methods. We believe the increase in diagnosis over conventional methods can be a significant factor in Saphyr gaining widespread adoption as a clinical tool for genetic disease diagnosis and next-generation cytogenomics.

As described in the publication, the UCSF team performed full genome analysis by combining optical genome mapping with Bionano technology and linked-read sequencing on 50 undiagnosed patients with a variety of rare genetic diseases and their parents to determine if this full genome analysis method could help solve cases that had not been diagnosed with previous testing. Of the 50 cases, 42 were previously analyzed by CMA, the first tier medical test for genetic disease cases, and 23 had previously been analyzed with commercial trio whole exome sequencing, and no pathogenic or likely pathogenic variants were identified by these methods.

Bionanos optical genome mapping technology identified a number of pathogenic variants unidentified by CMA and undetectable by WES, including duplications and deletions that were too small to be identified by CMA, or occurred in regions of the genome not typically covered by CMA or WES. Of the additional 7 patients with variations considered to be candidates for pathogenic variants, the findings included deletions, duplications, and inversions. Before concluding that these variants are sufficient to diagnose the patients, further analysis is required since these variants had not previously been reported in patients with similar disease.

The publication is available at: https://www.medrxiv.org/content/10.1101/2020.10.22.20216531v1A recording of the webinar is available at: https://bionanogenomics.com/webinars/optical-mapping-in-rare-genetic-disease-diagnosis/

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visitwww.bionanogenomics.com or http://www.lineagen.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the contribution of Bionanos technology to the diagnosis of more genetic disease patients when compared to traditional standard of care methods; the capabilities of Bionanos technology in comparison to other genome analysis technologies; our expectations regarding the adoption of Saphyr as a clinical tool for genetic disease diagnosis and next-generation cytogenomics; and Bionanos strategic plans. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Darren Opland, PhDLifeSci Communications+1 (617) 733-7668darren@lifescicomms.com

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Largest Study To-Date Focused on Undiagnosed Genetic Disease Patients Reveals That Bionano's Optical Genome Mapping Technology Can Diagnose...

Trusted Business Insights answers what are the scenarios for growth and recovery and whether there will be any lasting structural impact from the unfolding crisis for the Rare Disease Genetic Testing market.

Trusted Business Insights presents an updated and Latest Study on Rare Disease Genetic Testing Market 2020-2029. The report contains market predictions related to market size, revenue, production, CAGR, Consumption, gross margin, price, and other substantial factors. While emphasizing the key driving and restraining forces for this market, the report also offers a complete study of the future trends and developments of the market.The report further elaborates on the micro and macroeconomic aspects including the socio-political landscape that is anticipated to shape the demand of the Rare Disease Genetic Testing market during the forecast period (2020-2029).It also examines the role of the leading market players involved in the industry including their corporate overview, financial summary, and SWOT analysis.

Get Sample Copy of this Report @ Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19

Report Overview: Rare Disease Genetic Testing Market

The global rare disease genetic testing market size was valued at USD 690.1 million in 2020 and is projected to register a Compound Annual Growth Rate (CAGR) of 8.8% from 2021 to 2027. Misdiagnosis can result in interventions that could later be considered inappropriate for the underlying disorder. Thus, the need for an accurate and timely diagnosis for rare conditions drives the demand for genetic testing. Currently, the lack of awareness pertaining to these conditions is one of the primary challenges for the market. Thus, several efforts are being undertaken to help raise awareness about various aspects of rare and ultra-rare diseases, such as the challenges pertaining to diagnosis and clinical implementation of available diagnostic approaches.

Companies like Shire Plc are engaged in supporting domestic diagnostic testing for rare disorders in certain countries and offer learning programs for healthcare experts on genetic testing. Every country has developed its registry for rare diseases that acts as a focal point of information on these conditions. Patient registries and databases play a integral role in clinical research in the field of rare diseases and help in improving healthcare planning and patient care.

A rise in the number of available registries is one of the major driving factors of the market as it enables pool data to achieve a sufficient sample size for epidemiological and/or clinical research. Furthermore, technological advancements in data collection and interpretation for clinical practice has driven the market. Companies are making efforts to ensure efficient data collection from various ethnicities, which is expected to aid in the diagnosis of thousands of patients with the same condition.

In addition, companies, such as Centogene, combine genetic testing with metabolomics and proteomics to make their data analysis process as accurate as possible. The multi-omics approach helps better understand the impact of a given mutation on the protein as well as at the metabolite level. The company has also introduced a system to simplify the sample collection process, thereby driving the adoption of genetic tests for rare disease diagnosis.

Disease Type Insights: Rare Disease Genetic Testing Market

Neurological disorders segment accounted for the largest share of 12.9% in 2019. A substantial number of commercially-approved genetic tests for neurologic conditions coupled with a high prevalence of neurological diseases has accelerated the revenue growth in this segment. Tests offered by companies are recommended by several medical institutes, such as the American Academy of Neurology, American College of Medical Genetics, and Child Neurology Society.

Furthermore, the advent of high-throughput techniques, such as exome sequencing and whole-genome sequencing, has offered lucrative opportunities for companies offering tests for diseases, such as X-ALD. Exome sequencing and whole-genome sequencing have helped in addressing complicated cases of X-ALD that present an atypical disease course.

Moreover, immunologic disorders, such as Multiple Sclerosis (MS), are among the most prevalent rare diseases. The genetic profile of MS is one of the key focus areas among researchers in this field. This is primarily to obtain relevant insights pertaining to the causes and underlying physiology of diseases, resulting in a significant share of this segment.

End-use Insights: Rare Disease Genetic Testing Market

Research laboratories & CROs captured the maximum share of 46.9% of the market in 2019. This is primarily because in a substantial number of cases, blood samples collected from patients are sent to a laboratory for testing. Laboratories offer testing based on various specialties, including molecular, chromosomal, and biochemical genetic tests. For instance, ARUP Laboratories offers testing in molecular genetics, cytogenetics, genomic microarray, and biochemical genetics.

Laboratories also offer genetic counseling services that further accelerate the uptake of services among patients. Moreover, molecular genetic testing-based laboratory testing is rapidly increasing worldwide. Genetic tests are conducted by multiple laboratories, including those that are accredited with CLIA for clinical cytogenetics, pathology, and chemistry, among other specialties. These companies are involved in expanding their test portfolio by undertaking various strategic initiatives.

For instance, in January 2020, Quest Diagnostics acquired Blueprint Genetics to enhance its expertise in genetic disorders and rare diseases. Furthermore, in June 2018, Centogene launched its diagnostic laboratory in Cambridge, Massachusetts. Such initiatives depict the growing interest of diagnostic centers in genetic testing of rare diseases, which is likely to boost segment growth.

Technology Insights: Rare Disease Genetic Testing Market

Next Generation Sequencing (NGS) accounted for the largest share of 36.6% in 2019 owing to the high usage of Whole Exome Sequencing (WES). WES is being considered a highly potential method in a case where the genetic cause of disease is unknown and is difficult to identify. WES is becoming the standard of care for patients with undiagnosed rare diseases. This is attributed to the fact that exons make up around 1.5% of an individuals genome and contain 85% of all known disease-causing mutations.

Moreover, with the declining costs of WES, the cost of genetic testing is also anticipated to reduce significantly, making the test more affordable and accessible. In addition, medical coverage for WES-based genetic tests has favored segment growth. A substantial number of private health insurance agencies cover all or part of the cost of genetic testing, post recommendation by a healthcare professional. As compared to WES, clinical Whole Genome Sequencing (WGS) has lesser demand.

However, with a continuous decrease in cost, adoption of WGS is expected to amplify. For instance, the Rady Childrens Institute for Genomic Medicine offers singleton-rapid WGS and a trio-rapid WGS at a reasonable cost. In February 2020, Dante Labs launched an initiative to offer WGS to patients with rare diseases for USD 299. The service included WGS 30X on Novaseq6000 technology, data interpretation, and personalized therapy on these diseases.

Specialty Insights: Rare Disease Genetic Testing Market

Accounting for more than 40% revenue share, molecular genetic tests led the market in 2019. Rapid technological advancements and expertise in handling & managing high throughput technologies within clinical settings have driven the revenue in this segment. Molecular genetic test methods enable investigating single genes or short lengths of DNA for the detection of mutations or variations leading to genetic disorders.

Apart from rare diseases, the method also covers testing of ultra-rare diseases, which will augment the segment growth in future. Biochemical genetic tests are expected to register the second-fastest CAGR during the forecast period owing to their efficiency to assess the activity and amount of proteins & related abnormalities for the identification of changes in the DNA that can cause a metabolic disorder.

Also, the companies are expanding their test portfolio to capitalize on the potential opportunities present in this segment. In September 2019, Blueprint Genetics collaborated with ARCHIMEDlife to launch high-quality biochemical tests for rare diseases. Such developments are anticipated to boost the revenue share of the segment in the coming years.

Regional Insights: Rare Disease Genetic Testing Market

North America accounted for the largest market share of over 47% in 2019. Factors, such as high incidence of rare disorders, a large number of rare disorders registries, and the presence of substantial numbers of R&D facilities for rare & ultra-rare diseases, and extensive investments in the diagnosis of rare disorders in the region drives the market growth. As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. Moreover, the number of patients undergoing disease testing is expected to increase in the coming years, thereby supporting market growth.

Asia Pacific is expected to register the fastest CAGR from 2020 to 2027 due to rising awareness and target population in Asian countries. China is attempting to shift the attention of the healthcare system towards the diagnosis and treatment of rare disorders. The government in the country has included rare disease management as a public health priority in its 2030 roadmap titledHealthy China 2030. Furthermore, in June 2018, the country released its first list of rare disorders to enable the patients to find solutions effectively at their local hospitals.

Key Companies & Market Share Insights: Rare Disease Genetic Testing Market

The development of technologies, such as WES & WGS, has significantly transformed genetic testing space by offering convenient and cost-effective methods that can be conducted for a wide range of conditions across multiple clinical settings. As a result, major diagnostic companies are engaged in expanding their product portfolio that can be used to conduct tests for rare and ultra-rare conditions.

In addition, they have undertaken various initiatives, such as mergers & acquisitions, to expand their offerings and subsequently strengthen their presence in this market. For example, the acquisition of GeneDX by OPKO. The acquisition helped the latter company to expand its business in the market. Similarly, Quest strengthened its presence in the market with the acquisition of Blueprint Genetics. Another important acquisition in the market is Qiagens acquisition by Thermo Fisher.

The companies have signed an agreement in March 2020; however, it is targeted to be completed by the first quarter of 2021, as ThermoFisher Scientific is lining up finances for the USD 11.5 billion deal, with an offering worth $2.2 billion. This deal is expected to impact the life science tools and reagents market significantly. With regard to rare disorder genetic testing, Thermo Fisher Scientific is engaged in research and provides sequencing for the Osteogenesis imperfecta and Vascular Ehlers-Danlos syndrome. Some of the prominent players in the rare disease genetic testing market include:

Key companies Profiled: Rare Disease Genetic Testing Market Report

This report forecasts revenue growth at global, regional, and country levels and provides an analysis of the latest industry trends in each of the sub segments from 2016 to 2027. For the purpose of this study, Trusted Business Insights has segmented the global rare disease genetic testing market report on the basis of disease type, technology, specialty, end use, and region:

Disease Type Outlook (Revenue, USD Million, 2016 2027)

Technology Outlook (Revenue, USD Million, 2016 2027)

Specialty Outlook (Revenue, USD Million, 2016 2027)

End-use Outlook (Revenue, USD Million, 2016 2027)

Looking for more? Check out our repository for all available reports on Rare Disease Genetic Testing in related sectors.

Quick Read Table of Contents of this Report @ Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19

Trusted Business InsightsShelly ArnoldMedia & Marketing ExecutiveEmail Me For Any ClarificationsConnect on LinkedInClick to follow Trusted Business Insights LinkedIn for Market Data and Updates.US: +1 646 568 9797UK: +44 330 808 0580

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Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19 - Eurowire

Odell Beckham Jr.s time in Cleveland hasnt lived up to expectations. Regardless, hes been one of the biggest NFL stars for most of his career. Hes put in plenty of work to become a great wide receiver, but his lineage gave him tools to succeed, too. Athletic excellence is a generational touchstone in the Beckham family. Both of his parents played sports at a high level, but they werent OBJs only relatives to do so.

A number of videos show Odell Beckham Jr. displaying his athleticism in sports other than football. Here he is playing soccer with more finesse and confidence than some members of the U.S. Mens national team:

In this clip, Beckham swings for the fences:

He can also throw down dunks worthy of a dunk contest:

Beckham can also kick field goals and throw a football well enough to be a backup quarterback. Having these talents plus his elite receiving ability is just Beckham running up the score. His touchdown pass against the Cowboys in his rookie season thrust him into the spotlight. Beckham backed it up by becoming a consistently brilliant outside threat.

In each of his first three seasons, Beckham made the Pro Bowl.The only two years he hasnt accrued over 1,000 receiving yards ended with an injury after four games. And he did it without an elite quarterback at any point. It likely explains why some critics look for any chance to discredit him or place the failures of a team on his shoulders. Its easy to be jealous of a man who is rich, gifted, and handsome.

RELATED: Odell Beckham Jr. Came Extremely Close to Calling It Quits

While the rest of us were gawking at Beckhams incredible dexterity for that catch against the Cowboys, his father didnt think it was a big deal. In most other cases, this would be an example of parents having unfair standards for their kid, the history of the Beckham family makes it more understandable that they would be nonplussed by plays like that. Such feats are not rare in their family.

Odell Beckham Sr. also played college football at LSU, starting at running back for nine of the 28 games he played for the Tigers from 1989 to 1992. His mother, Heather Van Norman, went a step further at the school and became one of the best track and field stars in school history, according to Fanbuzz.

She arrived onto campus in 1989 and was an All-American in all six years of her college career. In addition to that, she won three straight NCAA outdoor titles from 1991 to 1993, two indoor national titles (1991 and 1993) and won both indoor and outdoor SEC titles in 1993 and 1995.

RELATED: Odell Beckham Jr. and Kevin Durant Invested Heavily in the Future of Esports

Van Norman was such a physical specimen that even creating a life couldnt get her off the track. In 1992, she realized she was pregnant with Odell while she was preparing for the Olympic trials. She continued to run every day until she gave birth.

The athletic lineage goes even further, according to the New York Daily News. Odells grandmother, Margaret Sauls Jones, said played basketball, volleyball, ran track, and threw the discus at Dunbar-Meredith High in Temple, Texas.

Even his stepfather, Derek Mills, was a Gold medalist in the 1996 Olympic Games. Mills also ran as part of the United States 4X400 Relay and also appeared in the 1995 World Championship where he was ranked as high as No. 2 in the world the 400 meters. Odell was destined to be a top-level player in whatever sport he chose.

Beckhams career has hit a crossroads in Cleveland. Hes struggled to put up big numbers on a regular basis, but its hard to know how much of his underperformance is down to him, the general mediocrity of Baker Mayfield, and the borderline incompetence of the Browns front office. Beckhams dealt with injuries before, but nothing as serious as the torn ACL he suffered against the Cincinnati Bengals.

Its tough to foresee what his future in the NFL will be. Rumors about him leaving Cleveland have circled him ever since he put on the uniform, and if Mayfield continues to inexplicably play well without his most talented wideout, then there will be louder calls to get rid of him.

Theres also no way to know what kind of player Beckham will be until he gets back on the field. Considering the gap between him and most other athletes, he has much more room for ever than the majority of his peers.

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Odell Beckham Jr. Won the Genetic Lottery With His Athletic Parents - Sportscasting

A study of some of the sickest COVID-19 patients, such as those placed on ventilators, has identified gene variants that put people at greater risk of severe disease.

By Jocelyn KaiserOct. 13, 2020 , 1:25 PM

Sciences COVID-19 reporting is supported by the Pulitzer Center and the Heising-Simons Foundation.

Its one of the pandemics puzzles: Most people infected by SARS-CoV-2 never feel sick, whereas others develop serious symptoms or even end up in an intensive care unit clinging to life. Age and preexisting conditions, such as obesity, account for much of the disparity. But geneticists have raced to see whether a persons DNA also explains why some get hit hard by the coronavirus, and they have uncovered tantalizing leads.

Now, a U.K. group studying more than 2200 COVID-19 patients has pinned down common gene variants that are linked to the most severe cases of the disease, and that point to existing drugs that could be repurposed to help. Its really exciting. Each one provides a potential target for treatment, says genetic epidemiologist Priya Duggal of Johns Hopkins University.

In a standard approach to finding genes that influence a condition, geneticists scan the DNA of large numbers of people for millions of marker sequences, looking for associations between specific markers and cases of the disease. In June, one such genomewide association study in The New England Journal of Medicine (NEJM) found two hits linked to respiratory failure in 1600 Italian and Spanish COVID-19 patients: a marker within the ABO gene, which determines a persons blood type, and a stretch of chromosome 3 that holds a half-dozen genes. Those two links have also emerged in other groups data, including some from the DNA testing company 23andMe.

The new study confirmed the chromosome 3 regions involvement. And because 74% of its patients were so sick that they needed invasive ventilation, it had the statistical strength to reveal other markers, elsewhere in the genome, linked to severe COVID-19. One find is a gene called IFNAR2 that codes for a cell receptor for interferon, a powerful molecular messenger that rallies the immune defenses when a virus invades a cell. A variant of IFNAR2 found in one in four Europeans raised the risk of severe COVID-19 by 30%. Baillie says the IFNAR2 hit is entirely complementary to a finding reported in Science last month: very rare mutations that disable IFNAR2 and seven other interferon genes may explain about 4% of severeCOVID-19 cases. Both studies raise hopes for ongoing trials of interferons as a COVID-19 treatment.

A more surprising hit from the U.K. study points to OAS genes, which code for proteins that activate an enzyme that breaks down viral RNA. A change in one of those genes might impair this activation, allowing the virus to flourish. The U.K. data suggest there is a variant as common and influential on COVID-19 as the interferon genetic risk factor.

Other genes identified by Baillies team could ramp up the inflammatory responses to lung damage triggered by SARS-CoV-2, reactions that can be lethal to some patients. One, DPP9, codes for an enzyme known to be involved in lung disease; another, TYK2, encodes a signaling protein involved in inflammation. Drugs that target those two genes proteins are already in useinhibitors of DPP9s enzyme for diabetes and baricitinib, which blocks TYK2s product, for arthritis. Baricitinib is in early clinical testing for COVID-19, and the new data could push it up the priority list, Baillie says.

The chromosome 3 region still stands out as the most powerful genetic actor: A single copy of the disease-associated variant more than doubles an infected persons odds of developing severe COVID-19. Evolutionary biologists reported last month in Nature that this suspicious region actually came from Neanderthals, through interbreeding with our species tens of thousands of years ago. It is now found in about 16% of Europeans and 50% of South Asians.

But the specific chromosome 3 gene or genes at play remain elusive. By analyzing gene activity data from normal lung tissue of people with and without the variant, the U.K. team homed in on CCR2, a gene that encodes a receptor for cytokine proteins that play a role in inflammation. But other data discussed at last weeks meeting point to SLC6Z20, which codes for a protein that interacts with the main cell receptor used by SARS-CoV-2 to enter cells. I dont think anyone at this point has a clear understanding of what are the underlying genes for the chromosome 3 link, says Andrea Ganna of the University of Helsinki, who co-leads the COVID-19 Host Genetics Initiative.

The U.K. genetics study did not confirm that the ABO variants affect the odds of severe disease. Some studies looking directly at blood type, not genetic markers, have reported that type O blood protects against COVID-19, whereas A blood makes a person more vulnerable. It may be that blood type influences whether a person gets infected, but not how sick they get, says Stanford University geneticist Manuel Rivas. In any case, O blood offers at best modest protection. There are a lot of people with O blood that have died of the disease. It doesnt really help you, says geneticist Andre Franke of the Christian-Albrecht University of Kiel, a coleader of the NEJM study.

Researchers expect to pin down more COVID-19 risk genesalready, after folding in the U.K. data plumbed by Baillies team, the COVID-19 Host Genetics Initiative has found another hit, a gene called FOXP4 implicated in lung cancer. And in a new medRxiv preprint posted last week, the company Ancestry.com reports that a gene previously connected to the effects of the flu may also boost COVID-19 susceptibility only in men, who are more likely to die of the disease than women.

Geneticists have had little luck so far identifying gene variants that explain why COVID-19 has hit Black people in the United States and United Kingdom particularly hard. The chromosome 3 variant is absent in most people of African ancestry. Researchers suspect that socioeconomic factors and preexisting conditions may better explain the increased risks. But several projects, including Baillies, are recruiting more people of non-European backgrounds to bolster their power to find COVID-19 gene links. And in an abstract for an online talk later this month at the American Society of Human Genetics annual meeting, the company Regeneron reports it has found a genome region that may raise the risk of severe disease mainly in people of African ancestry.

Even as more genetic risk factors are identified, their overall effect on infected people will be modest compared with other COVID-19 factors, Duggal says. But studies like the U.K. teams could help reveal the underlying biology of the disease and inspire better treatments. I dont think genetics will lead us out of this. I think genetics may give us new opportunities, Duggal says.

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Found: genes that sway the course of the coronavirus - Science Magazine

Background

Observational studies have identified height as a strong risk factor for atrial fibrillation, but this finding may be limited by residual confounding. We aimed to examine genetic variation in height within the Mendelian randomization (MR) framework to determine whether height has a causal effect on risk of atrial fibrillation.

In summary-level analyses, MR was performed using summary statistics from genome-wide association studies of height (GIANT/UK Biobank; 693,529 individuals) and atrial fibrillation (AFGen; 65,446 cases and 522,744 controls), finding that each 1-SD increase in genetically predicted height increased the odds of atrial fibrillation (odds ratio [OR] 1.34; 95% CI 1.29 to 1.40; p = 5 10-42). This result remained consistent in sensitivity analyses with MR methods that make different assumptions about the presence of pleiotropy, and when accounting for the effects of traditional cardiovascular risk factors on atrial fibrillation. Individual-level phenome-wide association studies of height and a height genetic risk score were performed among 6,567 European-ancestry participants of the Penn Medicine Biobank (median age at enrollment 63 years, interquartile range 55-72; 38% female; recruitment 2008-2015), confirming prior observational associations between height and atrial fibrillation. Individual-level MR confirmed that each 1-SD increase in height increased the odds of atrial fibrillation, including adjustment for clinical and echocardiographic confounders (OR 1.89; 95% CI 1.50 to 2.40; p = 0.007). The main limitations of this study include potential bias from pleiotropic effects of genetic variants, and lack of generalizability of individual-level findings to non-European populations.

In this study, we observed evidence that height is likely a positive causal risk factor for atrial fibrillation. Further study is needed to determine whether risk prediction tools including height or anthropometric risk factors can be used to improve screening and primary prevention of atrial fibrillation, and whether biological pathways involved in height may offer new targets for treatment of atrial fibrillation.

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Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study - DocWire News

This article about the polygenic score was produced in partnership with The Hechinger Report, a nonprofit, independent news organization focused on inequality and innovation in education. This is part 3 of the series Gifted Educations Race Problem.

Many factors boost a child's chance of success in school like having wealthy parents who can afford tutors. But recent research has raised another possibility one that is discomforting to many the idea that scientists might someday be able to spot the genetic markers associated with academic performance.

To do this, researchers are turning to a relatively new genetic approach called the polygenic score, which assesses a persons likelihood for a specific future based on a combination of genetic variables. Its a research technique that some scientists are using to assess obesity or cancer risk, for instance. Now, researchers are exploring this approach in non-medical contexts, like academic or athletic success.

The scientists studying genetic markers in education are trying to untangle how nature and nurture together explain school performance. In principle, genetic screening might enable teachers to tailor their approach to groups of students. Educators might then more effectively instruct kids together in one classroom, rather than separating students into accelerated and low-level courses, which can deprive Black and brown children and children from low-income families of academic opportunities.

But some researchers fear this gene screening work could be misapplied and used to further racist or eugenic thinking, even though race is a social, not a genetic, classification. Theres an ugly history of proponents of eugenics, who believe in reshaping humanity by breeding superior traits and removing inferior traits, justifying their thinking with genetics. And there are debunked racist theories that have endeavored to falsely connect race and intelligence.

For now, the science is almost entirely based on data collected from people with European ancestry, which limits the conclusions that can be drawn from it, so researchers feel that theyve at least temporarily sidestepped the issue.

But that doesnt mean they arent worried about it and about the other ways this research could exacerbate inequities in education. Screening is expensive, for instance, increasing the odds that privileged students will qualify for extra enrichment or support before their less privileged peers.

Indeed, the idea of predicting students academic performance based on their genes comes with such a raft of ethical questions and unknowns that scientists in the field are urging caution. Polygenic scores are a potentially useful new scientific tool. At the same time, there are clear reasons to be concerned, Stanford University social scientist Ben Domingue said. Were going to have the capacity, with a vial of spit, to be able to predict all these different things.

Scientists and ethicists are also concerned about commercializing this work while the research is still evolving. Already, several companies sell reports to consumers that incorporate polygenic scores for health or various physical characteristics despite the fact that the scores are not perfect forecasters of a persons future.

Researchers in the field want to see more critical discussion of how their work could be applied in educational settings. If we dont pay attention now, systems will be created, constructed around us, responding to our genetic difference, said Sophie von Stumm, a psychologist at the University of York, in the United Kingdom, who studies genetics and education. Its high time to have this discussion. Honestly, were late to the party.

Related: College graduation may be partly determined by your genes, genome study of siblings finds

The polygenic score that could help predict academic performance aims to assess genetic markers related to educational attainment. In other words, it combines hundreds of common genetic variants that are linked to the number of years a person stays in school. In 2016, this score could explain about 5 percent of the variation in the level of education completed.

In 2018, researchers studied data from more than a million people across countries and found they could strengthen the polygenic score to explain 11 percent of the variation in educational attainment. That value puts the score on par with factors like a mothers level of education attainment, which explains 15 percent of variation, and household income, which explains about 7 percent.

There are genes that affect educational attainment that is for certain now, said Aysu Okbay, an economist at Vrije Universiteit in the Netherlands who contributed to the 2016 and 2018 studies.

The scores ability to explain variation in years of schooling could improve with more data. Rough estimates indicate about 80 percent of the variation in educational attainment comes from environmental factors the rest is genetic. With enough data, some scientists believe, the polygenic score could get close to explaining 20 percent of the difference in peoples level of education.

If so, the score would be an incredibly powerful single factor for making predictions about an individuals academic future even though the combined environmental variables still eclipse the role of genes. Its really not a puny predictor at this point, Domingue said.

In February, Domingue and his colleagues found that the polygenic score could help identify which groups of high schoolers had been placed into advanced math classes. The score could also point to students most likely to stick with advanced math courses across all four years of high school.

But polygenic scores also come laced with caveats. So many, in fact, that Okbay and her colleagues published a massive list of public FAQs including how the study was designed and whether the research could lead to stigmatization of people with certain genes to help readers interpret their research.

For more of NBC News' in-depth reporting, download the NBC News app

Paige Harden, a clinical psychologist at the University of Texas at Austin and a co-author on the math study likens the polygenic score to a credit score. Neither the polygenic nor the credit score can really forecast what will happen to a particular person. Instead, they provide a rough sense of how people with that score will, on average, fare. The score is better at gauging a groups overall performance than an individuals performance.

Harden and others acknowledge that its still a mystery how the genetic variants behind the score contribute to how far a person gets in school. We dont know what the mechanisms are, Okbay said. We dont know whether its causal or not.

Some research suggests the genes associated with education are related to the nervous system and the brain, raising the possibility that theyre connected to cognitive functions things like strong memory, creativity and perseverance that serve people well in school.

But the relationship could be nuanced. Domingue pointed out that there could be genetic factors that make a person more likely to be a supportive parent, which, in turn, would correlate to better school performance in their children. Because the child and parent share DNA, the polygenic score could capture gene variants in the child that explain educational performance but actually reflect the parents behavior.

There is also an enormous shortcoming in the datasets used for this research: Virtually all are built with DNA from people of European ancestry. Although there are biobanks in the works in Asia and Africa that could address this omission, for the time being, the scores are essentially only applicable to people of European descent. Youre basically developing a tool thats only useful for one segment of the population, Harden said.

Related: Gifted classes may not help talented students move ahead faster

Given all of these limitations, most scientists believe it would be unlikely, and inappropriate, for educators to use polygenic scores to determine student placement in specific classes or schools. Will someone be mad enough to track or stream on the basis of genetic predispositions? von Stumm said. Fortunately, I think were far from that.

There could be other ways of using this genetic information. Once genetic variants are better understood and enough data is in hand, for example, it might be possible to identify children with a predisposition to learning disabilities and intervene early. In May, von Stumm and her colleagues published a paper exploring whether a toddlers polygenic score for educational attainment could identify children at risk for language or literacy delays later in life. The conclusion: Were not there yet.

Critics caution that there is too much to establish ethically and scientifically before we confront those scenarios. Someday well understand the genetic contribution to educational success or to life success but it will be our grandchildren who understand it. It wont be us, bioethicist Arthur Caplan at NYU Langone Health said.

And even if we understood this information, its not clear how to best use the scores in schools. Last year, Stanfords Domingue and two colleagues wrote about a hypothetical case study: What happens when a parent tries to use genetic data, like a polygenic score, to make the case that their child deserves additional classroom support?

I dont know that I have good answers to that, he said. But the scenario hints at another serious concern: inequality. Not everyone will be able to afford genetic screening, even when there are meaningful scores for people across ancestries.

Still, researchers are already using the polygenic score to explore long-standing conundrums like why children with very similar advantages follow different trajectories in life.

We are all subject to a big genetic lottery that corresponds to an environmental lottery, von Stumm said. She added that research into the links between genetics and academic attainment could push people to examine fairness in meritocratic societies, given that some people may carry genetic strengths that give them a slight but significant academic advantage, that, in turn, improves other aspects of their lives.

Measuring a persons genetic advantage (or disadvantage) also allows scientists to control for it in their studies. That is, they can better study factors that society can change, such as spending on special programs, compulsory education and school interventions, without having their results biased by a sample of students who are genetically advantaged or disadvantaged.

And researchers can use the polygenic score to assess whether a school has failed students with high potential or if an intervention helped retain children who were otherwise likely to drop out. In the math paper published in February, Domingue, Harden, and their colleagues found that some schools better supported high school students with low polygenic scores than others, ensuring those kids stayed in school.

Harden hopes to see the science applied in ways that emphasize social justice and provide resources to programs that need them: Thats how I think we should be using the polygenic scores if we use them at all.

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A new way of predicting which kids will succeed in school: Look at their genes - NBC News

Genome-wide association study identifies ABO blood protein

The identification of a gene cluster associated with progression to severe disease in patients with Covid-19 strengthens findings from earlier studies suggesting a prominent role for ABO blood group locus in disease severity.

In the genome-wide association study (GWAS) involving patients hospitalized with Covid-19 in Italy and Spain during the local peak of the pandemic, patients with blood group A had an increased risk for progression to severe disease, while patients with blood group O had a lesser risk for progression.

The strongest signal for severe disease, however, was the rs11385942 insertion-deletion GA or G variant at locus 3p21.31, according to researchers from the Severe Covid-19 GWAS Group.

Blood-group specific analysis showed a higher risk for severe disease among patients with blood group A and a lower risk with blood group O.

The groups findings, published Oct. 14 in the New England Journal of Medicine, were originally reported online in June.

In a newly published commentary, researcher Arthur Kaser, MD, of the University of Cambridge Institute of Therapeutic Immunology and Infectious Disease wrote that the genome-wide association study represents a major leap toward disentangling the molecular mechanisms that cause severe Covid-19.

Kaser was not involved with the study.

This genome association study will set directions for research, he wrote, adding that a focus on the immunologic synapse between T cells and antigen-presenting cells appears to be warranted in the search for therapies to address the hyperinflammatory state known as cytokine storm that occurs in some patients with severe Covid-19.

Researchers from the Severe Covid-19 GWAS Group pragmatically compared data from patients hospitalized with severe Covid-19 (defined as respiratory failure), with data from contemporarily recruited blood donors with mostly unknown SARS-CoV-2 status and from historically healthy controls from the same region.

Associations were identified between the risk of developing severe Covid-19 and a multigene locus at 3p21.31 and the ABO blood group locus at 9q34.2.

No association signal was shown for the human leukocyte antigen (HLA) region, which is a regulator of infection immunity and has been suggested as a potential driver of Covid-19 severity.

At locus 3p21.31, the association signal spanned 6 genes: SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 and XCR1.

The association signal at locus 9q34.2 coincided with the ABO blood group locus; in this cohort, a blood-groupspecific analysis showed a higher risk in blood group A than in other blood groups (odds ratio, 1.45; 95% CI, 1.20-1.75; P=1.48104) and a protective effect in blood group O as compared with other blood groups (odds ratio, 0.65; 95% CI, 0.53-0.79; P=1.06105), wrote Tom H. Karlsen of the University of Oslo, and colleagues from the Severe Covid-19 GWAS Group.

In his editorial, Kaser noted that among the 6 candidate genes at 3p21.31, LZTFL1 might be the most compelling, with the rs11385942 variant and all other fine-mapped association signals that exceeded genome-wide significance located within it.

LZTFL1 is widely expressed and encodes a protein involved in protein trafficking to primary cilia, which are microtubule-based subcellular organelles acting as antennas for extracellular signals, he wrote. In T lymphocytes, LZTFL1 participates in the immunologic synapse with antigen-presenting cells, such as dendritic cells (these cells prime T-lymphocyte responses).

Kaser noted that of the other 5 candidate genes, 4 (CCR9, FYCO1, CXCR6 and XCR1) have roles in T-cell and dendritic-cell function, while SLC6A20 is a transporter with intestinal expression regulated by the SARS-CoV-2 receptor angiotensin-converting enzyme 2 (ACE2).

Earlier research has shown the Covid-19 hyperinflammatory response to resemble secondary hemophagocytic lymphohistiocytosis (HLH), which is a rare and often fatal hyperinflammatory response triggered by autoimmune disorders, certain cancers, and infections.

Kaser wrote that while secondary HLH remains poorly understood, Mendelian-inherited primary HLH points toward CD8+ T lymphocytes, natural killer cells and dendritic cells triggering a cytokine storm involving macrophages.

Other shared features between secondary HLH and severe Covid-19 are cytopenia, hyperferritinemia, disseminated intravascular coagulation, acute respiratory distress syndrome, multiple organ dysfunction, excessive expansion of T lymphocytes, and bone marrow histiocytic hyperplasia with hemophagocytosis with aggregates of interstitial CD8+ lymphocytes, he noted.

The Severe Covid-19 GWAS Group concluded that further exploration of the (study) findings both as to their usefulness in clinical risk profiling of patients with Covid-19 and toward a mechanistic understanding of the underlying pathophysiology, is warranted.

In his commentary, Kaser concluded that the clinical success of treating Covid-19 patients on mechanical ventilation with the corticosteroid dexamethasone provides strong evidence that death may be caused by a late hyperinflammatory phase.

A therapeutic agent that converts severe Covid-19 into a manageable, nonfatal infection would render this pandemic a lesser concern, he wrote.

Because it is impossible to predict mechanisms straight from genomic coordinates, experimental testing of the biology of implicated genetic risk pathways is a route, albeit a potentially challenging one, toward that goal.

Salynn Boyles, Contributing Writer, BreakingMED

Karlsen reported grants from Stein Erik Hagen (via Canica A/S) during the conduct of the study; personal fees from Gilead Sciences, personal fees from Novartis, personal fees from Engitix, and personal fees from Intercept outside the submitted work.

Kaser had no disclosures.

Cat ID: 497

Topic ID: 495,497,282,497,125,190,926,192,927,151,59,928,925,934

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Genetic Variants Linked to Severe Covid-19 - Physician's Weekly

African cattle breeds are astonishingly diverse, and often quite beautiful. They range from the dark-red Ankole of southern Uganda, with their massive heat-dissipating horns, to the Boran which thrive in the dusty plains of northern Kenya, to Ethiopias sturdy Mursi cattle, with their prominent shoulder humps and hanging dewlaps. The Kuri that graze on the grasses of Lake Chad are adept swimmers; the Red Fulani can trudge vast distances along the margins of the Sahara; and the famously disease-resistant Sheko inhabit tsetse fly-infested forests of southwest Ethiopia.

All billion or so cattle today descend from ancient aurochs, an extinct species of wild cattle that once inhabited large swaths of Eurasia. These cattle were domesticated on at least two distinct occasions approximately 10,000 years ago during the Neolithic era: once in south Asia leading to the zebu or humped cattle and the other in the Middle East leading to the taurine or humpless cattle.

In Africa, the oldest archaeological evidence of domestic cattle dates back to between 6000 and 5000 BC in western Egypt. These taurine cattle, initially confined to the Saharan-Sahelian belt, eventually reached isolated pockets of land in West and East Africa.

Africas cattle today have adapted to the climate, forage conditions, diseases and pests prevalent in their habitat. The individuals best adapted to their environments were more likely to survive and reproduce. They were also more favoured by people. Over time this led to different breeds and species.

Today there are an estimated 800 million livestock keepers across the continent. Cattle provide nutritious, calorie-dense food, much-needed income, and nitrogen-rich manure for replenishing soils. There are few regions of Africa where cattle do not play a central role, both economically and culturally.

But it was not always this way. My colleagues and I from the International Livestock Research Institute (ILRI) recently published a paper detailing how African cattle acquired their adaptive capacities.

Sifting through the DNA of 16 indigenous African breeds, we discovered a thousand-year-old event in which the worlds two main subspecies of cattle namely taurine and zebus mixed. This allowed African cattle after spending thousands of years confined to certain regions in Africa to diversify and spread across the continent.

Our findings help to explain how African cattle spread throughout the continent. But since they were selected and bred for resilience, African cattle never became as productive, in terms of meat or milk, as breeds in more temperate climates. Our hope is that, by studying the history hidden in indigenous cattle genomes, we can help guide efforts to breed for productivity without losing the breeds native resilience and sustainability.

Our new genome sequencing work revealed that, about a thousand years ago, pastoralist herders in the Horn of Africa began breeding the Asian zebu cattle with local taurine breeds.

The zebu offered traits that allowed cattle to survive in hot, dry climates. The taurine traits provided cattle with the ability to endure humid climates, where vector-borne diseases that affect cattle, like trypanosomiasis (or sleeping sickness) are common.

This event, which we dubbed an evolutionary jolt, allowed African cattle after spending thousands of years confined to a shifting patchwork of sub-regions in Africa to spread across the continent and flourish into the breeds we see today.

But this resilience came at a cost. African cattle are often not as productive in terms of growth rates, meat or milk as their European and American cousins. Canadian Holsteins, for example, can deliver 30 litres of milk per day, several times what most African breeds are capable of. Traditional Ethiopian Boran, for example, produced only four to six litres of milk per day.

Today scientists at ILRI, in partnership with governmental institutions in Tanzania and Ethiopia, are again trying to deliver an evolutionary jolt to Africas cattle. This time, however, they want to speed up the evolutionary clock by identifying genetic markers that signal both adaptability and productivity. Screening embryos for these markers could help scientists replicate in the lab the slow work of evolution by favouring the traits that most benefit farmers.

Earlier efforts to improve cattle productivity on the continent focused on importing cattle breeds from elsewhere, without adequately recognising African breeds unique resilience. Nearly, all these attempts have failed or resulted in crossbreeds with both adaptability and productivity diluted.

This time, we are focusing on sustainable productivityproductivity that builds on rather than disregards the resilience of indigenous African breeds.

But while we have new tools and shortcuts which enables scientists to analyse vast swaths of genetic data and decide which breeds could work well together, there are some lessons we should still draw from the first evolutionary jolt.

The first is that we shouldnt be overly concerned about crossbreeding. Because of a sense of national pride and wanting to conserve indigenous African cattle breeds, there is at times a tendency on the part of some to treat them as iconic, untouchable manuscripts.

This ignores the long tradition of crossbreeding practised by African livestock farmers and pastoralists they were (and still are) constantly mixing and matching breeds to select the animals best suited to their needs.

Another lesson is that, as scientists experiment and cross-breed, it is vitally important to remember that the local breeds have adaptations not all of them immediately obvious (a tolerance for episodic drought, for example) that have enabled their success. It is important that we do not lose those adaptive traits in the randomness of crossbreeding.

This will take innovative crossbreeding programs that incorporate scientists, government ministries, private partners and farmers to ensure the conservation of genetic information across the long life cycle of cattle generations.

And finally, its essential to include the practical, accumulated experience of pastoralists in these processes.

David Aronson, Senior Communications Advisor with ILRI, contributed to the writing of this article

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An evolutionary jolt helped cattle to spread across Africa. Now genetics must make them more productive - The Conversation Africa

The El Dorado Rotary Club hosted Tammy McKamie, a genetic certified nurse at the Christus St. Michael Health System in Texarkana, on Monday at their regular meeting, where she spoke about the health benefits of genetic testing.

McKamie, who has worked as a medical professional for nearly 40 years, is the only credentialed genetic certified nurse in Texas, and also serves patients from Arkansas. On Monday, she discussed her specialization in genetics and the role ones genes may play in determining whether they develop cancer during their lives.

While 90% of those who develop cancer do so because of environmental and lifestyle factors, such as smoking or being exposed to carcinogenic chemicals, McKamie said some people are at a heightened risk due to genetic factors.

Almost every person is born with 23 pairs of chromosomes, half of which are inherited from their biological mother and the other half of which are inherited from their biological father.

On each one of these chromosomes, there are thousands of genes. If I add up all the genes in this DNA, were going to have about 20,000 genes, and each one of those has a purpose, McKamie said.

Some of those genes purposes are to protect the individual from developing cancer, she said, a medical breakthrough that was discovered in 1994 during research for the Human Genome Project.

God gave us genes to protect us from cancer, McKamie said. We have two of each gene that theyve discovered so far. One gene may protect you from multiple cancers, so if ones defective, you may be at risk for multiple cancers.

Rotarian Art Noyes asked whether genetic predisposition to cancer may have been related to actress Angelina Jolies decision to undergo a double mastectomy (breast removal) several years ago.

Yes, Angelinas mother had ovarian cancer, so she had this genetic testing years ago, McKamie said. She did the genetic testing and she had a genetic mutation in one of these genes. Angelina had never had cancer, but she had the genetic predisposition toward it.

In Jolies case, McKamie said, there was likely a mutation of the BRCA 1 or 2 gene, which can heighten ones susceptibility to several types of cancers, including breast cancer, ovarian cancer, prostate cancer, colorectal cancer and other types.

For those who opt not to undergo preventative surgeries, like Jolies mastectomy, knowing of any genetic defects can still help medical professionals that care for them, since they will be aware of their increased risk level. Those who do have a genetic predisposition to some types of cancer should undergo earlier and more frequent screenings so that any cancer that does develop can be treated sooner, McKamie said.

If you started out with this defect, we would not wait til 40 (years old) to do a mammogram we would start much earlier, she said. Everybody knows that if you detect cancer early, youre more likely to survive it.

McKamie said a defect in the BRCA 1 or 2 gene can heighten a womans risk of developing breast cancer significantly. For someone without a gene defect, the risk at 40 years old is about 0.5%; at 50 years old, about 2%; and at 70 years old, about 7%. For a woman who does carry a hereditary risk, the likelihood that they will develop breast cancer by age 40 increases to 10 to 20%, depending on which BRCA gene the defect is in; by age 50, the risk is 33 to 50%, and by 70 the risk is 58-87%, McKamie said. For men, the risk of breast cancer increases from 1% for the general population to 7% for those with a genetic defect.

People take it for granted that everythings working but if you knew that one of these was defective and you were at a higher risk for cancer, you might be more healthy, more conscious, McKamie said.

At Christus St. Michael, McKamie offers consultations for those who would like to undergo genetic testing to determine whether they might be at a heightened risk for developing cancer. First, she will take a detailed family medical history and explain to her patient how ones genes might increase their risk for cancer. Following that, she will draw one tube of blood from the patient and send it to a laboratory, with a typical turnaround time of two to three weeks, she said.

This testing is now even evolved to the point to where if you have cancer, the physicians will use it to determine the best type of drug to use to treat you, McKamie said. I get a lot of consults from our cancer physicians and oncologists because they need to know what type of drug to use to treat this person.

McKamie noted that Medicare pays 100% for this sort of genetic testing, and most other medical insurance companies follow their lead; additionally, should any out-of-pocket costs emerge once a patients sample reaches the testing lab, a representative from the lab will call the patient to ensure they still want the testing done.

Before a patient comes to Texarkana for a screening, McKamie will screen them over the phone to ensure they will qualify for coverage for the genetic testing, she said. Those who are interested in a consult can contact her at 903-614-2654 or [emailprotected]

[Cancer diagnostics and treatment] just really evolved, and it continues to evolve, McKamie said. This is the way of the future now.

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Nurse advises Rotary of the benefits of genetic testing - El Dorado News-Times

Amazon Prime Day is here, and have you seen these deals? They're bigger and better than ever, and we can't say we mind all that much. For two days only, you can score everything from fitness deals to beauty buys and kitchen gadgets. But, we'd be remiss if we didn't talk about the fact that it's October (seriously, how?) and gift-giving season is almost here. If you've got someone in your life who could use a cool present, consider this 23andMe Health + Ancestry Service ($99, originally $199).

This genetic-testing kit is beloved by millions, and will give you a unique and in depth look into your genetics. You can save $100 if you buy it today, which is major. Whether you want to check some people off your gifting list or are curious for yourself, now's the time to buy this insanely cool kit.

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The 23andMe Genetic Kit Is an Insanely Cool Gift You May Just Want to Give Yourself - It's on Sale For Prime Day! - Yahoo News

Germline genetic testing is essential in order to identify optimal treatments for patients with cancer, as well as detecting inherited mutations via cascade testing that could affect family members, according to John M.Carethers, MD, MACP, who emphasized that improvements to genetic testing technology and testing costs has increased not only the accuracy of, but access to these assays.

The technology in sequencing has moved from the old gels to capillary to ChIP [chromatin immunoprecipitation]-based, and has revolutionized the way we approached it. The depth of [genetic testing] coverage [has evolved], said Carethers. Sequencing technologies totally revolutionized this [process].

He added, There are some unusual situations in which additional technologies have to be used to figure out some of the ones that typical ChIP technologies don't fully explain. That has markedly changed the way we approach [testing] these days.

In an interview withOncLiveduring the 2020 Institutional Perspectives in Cancer (IPC) webinar on Precision Medicine, Carethers, a professor of Internal Medicine and Human Genetics at the University of Michigan, discussed recent developments in multi-gene panel testing.

OncLive: How are predictive and somatic genetic tests being utilized in clinical practice?

Carethers: In terms of germline testing, the benefit is knowing which disease you carry, and that information can also spread to other family members to understand whether they [are at an increased risk of getting a cancer diagnosis]. Sometimes, at least in my experience, [germline testing] does alleviate some anxiety. Some people get more anxious once they know they have a germline mutation, but in general, it does at least explain the reason why they're seeing certain diseases in the family. Thats the general benefit for germline testing.

The benefit of somatic testing is knowing the type of mutations that occur in the tumor; there may be a therapeutic drug or compound that is in current use that could benefit the patient. For instance, I had a patient with unresectable esophageal cancer. She was dying and her esophagus was almost completely obstructed with the tumor. She had a feeding tube put into her stomach and lost a lot of weight; she was literally counting out the days until she died. With some thought, we decided to take a sample of the tumor and do somatic testing.

She had some mutations that werent typically found in esophageal cancer, and we did have drugs [to treat her]. She was actually put on those drugs and the tumor shrunk dramatically to the point that she could eat again, she gained weight, and she lived another 5 years. Normally, she wouldn't have lasted more than a few months. The benefits of somatic testing is understanding the genetic makeup of the tumor in which you might be able to use some compounds that exist to benefit the patient. Thats the real goal of somatic testing.

There is an unusual situation for somatic testing, as well. For instance, in colon cancer, we know about Lynch syndrome, but there is also a Lynch-like syndrome. In Lynch-like syndrome, there is no germline [mutation], but the tumor has 2 somatic mutations of a mismatch repair deficient tumor. They can look like a Lynch syndrome tumor, and maybe even behave a little bit like a Lynch syndrome tumor, but they're really not caused by a germline mutation. Sometimes, somatic genetics can help us understand tumor genesis as well as ways to treat the tumor.

What changes have we seen recently in multigene panel testing? How are test results interpreted and how do they help guide treatment strategies?

There are patients who will walk in with the classic phenotype and then there are patients walking in who don't have the classic phenotype, yet they carry that mutation in the same gene. Multigene testing allows us to account for phenotypic variation.

Someone may walk in with colon cancer, the next person in the family might walk in with endometrial cancer, and the next person in the family may walk in with a skin tumor, but they all line up with the same mutation in Lynch syndrome. However, if you saw the skin tumor first, would you have thought of Lynch [syndrome]? [What about] if you saw the endometrium or the colon cancer? It depends on the specialty and the type of disease presentation they show up with. In many cases, though, the disease could be subtle.

For instance, there was a family I followed, which comprised the grandmother, mother, and daughter. The grandmother, who was well into her late 60s, had a Lynch syndrome mutation and got her colon removed appropriately. The mother was in her 40s with no cancers, but the daughter who was 21, developed colon cancer. It looked like it skipped a generation, yet, they all carry the same mutation. There's phenotypic variation, even with this exact same mutation in the family, because we're all genetically different to some, so there's probably modifiers and other things going on. However, if I can see that in this one family who I know [harbor that specific] mutation [then I know that] if multiple people walk into the clinic and have variations in their family histories and in their personal history of cancer, that we are seeing a wide phenotypic variation.

Now, instead of testing 1 gene at a time, we will test 30 or 50 genes at a time, and you can pick up some of these less penetrant genes that are causing the phenotypic variation. Sometimes there are major penetrant genes in these families.

What other barriers to germline testing need to be addressed?

We're always learning. Every year or so we add a few more genes to our repertoire and then, maybe they get on some of these panels. E3 ubiquitin ligase WWP1 is associated with PTEN hamartomatumorsyndrome, which is not on any panels, but the paper was published in the New England Journal of Medicine. We keep learning as we discover more and more of these genes. The more genes that we find tend to occur in less and less people, based on our current knowledge, but some of these patients present with these rare phenomena.

We're also finding out that some of these mutations arent specifically a change in the DNA sequencethere are methylation, or rearrangement, or even a deletion. You have to use other techniques in addition to sequencing to figure those families out or those families will be left in the lurch.

The downside of doing multigene panel testing is that now, if you push for more whole-exome and whole-genome sequencing, we have a lot more variants. One commercial lab got [results] back to me 2 months ago from a patient we had tested 4 years ago. They said, We finally have enough people [where we could determine that] his variant is not significant. It was good news. We are now more sure of variants because they now have more families in their database at the commercial lab. Sometimes it takes years to figure it out, unless we have functional analysis for all variants. Thats a big challenge right now.

Where do you hope to see the future of genetic testing head?

In a good way, genetic testing will probably [have a lower] cost and there [will be an] ease of doing it [with] whole-exome and whole-genome sequencing. It will even overtake panel testing over time because the machines are better and faster. The key, though, is having a database that you can go back and forth and analyze. Youre going to need the analytics and tools. What happens with the patient? Do I carry this [information] on a flash drive? Is it in a database I have to have access to?

It's not an easy answer and I'm not sure if the health system that a particular patient goes to is going to store all this information3 billion base pairs of informationand go back to it each time. Each place is going to have to have the right analytic tools to go back and [retrieve that information]. There are going to be some challenges with that, even though that's the way the technology is going.

The more challenging pieces [are related to] direct-to-consumer (DTC) testing. You don't always know what you're getting on those tests. We can test you for common diseases, such as diabetes and hypertension, but we also test you for BRCA1/2. In reality, very few of the DTC [tests] are doing sequencing or panel testing like we do clinically. Many of them are using single nucleotide polymorphisms (SNPs) that give you a suggestion. Many of these start from ancestry companies,and they recently moved into [testing for] these diseases because people are interested. I don't blame them for doing this, but the information they give might only [include] a fraction of the actual disease variants. If someone finds an SNP in BRCA1/2 or Lynch syndrome, you might need to see a doctor. [Based on your family history or phenotype,] we may have to send a ChIP test to verify [the results].

In some cases, people will test just to be curious, and they think they're going to have something, but there is zero evidenceno personal history and no family history. There are going to be some challenges with the DTC [testing] because we don't always know the type of test theyre getting and the information is not going to be as precise and could present challenges in the clinics. Some people are going to get upset because we're going to say, No, you don't need testing, or [patients will ask], Why does this test say I might have it but your test says I don't? We have to explain all this and those are going to be challenges.

What else would you like to add regarding the evolution of genetic testing?

There is phenotypic variability in the presentation of many of these syndromes. The standard now is multigenetic panel testing to try to assuage the phenotypic variation; we do pick up [genes in] people who we didn't necessarily think had that disease. I've been surprised too many times, so I'm not surprised anymore. A lot of these inherited conditions have phenotypic variability. If you have any suspicion or your primary care physician has any suspicion, feel free to send [a test] to our clinic because we can investigate that and do testing that's relatively cheap if there's a good cause to investigate that. It may save their life and the lives of their loved ones.

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Focusing on the Future of Genetic Testing in Oncology - OncLive

The study has been launched in response to a recent escape of farm-raised salmon and will be managed by the wild-fish conservation body Fisheries Management Scotland, supported by scientists from Marine Scotland Science, and funded by Mowi Scotland.

The multi-year study of 115 sites aims to confirm wild salmons current genetic profile and to track for the potential of genetic changes should interbreeding of farmed and wild salmon occur.

In late August, Mowi Scotland confirmed that 48,834 farm-raised salmon escaped from its Carradale farm in the Firth of Clyde after it became detached from its seabed anchors during a combination of strong weather events.

Since the escape, Fisheries Management Scotland has been working with member District Salmon Fishery Boards and Fisheries Trusts, as well as angling associations, to monitor the situation and mitigate where possible. Escaped farmed salmon have been caught by anglers in multiple rivers across Loch Lomond, Ayrshire, Clyde, Argyll and in rivers in north-west England.

The priority for Fisheries Management Scotland and their members has been to ensure that any farmed fish are removed from the rivers, humanely dispatched, and scale samples submitted to enable accurate identification, and Mowi has committed to support these actions.

Dr Alan Wells, chief executive of Fisheries Management Scotland, said: We are very disappointed that this escape has occurred. The Carradale North farm is a new development, and we are all agreed it is not acceptable for such escapes to occur. It is crucial that lessons are learned, and that appropriate steps are taken to avoid such escapes happening in future.

We have welcomed Mowis commitment to work with us and to fund a comprehensive genetics study that will help us better understand the potential impacts. We will continue to engage with the industry and regulators, with a view to improving the situation for wild salmon and sea trout.

Ben Hadfield, COO of Mowi Scotland, said: I would like to thank Fisheries Management Scotland and their member District Salmon Fishery Boards and Fisheries Trusts for their efforts to remove these fish from rivers across the Firth of Clyde, and apologise for any disruption and concern this escape has caused all those with an interest in wild salmon. We have learned the root cause of the escape system anchor lines crossing and resulting in friction failure and acknowledge our responsibility to quickly learn from this event to prevent it from occurring again.

Polly Burns, aquaculture interactions manager at Fisheries Management Scotland, added: We would like to thank anglers for their continuing efforts to capture and report farmed fish entering our rivers. We have received about 150 reports of farmed fish captures from a range of rivers both within and out with the Firth of Clyde and we continue to urge anglers to report catches of farmed fish, using the reporting system on our website.

The Health and Welfare of Atlantic Salmon course

It is vital that fish farm operatives who are responsible for farmed fish are trained in their health andwelfare. This will help to ensure that fish are free from disease and suffering whilst at the same timepromote good productivity and comply with legislation.

This new and comprehensive study of genetic introgression aims to add to the understanding of one of the potential pressures on Scotlands wild salmon, which are approaching crisis-point. The Scottish Government has identified a range of high-level pressures on wild salmon to also include: over-exploitation, predation, invasive species, habitat loss and inshore commercial fisheries.

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Study will investigate the genetic impact of escaped farmed salmon - The Fish Site

Obesity and metabolic syndrome

Adiposity obesity, particularly when it begins in childhood and late adolescence, was identified as leading to a 2-fold risk of developing MS in one study, according to Ruth Ann Marrie, MD, PhD, FRCPC, director of the Multiple Sclerosis Clinic at the University of Manitoba. Central obesity, or visceral adipose fatty deposits in the abdominal area, is a key component of metabolic syndrome, a cluster of abnormalities that includes hypertension, dyslipidemia, and insulin resistance and is linked to a higher risk of cardiac disease and diabetes.

In the Nurses Health Study, which examined risk factors for chronic disease, women with a body mass index (BMI) of 30 or more had a 2-fold increased risk of subsequently developing MS. And a study using data from the Copenhagen School Health Records Register found that children aged 7 to 13 years with a BMI equivalent to 30 in adults had an increased risk of developing MS later in life.

Obesity is more common even before MS diagnosis, Marrie said. In an effort to look at other aspects of metabolic syndrome, researchers used Canadian claims data of about 20,000 individuals with newly diagnosed MS and found that by the time of diagnosis, more than 15% had hypertension and nearly 10% had dyslipidemia.

There is also evidence that obesity and components of metabolic syndrome are associated with longer diagnostic delays, greater disability at diagnosis, as well as an increased relapse rate and accelerated disability progression. One key question she said, is whether treating metabolic syndrome might improve MS outcomes and multiple sclerosis.

In one small, nonrandomized cohort study of 50 individuals with MS, obesity, and metabolic syndrome, they were treated either with metformin or pioglitazone, or they declined treatment.

Before treatment, researchers measured the number of newer enlarging T2 lesions in the 24-month period before intervention as well as gadolinium-enhancing lesions; all 3 groups looked similar.

After treatment with either metformin or pioglitazone, the number of newer T2 lesions as well as gadolinium-enhancing lesions dropped over 24 months. Patients who declined treatment did not see a decrease.

I think the growing body of evidence suggests that clinical trials are needed to really test whether treating obesity and metabolic syndrome may improve outcomes in MS and to test whether we need to be using different strategies for managing disease-modifying therapy, including dosing in individuals who are obese or extremely obese with multiple sclerosis, Marrie said.

Smoking and genetics

Another presentation focused on the interactions between modifiable risk factorsnamely smokingand genetics.

People with a genetic susceptibility to the disease may be at a substantially increased risk of developing MS if youre exposed to certain environmental factors, said Anna Hedstrm, MD, PhD, from the Karolinska Institute Stockholm, Sweden in the Department of Clinical Neuroscience.

Smoking and the chemicals from tobacco creates a cascade of problems, including systemic inflammation, local inflammation in the lungs, oxidative stress, damaged neural tissue, and epigenetic changes.

Smoking increases the risk of MS by about 50%, she said, with men more affected than women; in addition, there is also a dose response relationship between the accumulated dose of smoking and the risk of developing the disease.

In 2005, the Karolinska Institute began a study called the Epidemiological Investigation of Multiple Sclerosis, which uses the countrys national MS registry. As an ongoing study, it now includes 9000 cases and 12,000 matched controls.

In 2011, Hedstrm and colleagues published a study that found a significant interaction between 2 genetic risk factors and smoking: HL ADRB1*15, the key genetic risk factor for MS, and HLA A*02, the absence of which carries a reduced risk of MS. The research looked at the interaction of these genes in both smokers and non-smokes.

Smokers with both genes had an odds ratio (OR) of 13.5 (8.1-22.6) for MS, compared with nonsmokers with the same makeup.

Compared with non-smokers with neither of the genetic risk factors, the OR for smokers without genetic risk was 1.4 (0.9-2.1); the OR for non-smokers with both genetic risk factors was 4.9 (3.6-6.6).

Among those with both genetic risk factors, smoking increased the risk by a factor of 2.8 in comparison with a factor of 1.4 among those without the genetic risk factors.

Passive smoking (ie, never smokers exposed to second-hand smoke) also increases MS risk (OR 1.3-1.6) and the risk increases along with the length of exposure, she said.

Similarly, exposure to organic solvents, she said, also raises the rise of MS in people with the same genetic profile.

MS and Epstein-Barr virus (EBV) infection

No virus has been discovered as a cause of MS, but the hypothesis that a virus may be involved in MS has been around for some time, said Kassandra Munger, ScD, of the Department of Nutrition in the Harvard TH Chan School of Public Health. Current knowledge, she said, points to Epstein-Barr.

From environmental risk factor perspective, MS is likely a rare complication of Epstein-Barr virus infection, with risk further modified by inadequate vitamin D levels, being overweight or obese in early life and cigarette smoking, she said.

Early studies attempting to look at the issue through antibody testing could not determine if EBV infection proceeded MS or if it was a complication.

Using blood samples collected by the Department of Defense of US military members, Munger and colleagues found preliminary evidence that EBV infection does happen before MS. They identified 305 MS cases and 610 matched controls. In cases where serum samples were collected before the onset of MS symptoms and measured EBV titers, they found that 38 were EBV negative at the time they went on active duty. During follow up, up until MS onset, 20 of the 38 became EBV positive. Eighteen remained EBV negative and did not develop MS.

This is a preliminary finding that needs to be replicated in a larger study, she said.

References

Hedstrm AK, Sundqvist E,Brnhielm M,et al. Smoking and two human leukocyte antigen genes interact to increase the risk for multiple sclerosis. Brain.2011;134(3):653-64.doi:10.1093/brain/awq371

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Unraveling the Impact of Lifestyle, Genetics on MS - AJMC.com Managed Markets Network

In recent years, a field that has traditionally relied on fossil discoveries has acquired helpful new tools: genomics and ancient DNA techniques. Armed with this combination of approaches, researchers have begun to excavate our species early evolution, hinting at a far more complex past than was previously appreciatedone rich in diversity, migration, and possibly even interbreeding with other hominin species in Africa.

To piece together that story, we need information from multiple different fields of study, remarks Eleanor Scerri, an archaeologist at the Max Planck Institute for the Science of Human History in Jena, Germany. No single one is really going to have all the answersnot genetics, not archaeology, not the fossils, because all of these areas have challenges and limitations.

[I]t was the advent of genetic research that showed unequivocally that populations outside of Africa descended from a single population in Africa. But the story had a twist: intwogroundbreakingstudiespublished in 2014, researchers compared ancient DNA extracted from Neanderthal bones and compared it with modern-day people, and found that 2 percent of the average European genome is Neanderthal in origin. Our species originated in Africa, but interbred with hominins outside of it.

These findings, and many since, have highlighted the power of genetics in resolving questions about human ancestry that fossils alone cannot.

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When 'bones and stones' are not enough: Genetics fills in the blanks in the story of human evolution - Genetic Literacy Project