StemCell Therapy

Even the most promising drugs can hit a pothole in the road to U.S. Food and Drug Administration (FDA) approval, particularly when working in the complicated, evolving world of gene therapies.

After touting positive Phase III resultsat ASH (American Society of Hematologys annual meeting),uniQuregot slapped with anFDA clinical holdfor their hemophilia B treatment due to a patient developing liver cancer.

Theresearch team alerted the FDA of the development after a lesion was found during a routine one-yearfollow-up.A hepatocellular carcinoma (HCC) isexpectedto be confirmed with a full surgical resection.

However, the cancer may not be related to the gene therapy, as this particular patient was high risk for liver cancerwith a long history of hepatitis C, hepatitis B virus, findings of non-alcoholic fatty liver disease and advanced age.UniQurepointed out thatchronicinfections with hep B and C are associated with 80% of HCC cases.

Patient safety will always be our top priority, and we are working closely with the FDA and our advisors to conduct a thorough investigation into the cause of this event which we expect to be completed in early 2021, said RicardoDolmetsch, Ph.D., president of R&D atuniQure. We will investigate whether there is a relationship to treatment. At this time, we do not have adequate data to determine a possible causal relationship, especially in the context of the other known risk factors.

The hold is not expected to affect the pivotal trial results as the dosing of the patients is completed.

While several treatments areavailable for hemophilia B, doctors and patients are holding out hope for a cure that will stop the disease at its source. Thats thepotential that genetic medicine has held for this area.

UniQuresdrug, AMT-061, substantially increased production of the blood-clotting protein factor IX, thefactor missing forhemophiliaBpatients,innearly all trial participants with moderate to severe disease.

Drug developers have run into a challenge with gene therapies in patients with high levels of neutralizing antibodies. Those antibodies can disarma gene therapyby attacking its viral vector delivery systembefore it ever has the chance to help thepatient.Many gene therapy trials wont enroll patients who test positive for neutralizing antibodies.

UniQuresgene therapy is delivered by an AAV5 vehicle, whichis believed to be harder to impair than other vectors.The company enrolled 23 patients with neutralizing antibodiespresent.Only one patient did not respondto the therapy. That was one who had a large amount of theantibodies- encouraging results that at least some with neutralizing antibodies could go on the therapy.

All patients in our hemophilia B gene therapy program, including the 54 patients in HOPE-B, will continue to be monitored by their care teams while we gather additional information as rapidly as possible, noted CEO Matt Kapusta. We do not anticipate any impact to our regulatory submission timeline for the hemophilia B program as a result of this clinical hold.

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Hope on Hold: Promising Hemophilia B Therapy Paused by FDA - BioSpace

MORGANTOWN, W.Va. (WV News) Dr. Mary Louise Russell is a member of the team of experts at the WVU Medicine Childrens that specializes in pediatric physical medicine and rehabilitation.

She and her colleagues treat children who have movement issues due to a wide range of causes, Russell said.

Sometimes the children only have movement problems, and sometimes the movement problems are part of a more complex picture, she said. For example, children with Down syndrome can have movement problems, and they might be behind on learning to walk. But, they might have other problems, too, like developmental delay and even some other medical difficulties, like heart defects or GI problems.

She sees children of all ages, from just nine days old to beyond age 18, Russell said.

For new patients, well go all the way to 18 years. Although, for some who have had pediatric onset of chronic conditions, well see them into at least young adulthood, say mid-20s, she said. That would usually be a person with cerebral palsy.

Cerebral palsy is among the most common diagnosis she sees, Russell said.

Cerebral palsy is a problem with how the brain works that effects how somebody moves. It can be confined to the movement control part of the brain, or there may be other problems, like seizures or developmental delay, she said.

There are a variety of treatments for patients with cerebral palsy, Russell said.

The first treatment to be used is physical and occupational therapy, she said. In the United States, there is a service called Birth to Three or Early Intervention that is a federal government-supported service administered by states for kids to get in-home therapy services.

Other treatments for cerebral palsy include braces, walkers, crutches, or wheelchairs, Russell said.

Medications can be administered to reduce tone spasticity, and orthopaedic or neurosurgery can help to reduce muscle spasticity, she said. There is a variety of possible treatments that cover a range of issues.

The COVID-19 pandemic has forced her to rely on remote visits with some patients, which isnt quite the same as seeing them in person, Russell said.

I think its better than nothing, but for what I do say for a patient with cerebral palsy I really like to be able to feel how much resistance they give me when trying to stretch their arms or their legs, she said. Thats kind of a hard thing to do from a screen.

She looks forward to being able to see all of her patients in-person again in the near future, Russell said.

A lot of families right now are reluctant to bring their children for in-person visits, and I can understand. Many of these kids are medically fragile or chronically ill, she said. We just need to wait a little while longer for their in-person visits.

Russell, who has more than 30 years of medical experience, said she has seen significant leaps in what genetics can reveal about a patients condition.

What has been the biggest help to us has been advances in genetics, she said. I can remember when we would just diagnose them and say They have low muscle tone. Now, were able to identify genetic syndromes and where parts of a chromosome may be missing or duplicated.

When she was first starting out information was much more limited, Russell said.

Having genetic information helps you with set reasonable goals, she said. You may not be able to fix the underlying problem, but you know what to expect and to plan for.

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WVU Medicine Children's Dr. Mary Louise Russell brings 30-plus years experience in the treatment of children with movement issues - WV News

Dozens of countries have banned travel from the UK in an effort to contain a new Covid-19 variant first reported in England.

The new mutation is being called VUI-202012/01 the first "Variant Under Investigation" in the UK in December 2020. While scientists hunt for more information about the variant, its impact is already being felt, with dozens of countriesimposing restrictions on travelers from the UK.

Here's what we know so far about the Covid-19 variant:

What is a variant and why are officials concerned about this one?A variant occurs when the genetic structure of a virus changes. All viruses mutate over time and new variants are common, including for the novel coronavirus.

Like other variants, this one carries agenetic fingerprint that makes it easy to track, and it happens to be one that is now widespread in southeast England. That alone does not necessarily mean a variant is more contagious or dangerous.

But scientists advising the UK government have estimated that this variant could be up to 70% more effective at spreading than others. Peter Horby, chair of theNew and Emerging Respiratory Virus Threats Advisory Group(NERVTAG), said Monday that experts "now have high confidence that this variant does have a transmission advantage" over other variants.

The World Health Organization said Tuesday that the changes to the variant include 14 key mutations, and that some of them "may influence the transmissibility of the virus in humans," though it added that further laboratory investigations were needed.

Where did the variant originate and how has it taken hold?The new variant is believed to have originated in southeast England, according to the WHO. Public Health England (PHE) says backwards tracing, using genetic evidence, suggests the variant first emerged in England in September. It then circulated in very low levels until mid-November.

Chris Whitty, England's chief medical officer, said Saturday the variant was responsible for 60% of new infections in London, which have nearly doubled in the last week alone.

Multiple experts have also suggested that this new variant could have been amplified because of a superspreader event, meaning the current spike in cases could also have been caused by human behavior.

Is the new variant more deadly? There is no evidence as of now to suggest that the new variant is more deadly, according to Whitty and the WHO, though it is too early to tell.

Several experts have noted that in some cases, virus mutations that increase transmissibility are accompanied by a drop in virulence and mortality rates.

"As viruses are transmitted, those that allow for increased virological 'success' can be selected for, which changes the properties of the virus over time. This typically leads to more transmission and less virulence," Martin Hibberd, professor of emerging infectious disease at the London School of Hygiene & Tropical Medicine, told the SMC.

Learn more about the UK coronavirus varianthere.

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The latest on the coronavirus pandemic and vaccines: Live updates - CNN

As the COVID-19 vaccine starts rolling out across the country, pregnant or breastfeeding women may be wondering if they should get it too.

First, the unknowns: Because clinical trials didnt include pregnant patients, there is no conclusive evidence related to vaccine safety and efficacy during pregnancy.

What experts do know: Pregnant patients are at higher risk of severe disease and worse outcomes from COVID-19 than non-pregnant peers and therefore would benefit from protection from the virus.

We have been following the research and federal guidance closely about pregnancy and the COVID-19 vaccine, says Molly Stout, M.D., MSCI, maternal fetal medicine director at Michigan Medicine Von Voigtlander Womens Hospital.

Based on the current information available and known risks of COVID-19 severity in pregnancy, we strongly recommend that pregnant and nursing people have access to the vaccine. We advise patients to discuss potential benefits and unknown risks specific to their individual situation with their healthcare provider.

Stout responds to some of the top questions about the COVID-19 vaccine and pregnancy:

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Stout: No, the vaccines have not been studied in pregnancy specifically. A few unexpected pregnancies occurred during the vaccine trials in participants, but we dont have further data on those cases at this time. There are ongoing efforts to include pregnant women in current COVID-19 vaccine trials.

Stout: Because pregnant women were not included in the early studies, we cannot be certain of how well the vaccine will work in pregnancy. The vaccine appears to be 95% effective in reducing COVID-19 disease in non-pregnant individuals. We also do not have specific safety information in pregnancy. However, the consensus of scientists, doctors, and professional organizations in the U.S. is to support pregnant women receiving the vaccine because the health risks of COVID-19 in pregnancy can be severe.

This recommendation is based on the known risk of COVID-19 in pregnancy and the biology of mRNA vaccines which are made with a string of the virus genetic material (a message of RNA that generates protein) and not the virus itself.

The technology of mRNA vaccines has been available for a long time and in general the risks from this form of vaccine are low. Also, the safety profile of the vaccine from the randomized control trials in non-pregnant individuals suggested no significant safety concerns.

Stout: Its important to understand that there is no way to get COVID-19 from the vaccine. While some vaccines are called live because they contain the virus, the COVID-19 vaccine is not one of them. However, when your immune system is doing its job reacting to the vaccine, you may experience some flu-like symptoms.

Eighty-four percent of people in the studies experienced redness or soreness at the site of the injection, over half felt fatigue and a headache, 1/3 had muscle pain and chills and 15-20% had joint pain or a fever.

Scientists think these symptoms are related to the vaccine activating your immune system to make the cells and proteins against COVID-19. There havent been any dangerous safety events that occurred more commonly in people who got the vaccine.

Stout: Vaccination is recommended for nursing mothers because benefits of the vaccine outweigh the theoretical risks regarding the safety of vaccinating.

Vaccine trials excluded lactating individuals, so we dont have any clinical data on the safety of the vaccine during lactation. However, because of the biology of the vaccine, (which doesnt involve a live virus) there should be no transfer into breastmilk.

In fact, antibodies from the lactating mother that transfer into the breastmilk may actually protect the breastfeeding child. The Academy of Breastfeeding Medicine does not recommend stopping breastfeeding for people who get the COVID-19 vaccine.

Stout: We have seen some misinformation about this topic. It is too early to know whether the vaccine has any impact on fertility, but we dont suspect it does.

The mRNA vaccines do not incorporate into the genetic material of the individual. The mRNA is the code or message to make a protein that helps the body react more quickly if exposed to COVID-19. Thus, there is no genetic reason an egg or a sperm would be affected by the vaccine.

A pregnancy test prior to vaccination isnt recommended or required.

Stout: Because of their higher risk of exposure, certain groups have been prioritized for initial vaccine distribution, including healthcare workers, first responders and workers in long-term healthcare facilities.

The general guidance is that pregnant patients who are in these frontline categories should be able to receive the vaccine as soon as they meet the criteria and its available to them.

Stout: Right now there havent been any recommendations to change dosing or schedules for the COVID-19 vaccine for people with allergies who experience anaphylaxis.

Stout: Recent studies have suggested that pregnant people who contract COVID-19 have a higher risk of severe illness and outcomes, such as being admitted to intensive care, being put on a ventilator and dying than non-pregnant women with the virus. These risks are higher for women of color, including African-American and Hispanic populations.

Adverse pregnancy outcomes such as preterm birth for COVID-positive patients have also been reported, but data in this area are still evolving.

Given these risks, pregnant patients should consider getting vaccinated against the virus and also take all other precautions to protect themselves from exposure by socially distancing, wearing masks and following safety guidelines.

Stout: Studies are limited in this area as well. There have been cases of newborns testing positive for COVID-19 shortly after birth. Whats unclear is whether they were infected with the virus before, during, or after birth from close contact with someone who had the virus.

Most newborns who tested positive for COVID-19 had mild or no symptoms.

Stout: The vaccine has been shown to decrease your chance of having COVID-19 symptoms and severe disease. What is unknown is whether vaccinated people can still carry and transmit the virus. For this reason, the recommendation is to continue to wear masks, socially distance and maintain other recommended safety measures even for people who have been vaccinated.

Stout: There have been efforts to collect outcomes data on pregnant women who have received the vaccine and our hope is that vaccine manufacturers report this information as it becomes available.

Development of the COVID-19 vaccine is a major scientific feat and marks the fastest vaccine development and distribution to date. Doctors and scientists agree COVID-19 vaccines will be a critical measure in slowing the spread and mortality associated with COVID-19. The downside of this remarkable scientific success is we have to be able to continue to collect longer term data as we follow pregnant and non-pregnant patients forward in time and continue to track vaccine success.

Stout: Based on what we know about how COVID-19 may negatively impact a pregnant patients health, we see great benefits to patients being protected from the virus through all measures available, including the vaccine.

We expect recommendations to continue to evolve as more data are collected about these vaccines and their use in specific populations, including pregnant patients. We will be following this evolving data closely and keeping all obstetric care providers at Michigan up to date.

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Should Pregnant and Breastfeeding Patients Get the COVID-19 Vaccine? - University of Michigan Health System News

As the world grapples with the pandemic amid the origin of newer and potentially lethal strains, BioNTech CEO Ugur Sahin has said that the deadly virus is going to stay with us for the next decade at least.

In a virtual press conference this week, Sahin spoke about the potential virus deadline when asked when life could return to normal.

"We need a new definition of normal. The virus will stay with us for the next 10 years," he told mediapersons.

Sahin also said that the vaccine can be adjusted for the new UK variant in about six weeks.

"In principle, the beauty of the messenger technology is that we can directly start to engineer a vaccine which completely mimics this new mutation - we could be able to provide a new vaccine technically within six weeks," he was quoted as saying in media reports.

Sahin said he was confident that the new variant of the Covid-19 strain in the UK would not impact the efficacy of the vaccine.

The new strain of Covid is causing worry all around the world including in India, and it remains to be seen what effect it could have.

After the discovery of a second new variant of the novel coronavirus in Britain, the UK has reported the highest number of Covid-19 fatalities this week, since late April.

Health Secretary Matt Hancock said that the second new variant was reportedly related to travellers from South Africa, and two cases have been reported so far.

"This new variant is highly concerning because it is yet more transmissible and it appears to have mutated further than the new variant that has been discovered in the UK," he said this week.

As a result, Johnson imposed Tier Four restrictions om London and other parts of England.

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Covid virus will stay with us for next 10 years: BioNTech CEO - ETHealthworld.com

More than a year after the first cases of COVID-19 were detected, researchers are still trying to understand why some people infected with the virus become critically ill, while others have little to no symptoms. Scientists have turnedto look at the genes of patients with severe COVID-19 to understand if their bodies mount an immune defense differently than healthy patients do. A genome-wide association study published in Natureon December 11 finds that variants of five key genes responsible for antiviral immunity and lung inflammation are associated with severe COVID-19.

The findings offer potential therapeutic targets to create an effective COVID-19 treatment. Our results immediately highlight which drugs should be at the top of the list for clinical testing, Kenneth Baillie, a consultant in critical care medicine and a senior research fellow at the University of Edinburgh, tells Reuters.

Baillie and his colleagues analyzed the DNA of 2,244 patients across 208 UK intensive care units and compared it to matched controls who did not have a positive COVID-19 PCR test on file. They identified eight loci where variants were more common among the intensive care patients, of which five were in genes linked to the immune systemIFNAR2, TYK2, OAS1, DPP9, and CCR2.

An analysis looking into the relationship between the activity of certain genes and severe COVID-19 pointed to a lower expression of IFNAR2, a gene that encodes a building block of a receptor for interferons, which act as emergency flares to warn the immune system of an intruder and have been a target for researchers hoping to develop a COVID-19 treatment. However, administering interferon to hospitalized COVID-19 patients did not reduce mortality, according to a large clinical trial published earlier this month.

The researchers also homed in on a possible link between severe COVID-19 and higher expression levels of TYK2and CCR2, which encode proteins used in cytokine signaling, which drives inflammation and can lead to lung injury. The anti-inflammatory drug baricitinib, typically used to treat rheumatoid arthritis, inhibits the protein encoded by the TYK2gene and has shown promising results in treating COVID-19 when paired with remdesivir, a broad spectrum antiviral that has shown limited effectiveness against the virus by itself, according to a study published December 11 in The New England Journal of Medicine.

While the Naturestudy may offer clues for the genetic underpinnings of severe COVID-19 infection, finding an effective treatment in humans may still be years away. There is no guarantee that when a gene is found, targeting that gene will result in therapeutic efficacy, Tom Hemming Karlsen, a physician at the University of Oslo who did not participate in the new work, tells The Washington Post. What genetics studies like this then do is they help us find very specific starting points for further investigation.

The authors' investigation indicated that there is a causal role for IFNAR2 and TYK2. Sara Clohisey, a research fellow at the University of Edinburgh and a coauthor of the Nature study, notes that there are likely many other factors beyond these gene variants that contribute to COVID-19 disease severity.

A chunk of the answer is in our genes, but its unlikely that a single element is fully responsible for the development of severe COVID-19, she tells the Post. Its more likely to be a combination of factors, which may include genetics as well as age, obesity, gender, and other characteristics.

Correction (December 15): A previous version of this article misinterpreted Sara Clohisey's comments about the causality of her findings.The Scientistregrets the error.

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Key Genes Related to Severe COVID-19 Infection Identified - The Scientist

You might have heard of racial essentialismthe decades-old belief races are biologically distinct groups determined by genes. It has no scientific basis, yet it lingers, along with many other racist ideas, in U.S. health policies and clinical practices. Along with racism in medicine, the belief has perpetuated generations of harm.

In Examining Race-Based Medicine, a recent episode in the AMA Prioritizing Equity video series, a panel of experts discussed the core criticisms of race-based medicine and what physicians can do proactively to oppose it in clinical practice, medical education and research.

At the November 2020 AMA Special Meeting, the House of Delegates adopted policy to counteract the notion of racial essentialism, which was identified in a resolution presented at the meeting as the belief in a genetic or biological essence that defines all members of a racial category. It was one of the several actions that delegates took to oppose racism and advance equity in medicine and public health.

How we got here

Perhaps the most infamous example of race-based medicine is the use of isosorbide dinitrate/hydralazine(marketed as BiDil) to treat congestive heart failure in African Americans. The Food and Drug Administration at first rejected the drugs application after a clinical trial failed to show the drug's efficacy for a multiracial population.

After looking over their data, though, the drugmaker, NitroMed, ran a clinical trial that enrolled only men and women who self-identified as African American. The results showed sufficient decrease in mortality and reduction in risk of first hospitalization against placebo, and the FDA approved itfor Black patients onlyin 2005. It was the first drug approved for a single racial group.

But the study had at least one major flaw: It had no control group. Fifteen years later, BiDil remains, according to the drugmakers website, the only heart failure medicine specifically indicated for self-identified African American patients.

The story of BiDil demonstrates how durable race-based medicine can be. There are also years-old race adjustments in clinical algorithms, such as the estimated glomerular filtration rate (eGFR) equation and the vaginal birth after Cesarean section (VBAC) calculator. Some have only dubious evidence supporting them; others have been shown to produce negative health outcomes.

What race-based medicine tells me [is] if I go into a clinic and I need to do spirometry to test my lung function, then what I'm being told is, because I'm of Asian race, that my lung function should be corrected differently than that of a white or a black person, said RohanKhazanchi, amedical student at University of Nebraska Medical Center College of Medicine.

That implies that there's something different about my lungs than [those] of somebody else, and it implies that there's a biological trait that is different in me than somebody elsejust because I'm Asian, said RohanKhazanchi. But race is merely a social and political construct. It is not, he noted, equivalent to ancestry or genetics.

We just need to think about how nonsensical this is in a biological and scientific sense, Khazanchi said. It's important to know that race as a category has changed throughout time in American society, he added, noting that U.S. Census definitions of race change every 10 years. So it's not even a stable category.

How to counter it

The panelists noted several ways that physicians can actively stamp out race-based medicine.

Adapt your programs. For example, the Maternal-Fetal Medicine Units Network, created by the National Institute of Child Health and Human Development, is revising its VBAC calculator to omit race/ethnicity. This change came after scholarship and advocacy over several years by medical trainees and physicians challenging this use of race adjustment, led by one of the panelists, Darshali Vyas, MD.

In medical school the VBAC calculator was one striking example of the potential damage done by correcting for race where racial inequity already exists. But this practice is widespread in medical tools, said Dr. Vyas, a resident physician at Massachusetts General Hospital who recently co-wrote a New England Journal of Medicine article outlining additional examples of race correction in medicine.

Hammer home research inconsistencies. So much scholarship on race-based medicine doesnt define the major operating variable, said Michelle Morse, MD, MPH, a hospitalist and assistant professor at Harvard Medical School. Why is the burden of proof on us to prove that it's faulty when there's so much going against some of this existing data?

Partner with quality improvement experts. You should have help at your institution in your effort to advance accountability and outcomes, as well as at state and federal agencies.

Push for nationwide agreement. Right now, there's huge variability in terms of institutions who have access to certain biomarkers, who are using different eGFR equations, said NwamakaEneanya, MD, MPH, attending nephrologist and assistant professor of medicine and epidemiology at the Perelman School of Medicine at the University of Pennsylvania.

We all need to get on the same page and think about what's the most equitable option that will be safe for our patients? she said.

Dr. Eneanya is part of a race and eGFR task force formed by the National Kidney Foundation and American Society of Nephrology that will help standardize race and eGFR reporting across the country and also advance health equity for patients with kidney disease.

Systemwide bias and institutionalized racism contribute to inequities across the U.S. health care system. Learn how the AMA is fighting for greater health equity by identifying and eliminating inequities through advocacy, community leadership and education.

Check out recent episodes in the Prioritizing Equity video series on research and data for health equity and moving forward after the 2020 elections.

Read the rest here:
Race-based medicine is wrong. How should physicians oppose it? - American Medical Association

News Release

Thursday, December 10, 2020

The National Institutes of Healths All of Us Research Program has begun to return genetic results to participants who have donated biosamples for research. This reflects the programs priority to give back information to its research volunteers. Initially, participants can choose to receive information about their genetic ancestry and traits, with health-related results available at a later date.

The All of Us Research Program is working to build a diverse community of 1 million or more participant partners across the U.S. to help researchers learn more about how genetics, environment and lifestyle factors affect health outcomes. Participants share information in a variety of ways, including surveys, electronic health records, biosamples (blood, urine and/or saliva) and more. Data is stripped of personal identifiers and made available for research through the All of Us Research Hub.

As part of its core values, the program is committed to ensuring that participants have access to their own information, and many participants have expressed a strong desire to understand what their DNA can tell them.

Were changing the paradigm for research, said Josh Denny, M.D., All of Uss chief executive officer. Participants are our most important partners in this effort, and we know many of them are eager to get their genetic results and learn about the science theyre making possible. Were working to provide that valuable information in a responsible way.

The program's in-depth genetic analyses include both whole genome sequencing and genotyping. Whole genome sequencing focuses on the more than 3 billion base pairs in the human genome, while genotyping looks at millions of genetic variants focused on peoples most common genetic differences.

To return genetic information, the program has developed a robust informed consent process, giving participants information and choice about whether or not to receive results and which results they want to get back. The program also provides access to genetic counselors to help answer questions from participants and their health care providers.

All of Us teamed up with a network of awardees across the country to support this work, including the health technology company Color, to return the personalized results on genetic ancestry and traits, and a set of leading genome centers to generate the genetic data: Baylor College of Medicine, the Broad Institute and the Northwest Genomics Center at the University of Washington, alongside their partners.

With the All of Us Research Program, were beginning to return results for a genomics program that is of unprecedented scale, said Alicia Zhou, Ph.D., chief science officer at Color. For a long time, the research community has recruited participants into large-population genomics studies without returning any results back to them. With All of Us, weve provided the tools to do just thatin a convenient and accessible way. We now have a real opportunity to return value to participants.

All of Us is taking a phased approach to the return of genetic results and will offer additional results over time. In about a year, the program plans to begin offering participants the option to receive information about how their DNA may affect their bodys response to certain types of medicines (pharmacogenetics), and about genetic variants associated with the increased risk of certain diseases, based on guidelines of the American College of Medical Genetics and Genomics. Participants will receive information back as their DNA samples are processed, so not everyone will receive information immediately.

Since All of Us opened enrollment nationwide in 2018, more than 270,000 people have contributed biosamples and more than 80 percent come from communities that are historically underrepresented in biomedical research. These include racial and ethnic minorities, sexual and gender minorities and other groups.

We need programs like All of Us to build diverse datasets so that research findings ultimately benefit everyone, said Brad Ozenberger, Ph.D., All of Uss genomics director. Too many groups have been left out of research in the past, so much of what we know about genomics is based mainly on people of European ancestry. And often, genomic data are explored without critical context like environment, economics and other social determinants of health. Were trying to help change that, enabling the entire research community to help fill in these knowledge gaps.

All of Us plans to begin making genetic data available to researchers in about a year, with strict privacy and security safeguards in place to protect participants information. The program seeks to engage researchers from diverse backgrounds to undertake a wide range of studies and learn more about how to tailor care to peoples different needs.

To learn more about All of Us and to join, visit JoinAllofUs.org.

About the All of Us Research Program: The mission of the All of Us Research Program is to accelerate health research and medical breakthroughs, enabling individualized prevention, treatment, and care for all of us. The program will partner with one million or more people across the United States to build the most diverse biomedical data resource of its kind, to help researchers gain better insights into the biological, environmental, and behavioral factors that influence health. For more information, visit http://www.JoinAllofUs.org and http://www.allofus.nih.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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NIH's All of Us Research Program returns first genetic results to participants - National Institutes of Health

Joaquin Casariego Garcia-Luben

Precision medicine is a term we are all familiar with in the industry, however its true meaning should not be underestimated.

Although its scientific basis is complex and is founded on an understanding that has taken many decades for the research community to uncover, it comes down to one very simple premise: that every patient is unique and requires bespoke medical care.

This is particularly true in oncology, where we are relentlessly undertaking research to help us uncover potential therapies which will target genes that have mutated or been altered. By focusing on the genetic make-up of the tumour itself when considering treatment pathways, we have the potential to see positive benefits in the clinical setting.

Developing transformational treatments

Finding solutions to the challenges we face in oncology, such as improving our understanding of the route for malignant tumour progression and early development, as well as meeting the needs of severely underserved patient populations, are my biggest driving ambitions.

For me, its a very personal challenge. Devastatingly, my father passed away this year due to cancer during the peak of the coronavirus pandemic in Spain. This tragedy has further strengthened my resolve to not rest until we, together as a community, can create a radically improved future for all oncology patients, their families and friends.

It is for people like my father, the hundreds of cancer patients I treated as a physician, and indeed my family, that I am so dedicated to my work every single day, both as a clinician and as a researcher. I am very much aware of my part in developing transformational and precise treatments that can improve peoples lives. To me, this means providing patients with the invaluable gift of more quality time: not just adding years to life, but also life to years.

Patient-centred research

Ultimately, I believe that precision medicine requires doing the right things, such as daring to innovate in more patient-centred research and doing things right by conducting research under the highest scientific, operational and ethical standards, while taking advantage of new technologies at our disposal.

In this endeavour to eradicate or intercept cancer, it is our duty to account for distinct differences in peoples -omics spectrum, but also importantly in their clinical, psychosocial and professional environments, while also considering unique lifestyle-related factors. All of which interact in one way or another, in every patient, linking subpopulations with similar features and so, prognosis and outcomes.

Through my work at Janssen I am privileged to be part of a company that is driven by the premise of providing personalised treatment solutions in cancer care. Across our solid tumours portfolio, we are confident that our approach to precision medicine will deliver significant societal value, by optimising patient care through improving disease prevention, diagnosis and treatment.

As I see it, precision medicine is truly an evolution where we are dedicated to moving away from a disease-focused model, so that we can translate technological advances into more patient-centred benefits.

Powering precision medicine

Biomarkers are well known in the oncology space and as a company we are determinedly pioneering research in areas where patients currently face poor clinical outcomes, such as those living with urothelial carcinoma (UC), the most common type of bladder cancer.

I am particularly proud of our achievements in this area, where we were the very first company to receive FDA approval for a fibroblast growth factor receptor (FGFR) inhibitor in advanced and metastatic bladder cancer harbouring an FGFR alteration, addressing the considerable unmet need for patients living with this disease.

Not only are we exploring this in bladder cancer, but we are also investigating a multitude of solid tumour types that bear these genetic aberrations so that a wider range of patients could potentially benefit from this research.

Targeted therapies

Furthermore, by following a similar trajectory in the treatment of non-small cell lung cancer (NSCLC), where we are studying specific alterations in the epidermal growth factor receptor (EGFR), we endeavour to provide options to a heavily underserved patient population.

Our teams of clinical researchers are unrelenting in their efforts to deliver data to support the treatment of patients who have NSCLC expressing exon 20 insertion mutations in the EGFR gene, who have extremely limited options currently, while also developing treatments to bring practice changing results.

In addition, DNA repair defects (DRD) such as BRCA- 1/2 or ATM mutations present in advanced- and late-stage prostate cancer represent a key focus for Janssen in complementing the continuum of targeted therapies now available to prostate cancer patients, including PARP inhibitors.

Its my firm belief that advances in all these research areas may provide important outcomes for patients living with these deadly diseases, and help to address one of the most pressing health challenges that exists: achieving long-duration and high-quality cancer survivorship.

Tailored solutions for patients

The patients of today are certainly more empowered and better-informed than ever before. I see examples of this every single day, and at Janssen we are devoted to ensuring that patients inform our every step, from providing input into the design

of our clinical trials, right through to our disease area strategies. An important element in ensuring treatments reach the right patients, at the right time and for the right outcome, when biomarkers play a critical role in patient outcomes, is through using a companion diagnostic. I am excited to see first-hand how, at Janssen, we are working to shape the personalised healthcare spectrum through accurate testing in the clinical setting.

The right test, performed at the right time, not only benefits patients directly but also helps to support healthcare systems by allowing medications to be used in the most appropriate patient populations and in an efficient way, from a resource perspective.

Biomarker testing

Thats why, in collaboration with our strategic industry partners, we are pursuing biomarker testing to accurately identify patients whose tumours harbour FGFR alterations, ensuring they receive appropriate treatments tailored to their needs. This, in turn, will help to guide treatment decisions in the clinical setting.

We are following a similar approach in lung cancer through an ongoing partnership to pursue a molecular diagnostic strategy for our early-stage investigational EGFR-MET bispecific antibody, which is being studied in the treatment of NSCLC.

Similarly, DRD testing in late stage prostate cancer is needed to identify patients who could potentially benefit from PARP inhibition. Through use of these diagnostics, we can limit inefficient use of healthcare resources and direct these back to where they truly matter patient outcomes.

I am constantly impressed by the tireless endeavours of our biomarker scientists whoare also working to create tests that detect the presence of androgen receptor (AR) abnormalities for people living with prostate cancer.

These tests are designed to detect multiple biomarker changes simultaneously, and efforts are ongoing to understand the changes that occur in circulating tumour cells (CTCs) as a result. This ongoing research will undoubtedly help us to better understand the development of prostate cancer at the molecular level, so that we can move towards more personalised treatments in this space, as well as in bladder and lung cancers.

Pushing the boundaries

Janssens precision medicine research, supplemented by new technologies such as Artificial Intelligence (AI), is pushing the boundaries of what we previously thought possible. We are working to make this beneficial for the patients of the future, by combining with big data collected from patients with a long- duration disease course.

This is exciting for a number of reasons, not least the potential to reformulate our understanding of the impact of different diagnostics and treatment approaches in clinical practice. More specifically, through our ORACULUM studies, we are using AI to analyse patient-level data that is collected through electronic health records across numerous countries in Europe, the Middle East and Africa.

This will give us the opportunity to inform the wider scientific community on new hypotheses for future trials. I firmly believe that, with the help of like-minded strategic partners and groundbreaking technological advances such as these, we are making huge strides on our combined journey towards changing what a cancer diagnosis means for the patients of today and tomorrow.

Cross-industry partnerships

With the evolving focus on precision medicine comes a great deal of change for the pharmaceutical industry, and vitally hinges on resilient, cross-industry partnerships. I strongly believe in the power of collaboration and our alliances take many forms, but our goal is always the same: to advance scientific research which has the prospects to deliver solutions that provide value to patients, physicians, payers and society as a whole.

Through this combined, robust approach I am optimistic that, as an industry, we will revolutionise the way we treat cancer and pave the way for the precision medicine of the future.

I look forward to a time when our ambitions to make cancer a manageable condition can become a reality, both for patients like my father and for their families because time has a wonderful way of showing us what really matters.

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Unlocking the potential of precision medicine in oncology - PMLiVE

The growth of the global polymerase chain reaction market is likely to be driven by its growing utilization in various clinical diagnostics, increasing demand for precision and personalized medicine. In addition, growing application in the development of drugs and technological progress is likely to work in favor of the global polymerase chain reaction market over the timeframe of analysis, from 2019 to 2029.

In the last few years, personalized medicine has gained increasing popularity due to its ability to offer tailor-made therapies to patients. Personalized medicines come with a high margin of safety and promise of offering improved patient care and lower the overall cost of healthcare. The increasing demand for personalized medicines is likely to generate immense opportunities for the genetic medicines. There is a growing need for the development of novel technologies, which can be utilized for the purpose of expansion of the global polymerase chain reaction market. In an attempt to attain competitive edge in the rising field of personalized medicine, pharmaceutical and biotechnological companies are exploring the grounds of direct-to-consumer genetic testing and genomic medicine. These factors are likely to foster growth of the global polymerase chain reaction market over the period of assessment, from 2019 to 2029.

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Product, end user, and region are the three significant parameters based on which the global polymerase chain reaction market has been categorized. The main purpose of such segmentation is to offer a lucid and detailed view of the said market.

Global Polymerase Chain Reaction Market: Notable Developments

The global polymerase chain reaction market is marked with presence of quite a few prominent players and it is considered moderately competitive market for both the existing players and new entrants. These companies are entering into partnerships, collaborations, and mergers in an effort to gain larger revenue and share of the market.

Some of the key players in the global polymerase chain reaction market comprise the below-mentioned:

Global Polymerase Chain Reaction Market: Key Trends

The below-mentioned market dynamics are estimated to characterize the global polymerase chain reaction market over the assessment period, from 2019 to 2029.

The development of the global polymerase chain reaction market is likely to gather momentum with the outbreak of Covid-19 across the globe. In an effort to facilitate growth of personalized medicine, it is essential to come up with reproducible and precise tool of gaining information about molecule about underlying conditions. Such developments are likely to guide correctly the clinical decision making abilities with a large number of tests making use of PCR techniques. All these factors are likely to pave way for growth of the global polymerase chain reaction market over the timeframe of analysis, from 2019 to 2029.

In addition to Covid-19, outbreak of infectious diseases, such as Zika has generated increased demand for PCR-based molecular assays. This technique is gaining increased importance for the purpose of identification of pathogens of these infectious diseases, which is why the demand for polymerase chain reaction is likely to rise in the years to come.

Global Polymerase Chain Reaction Market: Geographical Analysis

North America is expected to dominate the growth of the global polymerase chain reaction market over the timeframe of analysis, from 2019 to 2027. Growth of the North America is ascribed to the presence of flexible regulatory guidelines and favorable government initiatives, Asia Pacific is likely to come up as rapidly growing region in the global polymerase chain reaction market. Improvement in the healthcare infrastructure and increased expenditure on healthcare industry is expected to propel growth of the Asia Pacific market in the years to come.

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The global polymerase chain reaction market is segmented as:

Product

Application

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Polymerase Chain Reaction Market | Increased Outbreak of Infectious Diseases to Accentuate Demand in the Market - BioSpace

LEXINGTON, Mass., Dec. 14, 2020 /PRNewswire/ --LogicBio Therapeutics Inc. (Nasdaq: LOGC), a clinical stage genetic medicines company developing therapies based on advanced gene editing technology and next-generation synthetic capsids, today announced that Daphne Karydas and Jeff Goater have been appointed to the Company's board of directors.

"We are excited to welcome Daphne and Jeff. They both bring an impressive depth of experience and proven leadership in the areas of corporate finance, global strategic planning, mergers and acquisitions and strategic partnerships in the biopharma sector," said Frederic Chereau, LogicBio president and CEO. "As we plan for many major developments at LogicBio including initiation of our phase 1/2 SUNRISE clinical trial for LB-001, we believe their expertise will play a central role in guiding our corporate strategic planning and help us reach new levels of momentum in all operational areas."

Ms. Karydas is chief financial officer at Syndax Pharmaceuticals, a clinical stage biopharmaceutical company developing an innovative pipeline of cancer therapies. Previously, she served as senior vice president of corporate financial planning & analysis and strategy at Allergan plc, where she oversaw financial and business strategy through the company's acquisition by Abbvie in May 2020. Prior to joining Allergan, Ms. Karydas spent over 17 years in asset management and investment banking focused on the bio-pharmaceutical sector. She served as a senior healthcare analyst at J.P. Morgan Asset Management and a portfolio manager and senior healthcare analyst at The Boston Company Asset Management and was a vice president at Goldman Sachs Asset Management and a member of Goldman Sachs' healthcare investment banking team. She began her career as a project chemical engineer at Merck & Co. and earned a B.S. and M.S. in chemical engineering from the Massachusetts Institute of Technology and an M.B.A. from Harvard Business School.

Mr. Goater is chief executive officer at Surface Oncology, an immuno-oncology company developing next-generation antibody therapies. Previously he was chief financial officer of Voyager Therapeutics, helping to guide the company through an initial public offering and establishment of a strategic partnership with Sanofi Genzyme. For almost ten years he was an investment banker, most recently at Evercore Partners where he was an advisor on more than $100 billion in strategic transactions in the biopharma industry. He began his career as a research scientist and earned master's degrees in microbiology/immunology, pathology and business administration from the University of Rochester.

"I am especially excited to be joining the LogicBio board of directors as the Company plans for a range of promising product development milestones and business opportunities based on the potential of the platform," said Ms. Karydas. "I look forward to working with the team to expand the Company's progress and target new opportunities in the rapidly emerging gene editing space."

"In recent years, LogicBio has made significant progress both in advancing its pipeline and in positioning the Company for many promising opportunities in research and business development," said Mr. Goater, adding, "I look forward to joining with the other members of the board in helping the Company achieve its mission of bringing innovative therapies to patients with rare diseases around the world."

"As we welcome Daphne and Jeff to our board, we also are very grateful to Erez Chimovits and Daniel O'Connell, who are stepping down from our board, for their service during several formative and active years for our Company," Mr.Chereau added.

About LogicBio Therapeutics

LogicBio Therapeuticsis dedicated to extending the reach of genetic medicine with pioneering platforms. LogicBio's proprietary genome editing technology platform, GeneRide, enables the site-specific integration of a therapeutic transgene without nucleases or exogenous promoters by harnessing the native process of homologous recombination. LogicBio has received FDA clearance for the first-in-human clinical trial of LB-001, a wholly owned genome editing program leveraging GeneRide for the treatment of methylmalonic acidemia. Patient enrollment in the phase 1/2 SUNRISE clinical trial is expected to begin in early 2021. In addition, LogicBio has a collaboration with Takeda to research and develop LB-301, an investigational therapy leveraging GeneRide for the treatment of the rare pediatric disease Crigler-Najjar syndrome.

LogicBio is also developing a Next Generation Capsid platform for use in gene editing and gene therapies. Data presented have shown that the capsids deliver highly efficient functional transduction of human hepatocytes with improved manufacturability with low levels of pre-existing neutralizing antibodies in human samples. Top-tier capsid candidates from this effort have demonstrated significant improvements over benchmark AAVs currently in clinical development. LogicBio is developing these highly potent vectors for internal development candidates and potentially for business development collaborations.

Forward Looking Statements

This press release contains "forward-looking" statements within the meaning of the federal securities laws. These are not statements of historical facts and are based on management's beliefs and assumptions and on information currently available. They are subject to risks and uncertainties that could cause the actual results and the implementation of the Company's plans to vary materially, including the risks associated with the initiation, cost, timing, progress and results of the Company's current and future research and development activities and preclinical studies and potential future clinical trials. These risks are discussed in the Company's filings with theU.S. Securities and Exchange Commission(SEC), including, without limitation, the Company's Annual Report on Form 10-K filed onMarch 16, 2020, the Company's Quarterly Report on Form 10-Q filed on May 11, 2020, and the Company's subsequent filings with theSEC. Except as required by law, the Company assumes no obligation to update these forward-looking statements publicly, even if new information becomes available in the future.

Media contact:Jenna UrbanBerry & Company Public Relationsjurban@berrypr.com212 253 8881

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SOURCE LogicBio Therapeutics, Inc.

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LogicBio Therapeutics names Daphne Karydas and Jeff Goater to Board of Directors - BioSpace

The science is getting sharper and the barriers to reimbursement are eroding. But another major obstacle remains to delivering on the promise of precision medicine.

It involves getting the right information into the hands of front-line doctors in a way that they can use it, experts and entrepreneurs in the field said in a series of interviews with MedCity News.

The critical information has to be on one page. The clinician has to be able to interpret it in one minute, said Daniel Rhodes, co-founder and CEO of Strata Oncology, a genetic testing and data company based in Ann Arbor, Michigan. If we can do that, we can expand the use of the most compelling therapies and trials that are available.

Precision medicine relies on collecting genetic and genomic information from patients and using the results to target therapies, be it in oncology or in rare and difficult-to-treat diseases. The information can also determine whether a given medication will work for more common ailments. However, genetic-test results and treatment guidance often arrive in a lengthy format that can take time to decipher.

Not surprisingly, roughly two-thirds of Americans still have not heard of precision or personalized medicine, according to a fall survey by the Personalized Medicine Coalition, based in Washington, D.C. Only 11 percent of patients say their doctors have discussed or recommended personalized treatment options, the coalition added.

Perhaps the greatest challenge to integrating personalized medicine into health care is a lack of education and awareness among patients and health care professionals, the coalition wrote in a November report.

The need for clearer information propelled the launch of 2bPrecise. The Raleigh, North Carolina-based company has developed a platform to bring genetic and other data to the point of care to help create more tailored plans for patients. The platform, for example, could determine whether a patient might benefit from a current clinical trial or help doctors understand a patients response to certain medications.

Dr. Joel Diamond, the companys chief medical officer and a co-founder, said critical information often is buried in dense, lengthy documents. An aha moment came when he and the companys CEO, Assaf Halevy, were listening to someone talk about how advances in cancer genetics would change cancer care. The speaker was showing a 30-page PDF packed with technical language.

One nugget was important to the oncologist to treating a patient, said Diamond, who still cares for patients at a family practice in Pittsburgh. But it was one nugget in this 30-page PDF.

Another challenge for community oncologists is the rapid pace of change in precision medicine, said Priti Hegde, chief scientific officer at Foundation Medicine, a cancer diagnostics company based in Cambridge, Massachusetts, now part of Roche.

Foundation Medicine and other companies are quickly developing liquid biopsies and other tests that can match a specific therapy based on the genetic make-up of a patients tumor. Originally targeting advanced cancers, the therapies themselves are moving into earlier and earlier lines of treatment.

I think the more complex the treatment landscape becomes, the more we need to simplify the decision landscape for oncologists, Hegde said,

Foundation Medicine has been taking steps in that direction. In 2015, for example, the company launched a molecular tumor board program to help practicing oncologists understand the companys reports and their clinical utility. At the same time, the forums help the company learn what oncologists need, Hegde said.

Understanding what keeps oncologists from leveraging precision diagnostic tools is really helping us figure out how to help them, she added.

Educating doctors also is a focus for Color, a health technology company whose services include genetic testing. About half the calls to its genetics counselors come from physicians, said Alicia Zhou, chief science officer at Color, which is based in Burlingame, California.

Some doctors, already well-informed on genetics, are calling to probe the technical underpinnings of a report, Zhou said in a phone interview. Others may be more in need of a primer, particularly if they went to medical school before genetics was a common area of study.

We want to make sure your primary care provider knows what to do with our results, Zhou said.

The widespread use of genetic and genomic data in health care is inevitable, Zhou said. The question is when is that future. Is it 50 years from now? Is it 10 years? Is it five? The difference between making it 50 years from now versus five years is making sure the medical community can use the data without feeling like it is a giant unknown.

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Getting the right data to doctors is next hurdle for precision medicine - MedCity News

WASHINGTON, Dec. 15, 2020 /PRNewswire/ --Over the last 30 years, significant progress has been made in the fight against cancer. Researchers have expanded their understanding of how cancer develops and how to target medicines for specific cancer types. Since peaking in 1991, the death rate associated with cancer declined by 29%, which translates to 2.9 million fewer cancer deaths. The most recent data shows that between 2016 and 2017 alone, cancer death rates declined by 2.2%, the largest single-year drop ever recorded. Despite the challenges imposed by the COVID-19 pandemic, this momentum continues with biopharmaceutical companies focusing on research and development of innovative cancer therapies.

Still, cancer remains the second leading cause of death in the United States, accounting for 21% of all deaths. It is estimated that new cancer cases reached 1.8 million in 2020, increasing demand for earlier screening and diagnosis, as well as new treatments to address substantial unmet medical needs so patients can continue to live long and healthy lives.

To continue the progress and deliver hope to those battling cancer, biopharmaceutical research companies are working to develop more effective and better tolerated treatments.

A new report today from PhRMA finds that more than 1,300 medicines and vaccines for various cancers are currently in development, either in clinical trials or awaiting review by the U.S. Food and Drug Administration.

New medicines have played a key role in cancer survival gains, much of which are driven by advances in molecular and genomic research that have revealed the unique complexities of cancer and changed our understanding of the disease. Examples of the science behind potential new cancer treatments include:

The more than 1,300 medicines and vaccines in development represent an increased recognition among researchers that no two cancers are alike, which has led to further adoption of personalized medicine and the creation of treatments to target cancers specific to a single person. As researchers continue to explore life-saving methods and technologies to fight cancer, it is important we foster an innovation ecosystem that encourages ongoing research and development in this space.

To read the new report on medicines and vaccines in clinical testing for various cancers, click here.

Learn more about cancer at PhRMA.org/Cancer

SOURCE Pharmaceutical Research and Manufacturers of America (PhRMA)

http://phrma.org

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Report: More than 1,300 Medicines and Vaccines in Development to Help Fight Cancer - PRNewswire

Investigators find clues in large database of Kaiser Permanente members

By Jan Greene

People can look to the Northern European side of their genetic heritage for increased risk of nonmelanoma skin cancer, according to the first large analysis of genetic risk factors for cutaneous squamous cell carcinoma in diverse populations with European ancestry. The study was published Dec. 14 in the journal Communications Biology.

Hlne Choquet, PhD, staff scientist, Division of Research

The authors examined people of varying race and ethnicity who participated in the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH). They focused on the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort, a subgroup of more than 100,000 Kaiser Permanente Northern California members who volunteered their genetic and medical information for research.

We knew that people of European ancestry with lighter skin have a higher risk of cutaneous squamous cell carcinoma, said lead author Hlne Choquet, PhD, a staff scientist with the Kaiser Permanente Division of Research (DOR). We wanted to find out the risk both within and between European ancestry populations and other populations, and whether there are genetic factors involved, and it appears that there are.

Cutaneous squamous cell carcinoma is a common cancer and its incidence is increasing not only in non-Hispanic white people but also in Latinos and Asians. While it is not usually life-threatening, if allowed to grow it can become disfiguring, spread, and even become deadly.

Latinos are complex to study because they may have ancestry deriving from multiple continents; a 2015 study of the GERA cohort by the same research group found most of those who described themselves as Latinos have European genetic ancestry along with Native American ancestry, and some have evidence of African ancestry as well.

Scatter plot shows cutaneous squamous cell carcinoma prevalence by genetic ancestry in GERA cohort; axes reflect first 2 principal components of ancestry.

In this study, the researchers examined records of 11,396 people with cutaneous squamous cell carcinoma and 86,186 control subjects in the GERA cohort and found widely varying risk by race or ethnicity group: 14% for non-Hispanic white people, compared with 3.5% for Latinos, 0.8% for East Asians, and 0.4% for African Americans.

The analysis went on to consider genetically predicted skin pigmentation, genetic risk factors for cutaneous squamous cell carcinoma, and a clinical marker for chronic sun exposure (actinic keratoses). This found that skin pigmentation accounts for a large amount of the difference within and between white people and Latinos, but not all of it. Sun exposure is also a major contributing factor.

For Latinos, the percentage of Northern European ancestry at one particular location in the genome (the SLC24A5 locus) was strongly correlated with cutaneous squamous cell carcinoma risk. The researchers also found that this risk could differ among Latinos, depending on which version of a genetic variant they inherited at the SLC24A5 locus, which is known to influence skin pigmentation.

These findings suggest skin pigmentation alone may not be the primary determinant of cutaneous squamous cell carcinoma in Latinos, but rather the specific genetic factors underlying that pigmentation, said co-author Neil Risch, PhD, an adjunct investigator with DOR and the founding director of the Institute for Human Genetics at the University of California, San Francisco.

This is a striking example of a health disparity due largely to genetics, Risch said. The GERA cohort had limited numbers of East Asian and African American patients with cutaneous squamous cell carcinoma so we could not do a deep genetic analysis in this study but future research should explore these populations to better understand the role of their genetics and environmental exposures. For example, East Asians, who also have fair skin, appear to be strongly protected from the same skin cancer.

Lifestyle factors such as sun exposure, use of sunscreen, and smoking also affect skin cancer risk, as does immunosuppression and use of certain medications.

For clinicians, the research is a reminder that our patients of Latino ethnicity, particularly those with a lighter skin phenotype, are at risk for skin cancer, and would benefit from increased awareness, education, and skin cancer screening initiatives, said senior author Maryam Asgari, MD, MPH, an adjunct investigator with DOR, associate dermatologist at Massachusetts General Hospital, and professor of dermatology and population medicine at Harvard Medical School.

The study was funded by various grants from the National Institutes of Health.

Co-authors also included co-lead author Eric Jorgensen, PhD, a former DOR research scientist; Jie Yin and Catherine Schaefer, PhD, of DOR; and Thomas J. Hoffmann, PhD, Yambazi Banda, PhD, and Mark N. Kvale, PhD, of the UCSF Institute for Human Genetics.

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Unique genetic factors and ancestry, along with lifestyle, influence skin cancer risk - Kaiser Permanente Division of Research

This is part of a four-part series exploring the four facets of the ProShares MSCI Transformational Changes ETF (NYSEARCA:ANEW) ETF: The Future of Work, Genomics and Telehealth, the Digital Consumer and the Food Revolution. Click on other themes where linked to read other installments.

Healthcare has come a long way over the course of human history, but this may be one of the most exciting times in the sector and theProShares MSCI Transformational Changes ETF (NYSEARCA:ANEW) lets investors make their bet on those exciting developments.

Some of these changes are highly technical in nature. For instance, genomics combines our increasingly deep and complex knowledge of human biology with the sheer data-crunching power of technological advances to enable us to understand how a persons genes work and to use that to heal them.

Others are a lot closer to home. The Covid-19 pandemic has made traveling to the doctors office even more awkward and troublesome than before.As taken from ProShares information on the ANEW ETF, According to an April 2020 Harris Poll, 32% of Americans have used telehealth services, doubling since before the outbreak. The shift to telehealth may endure. Indeed, a May 2020 McKinsey & Company study stated that up to $250 billion of current U.S. healthcare spending could potentially be virtualized post-pandemic.

And thats not all. From targeted therapeutics to molecular diagnostics, ANEW digs deep into the cutting edge of the healthcare sector and pulls some of its best prospects together into one fund for investors.

The fund charges an 0.45% expense ratio, or $45 per $10,000 invested annually.

I had a chance to discuss the ANEW ETF with Scott Helfstein, Executive Director of Thematic Investing for ProShares, and talk about how ANEW is letting investors get in on cutting-edge medical advancements.

InvestorPlace: Gene editing can sound scary to some people, but its a market that continues to grow gene editing is expected to grow at a CAGR of 16.6% through 2027, to reach $6.6 billion. What are some of the use cases for this therapy investors might be more familiar with?

Scott Helfstein, Executive Director of Thematic Investing for ProShares: The search for a COVID-19 vaccine is one very salient example right now. Leading vaccine candidates from Moderna (NASDAQ:MRNA) and Pfizer (NYSE:PFE)/Biontech (NASDAQ:BNTX), and other companies use genetic therapy through messenger RNA that essentially delivers photocopied blueprints. This is remarkable, representing a possible turning point in medicine and potentially the first time that genetic medicine is administered at mass scale. The technology could someday be adapted to teach the body to fight off a range of pathogens from cancer to HIV.

The COVID gene-based vaccines are specific sections or strands of genetic code manipulated to include instructions for the human body to produce antibodies capable of fighting off the virus. The vaccine does not edit peoples DNA, an individuals unique code, but uses genetic material as a delivery mechanism. Teaching the body to fight off disease directly by offering instructions at a genetic level is different than using medicine that directly attacks the pathogen or exposes the body to produce an immune response. Companies in ANEW such as Moderna and Novavax (NASDAQ:NVAX) have been exploring mRNA treatment for other areas as well.

There are few examples where treatment focuses on editing underlying human DNA or an individuals core genetic code, but this is still early in development. In 2019, a doctor in China introduced a genetic treatment to human embryos aiming to make twin girls immune to HIV. While this may sound like science fiction, there is a strong possibility that doctors will be able to actually cut out genetic code associated with diseases, perhaps even degenerative diseases like Alzheimers, and replace those genes with healthy code. This type of direct manipulation could play an important role in preventative treatment with companies like CRISPR (NASDAQ:CRSP), Invitae (NYSE:NVTA), and Editas (NASDAQ:EDIT) leading the way.

InvestorPlace: Telehealth has become a vital component of the current healthcare landscape. Obviously the Covid-19 pandemic impacted that transition, but what do you see as the future of this space? What are the companies that stand to particularly benefit?

ProShares:The adoption of Telemedicine is an excellent example of a transformational change in motion before the pandemic that has been accelerated by COVID-19. Can you imagine people actually heading back to their doctors to sit in crowded waiting rooms in future flu seasons? McKinsey reports that in 2019, 11% of U.S. consumers reported use of Telemedicine or Virtual Care services. More recently, 76% of respondents say they are moderately or highly likely to use telehealth going forward

The interesting part is that technology to support telehealth has been in place for years. There were two impediments prior to the pandemic, and COVID appears to have mowed them over. The first is related to policies around reimbursement, as both government and private insurance were not sure how to treat telemedicine. The second was doctor and patient behavior, with both hesitant to take the relationship online. Both of those impediments are may be a thing of the past.

With widespread adoption of video conference for activities from work to family holidays and happy hours, much of the U.S. population has gotten comfortable with communication technology. Telehealth can improve efficiency in healthcare. Teladoc (NYSE:TDOC) has been one beneficiary of the shift to telehealth. The company recently raised its guidance to project 2020 earnings of almost $100 millionmore than triple 2019s results.Medical device makers, such as Abbott Laboratories (NYSE:ABT), that provide instruments continuously monitoring patients are integral to meeting the demand for remote care, as well.

InvestorPlace: Data is vital to healthcare, and big data advances are helping grow the world of genomics. What are some of the leaders in the space, and what does the growth ramp for that area look like?

ProShares:Advances in biotechnology and genomics are in large part due to innovations in data analysis as well as biology. That cannot be overstated. The human genome consists of 20,000 pairs of amino acids, which would amount to a stack of 8.5 x 11 paper that was 200 feet tall. That is a twenty-story building. Biological science plays an important part, but analyzing these massive datasets is critical as well. That is just one example of data in medicine, and not even the low-hanging fruit.

Improving data access, quality, and analytics could help build a more efficient healthcare system from hospitals to individual medical practices. The healthcare industry is estimated to produce 5% of world data, but sector remains one of the least digitized. There is tremendous opportunity to leverage data for supply chain management, imaging, medical alerts, predictive analytics, new therapies, and process optimization. Veeva Systems (NYSE:VEEV), for example, is a cloud-based platform that attempts to streamline data access. IBM has also focused the Watson artificial system on cancer diagnosis. The computer is capable of reading more scans than any doctor can ever see in the course of their lifetimes, and the computer can identify or infer patterns that would otherwise be impossible for humans, hopefully then increasing the diagnostic accuracy.

InvestorPlace: The growth of targeted therapeutics is allowing for better cancer treatments with fewer adverse effects, as compared to typical treatments like chemotherapy and surgery. Do you see more companies breaking into the space? And how far do you expect the sector to expand?

ProShares:Targeted therapeutics or treatments customized based on both patient and disease characteristics, as you note, are increasingly common in cancer treatment. The idea is that targeted or personalized treatment will more effectively address a harmful disease specifically as opposed to traditional therapies targeting all rapidly reproducing cells. An increased emphasis on personalized medicine, which is critically reliant on data analysis, offers the possibility of better patient outcomes delivered more efficiently at lower cost. This is another area in healthcare we believe is still in early stages with significant growth ahead.

There are two main considerations. First, the treatment can be developed to have an optimal impact on diseased tissue while limiting the impact on the rest of the body. Second, drug development should be faster and cheaper since treatments need not be effective or even safe for all people provided they are only administered to those patients most likely to respond well. That could translate to billions in drug development savings. Quark is an interesting example of a company pushing the limits in the field.

InvestorPlace: Molecular diagnostics tests have supplanted a number of traditional testing methods, and have increased accuracy and speed of diagnoses. Can you discuss that?

ProShares:Its startling to hear the term rapid PCR test enter the mainstream media, but this reflects the importance molecular diagnostics which uses genomic scienceto testing for an illness as challenging as COVID-19.

Several hundred diagnostics have been submitted to the World Health Organization for the identification of the novel coronavirus, but only a few dozen of these have been approved for use by major healthcare authorities. Companies like Abbott Laboratories and Roche Diagnostics have seen their tests approved for use in several countries. A smaller company like Twist Bioscience (NASDAQ:TWST) is another example of an innovator in the field.

InvestorPlace: This intersection of science, tech and healthcare is of growing interest to investors. Which subsections and companies should investors be the most excited about in the next 3-5 years?

ProShares:There is a reasonable possibility that we are at the rebirth of healthcare along the lines of Hippocrates or Galen. A decade from now, we may look back and see medicine of late 20thcentury as the dark ages. The combination of genomic technology, diagnostic data, and targeted therapeutics, all powered by advanced data analysis, opens the possibility of preventive medicine and minimally invasive treatment while optimizing patient outcomes. There is a lot to be excited about based on market size and the time to deployment.

Genomics is really fascinating, and maybe a little scary. Delivery of treatment through genetic material like the some of the COVID vaccines as well as human gene editing hold tremendous potential. Companies like Moderna and Novavax have already made great strides in possibly bringing genomic treatment mainstream. COVID accelerated this transition. Editing the human genome is still in early stages but offers the possibility of treating diseases once thought almost incurable. Gene editing companies CRISPR, Editas, and Invitae hold some of the most valuable patents in the field.

On the date of publication, Jessica Loder did not have (either directly or indirectly) any positions in the securities mentioned in this article.

In The InvestorPlace Q&A, weinvite a manager to speak directly to Main Street investors, whether discussing their firms technologies, strategies or investments for the year ahead. Our goal is to put the spotlight on fund managers and other institutional investors of note, providing a detailed look into their management styles, world views and investing strategies.Read past interviews here.

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The InvestorPlace Q&A: Genomics, Telehealth and the Future of Healthcare with the ANEW ETF - InvestorPlace

Locanabio, a San Diego gene therapy company focused on treatments for severe neurodegenerative diseases such as Huntingtons and Lou Gehrigs disease, has raised $100 million in a second round of venture capital funding.

The Torrey Pines Mesa company will use the money for further pre-clinical and clinical development of its proprietary RNA-targeting system to fight degenerative diseases including myotonic dystrophy type 1 and retinal disease, along with Huntingtons and genetic ALS.

Locanabios approach is to combine two methods for treating diseases gene therapy and RNA modification. The platform consists of several RNA-targeting systems that are combined with gene therapy delivery to modify dysfunctional RNA.

The capabilities of the platform could allow Locanabio to develop treatments for a wide range of genetic diseases beyond those on its current roadmap.

This financing positions us to accelerate our efforts to advance multiple promising programs into (new drug) studies in 2021 and to further develop our novel RNA-targeting platform, which has the potential to be a major new advance in medicine that can bring hope to patients with many devastating genetic diseases, said Chief Executive Jim Burns in a statement.

Burns joined Locanabio in December 2019 from Casebia, where he served as the chief executive and led the team in developing CRISPR-based therapeutics to treat blood disorders, blindness and heart disease. Before that, he spent the bulk of his career at Sanofi-Genzyme, where he held several leadership roles.

This latest financing was led by Vida Ventures. Other new investors participating include RA Capital Management, Invus, Acuta Capital Partners and an investment fund associated with SVB Leerink.

Prior investors ARCH Venture Partners, Temasek, Lightstone Ventures, UCB Ventures and Google Ventures also participated. Lonanabio previously raised $55 million in May 2019.

As part of the funding round, Rajul Jain, a medical doctor and director of Vida Ventures, will join Locanabios board of directors.

The unique approach in RNA targeting using gene therapy to deliver RNA binding proteins developed by Locanabio represents the next frontier of genetic medicine with the ability to target the root cause of a range of genetic diseases, said Jain in a statement. They have built a strong management team to execute this bold vision, and we are proud to support them.

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San Diego's Locanabio raises $100 million for treatments aimed at degenerative diseases - The San Diego Union-Tribune

SAN FRANCISCO, Dec. 9, 2020 /PRNewswire/ --Invitae (NYSE: NVTA), a leading medical genetics company, today announced three studies demonstrating the benefits of genetic testing for all breast cancer patients, impacting treatment decisions and cancer screening for patients and their families. The studies, which will be presented at the 2020 San Antonio Breast Cancer Symposium (SABCS), add to the evidence supporting universal access to genetic information for all breast cancer patients.

"It's clear that current guidelines are too restrictive and, as a result, many patients with breast cancer whose care could be improved by access to precision medicine approaches are being missed. Universal testing for all patients with solid tumor cancer, including breast cancer, can help inform treatment and improve outcomes for patients," said Robert Nussbaum, M.D., chief medical officer of Invitae. "These data, taken together with many other studies that demonstrate the utility of universal testing for cancer patients, show the time has come to expand testing guidelines to ensure all breast cancer patients and their families can benefit from incorporating genetic information into their care."

In a prospective, multi-center study of breast cancer patients, one in eight patients had inherited genetic variants that could increase their risk of more aggressive disease and inform treatment choices. Despite the patients having inherited genetic variants, testing rates among patients' families remained low, even when cost was not a barrier. These findings in breast cancer patients were part of a landmark study across various solid tumor cancers recently published in JAMA Oncology.

Findings of a second study at the meeting underscore the impact germline testing can have on patient outcomes. In the longitudinal study, researchers evaluated the clinical outcomes of breast cancer patients who had undergone testing as part of a registry that included patients who met testing criteria and those who did not. Notably, 60% of patients who received targeted chemotherapy based on germline variants were in the group that did not meet testing criteria, highlighting the possibility that certain beneficial treatments and management changes could be inappropriately withheld from patients if restrictive criteria persist.

The third study at the meeting examined select international germline genetic testing criteria from Canada, Australia and the United Kingdom, and its impact on limiting access to testing in patients and their families who may benefit from this information. The study applied the international testing criteria to a cohort of previously tested U.S. breast cancer patients and found that more than 70% of patients with pathogenic variants would have been excluded using current guidelines to allocate germline testing. Furthermore, >80% of the pathogenic variants detected in these out-of-criteria patients were in genes with published management guidelines. This study demonstrates that current international guidelines for genetic testing are overly restrictive and miss actionable findings that could benefit breast cancer patients and their families.

Invitae presentations at 2020 SABCS:

Poster Session 8: Wednesday, December 9 at 8:00 a.m. CT

Spotlight Poster Discussion 10: Friday, December 11, 2020 at 1:00 p.m. CT

About InvitaeInvitae Corporation(NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the implications of the studies to be presented at the symposium; the utility of universal access to genetic testing; the impact of germline testing on patient outcomes; the importance of expanding genetic testing guidelines; and the benefits of genetic testing and information. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2020. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://www.invitae.com

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Invitae to Present New Data Supporting Genetic Testing for All Breast Cancer Patients at the 2020 San Antonio Breast Cancer Symposium - PRNewswire

Victoria Gray (second from left) with children Jamarius Wash, Jadasia Wash and Jaden Wash. Now that the gene-editing treatment has eased Gray's pain, she has been able be more active in her kids' lives and looks forward to the future. "This is really a life-changer for me," she says. Victoria Gray hide caption

Victoria Gray (second from left) with children Jamarius Wash, Jadasia Wash and Jaden Wash. Now that the gene-editing treatment has eased Gray's pain, she has been able be more active in her kids' lives and looks forward to the future. "This is really a life-changer for me," she says.

The last thing a lot of people want to do these days is get on a plane. But even a pandemic would not stop Victoria Gray. She jumped at the chance to head to the airport this summer.

"It was one of those things I was waiting to get a chance to do," says Gray.

She had never flown before because she was born with sickle cell disease. She feared the altitude change might trigger one of the worst complications of the devastating genetic disease a sudden attack of excruciating pain.

But Gray is the first person in the United States to be successfully treated for a genetic disorder with the help of CRISPR, a revolutionary gene-editing technique that makes it much easier to make very precise changes in DNA.

About a year after getting the treatment, it was working so well that Gray felt comfortable flying for the first time. She went to Washington, D.C., to visit her husband, who has been away for months on deployment with the National Guard.

"It was exciting. I had a window. And I got to look out the window and see the clouds and everything," says Gray, 35, of Forest, Miss.

Gray wore a mask the whole time to protect herself against the coronavirus, kept her distance from other people at the airport, and arrived happily in Washington, D.C., even though she's afraid of heights.

"I didn't hyperventilate like I thought I would," Gray says, laughing as she recounts the adventure in an interview with NPR.

NPR has had exclusive access to follow Gray through her experience since she underwent the landmark treatment on July 2, 2019. Since the last time NPR checked in with Gray in June, she has continued to improve. Researchers have become increasingly confident that the approach is safe, working for her and will continue to work. Moreover, they are becoming far more encouraged that her case is far from a fluke.

At a recent meeting of the American Society for Hematology, researchers reported the latest results from the first 10 patients treated via the technique in a research study, including Gray, two other sickle cell patients and seven patients with a related blood disorder, beta thalassemia. The patients now have been followed for between three and 18 months.

All the patients appear to have responded well. The only side effects have been from the intense chemotherapy they've had to undergo before getting the billions of edited cells infused into their bodies.

The New England Journal of Medicine published online this month the first peer-reviewed research paper from the study, focusing on Gray and the first beta thalassemia patient who was treated.

"I'm very excited to see these results," says Jennifer Doudna of the University of California, Berkeley, who shared the Nobel Prize this year for her role in the development of CRISPR. "Patients appear to be cured of their disease, which is simply remarkable."

Another nine patients have also been treated, according to CRISPR Therapeutics in Cambridge, Mass., and Vertex Pharmaceuticals in Boston, two companies sponsoring the research. Those individuals haven't been followed long enough to report any results, officials say.

But the results from the first 10 patients "represent an important scientific and medical milestone," says Dr. David Altshuler, Vertex's chief scientific officer.

The treatment boosted levels of a protein in the study subjects' blood known as fetal hemoglobin. The scientists believe that protein is compensating for defective adult hemoglobin that their bodies produce because of a genetic defect they were born with. Hemoglobin is necessary for red blood cells to carry oxygen.

Analyses of samples of bone marrow cells from Gray six months after getting the treatment, then again six months later, showed the gene-edited cells had persisted the full year a promising indication that the approach has permanently altered her DNA and could last a lifetime.

"This gives us great confidence that this can be a one-time therapy that can be a cure for life," says Samarth Kulkarni, the CEO of CRISPR Therapeutics.

Gray and the two other sickle cell patients haven't had any complications from their disease since getting the treatment, including any pain attacks or hospitalizations. Gray has also been able to wean off the powerful pain medications she'd needed most of her life.

Prior to the treatment, Gray experienced an average of seven such episodes every year. Similarly, the beta thalassemia patients haven't needed the regular blood transfusions that had been required to keep them alive.

"It is a big deal because we we able to prove that we can edit human cells and we can infuse them safely into patients and it totally changed their life," says Dr. Haydar Frangoul at the Sarah Cannon Research Institute in Nashville. Frangoul is Gray's doctor and is helping run the study.

For the treatment, doctors remove stem cells from the patients' bone marrow and use CRISPR to edit a gene in the cells, activating the production of fetal hemoglobin. That protein is produced by fetuses in the womb but usually shuts off shortly after birth.

The patients then undergo a grueling round of chemotherapy to destroy most of their bone marrow to make room for the gene-edited cells, billions of which are then infused into their bodies.

"It is opening the door for us to show that this therapy can not only be used in sickle cell and thalassemia but potentially can be used in other disorders," Frangoul says.

Doctors have already started trying to use CRISPR to treat cancer and to restore vision to people blinded by a genetic disease. They hope to try it for many other diseases as well, including heart disease and AIDS.

The researchers stress that they will have to follow Gray and many other patients for a lot longer to be sure the treatment is safe and that it keeps working. But they are optimistic it will.

Gray hopes so too.

"It's amazing," she says. "It's better than I could have imagined. I feel like I can do what I want now."

The last year hasn't always been easy for Gray, though. Like millions of other Americans, she has been sheltering at home with three of her children, worrying about keeping them safe and helping them learn from home much of the time.

"I'm trying to do the things I need to do while watch them at the same time to make sure they're doing the things they need to do," Gray says. "It's been a tough task."

But she has been able do other things she never got to do before, such as watch her oldest son's football games and see her daughter cheerleading.

"This is really a life-changer for me," she says. "It's magnificent."

She's now looking forward to going back to school herself, learning to swim, traveling more when the pandemic finally ends, and watching her children grow up without them worrying about their mother dying.

"I want to see them graduate high school and be able to take them to move into dorms in college. And I want to be there for their weddings just everything that the normal people get to do in life. I want to be able to do those things with my kids," she says. "I can look forward now to having grandkids one day being a grandmama."

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1st Patients To Get CRISPR Gene-Editing Treatment Continue To Thrive - NPR

By Bio-IT World Staff

December 10, 2020 | The All of Us Research Program has begun to return genetic results to participants who have donated biosamples for research, NIH announced. The program prioritizes information return to its research volunteers. Initially, participants can choose to receive information about their genetic ancestry and traits, with health-related results available at a later date.

The All of Us Research Program is working to build a diverse community of 1 million or more participant partners across the U.S. to help researchers learn more about how genetics, environment and lifestyle factors affect health outcomes. So far, more than 270,000 people have contributed biosamples and more than 80% come from communities that are historically underrepresented in biomedical research. These include racial and ethnic minorities, sexual and gender minorities, and other groups.

Participants can also share data via surveys and their electronic health records. Data are stripped of personal identifiers and made available for research through the All of Us Research Hub.

As part of its core values, the program is committed to ensuring that participants have access to their own information, and many participants have expressed a strong desire to understand what their DNA can tell them.

Were changing the paradigm for research, said Josh Denny, M.D., All of Uss chief executive officer, in the announcement. Participants are our most important partners in this effort, and we know many of them are eager to get their genetic results and learn about the science theyre making possible. Were working to provide that valuable information in a responsible way.

The program's in-depth genetic analyses include both whole genome sequencing and genotyping. To return genetic information, the program has developed a robust informed consent process, giving participants information and choice about whether or not to receive results and which results they want to get back. The program also provides access to genetic counselors to help answer questions from participants and their health care providers.

All of Us teamed up with a network of awardees across the country to support this work, including the health technology company Color (Color received an initial $4.6 million in funding in August 2019) and a set of leading genome centers: Baylor College of Medicine, the Broad Institute and the Northwest Genomics Center at the University of Washington, with their partners.

With the All of Us Research Program, were beginning to return results for a genomics program that is of unprecedented scale, said Alicia Zhou, Ph.D., chief science officer at Color. For a long time, the research community has recruited participants into large-population genomics studies without returning any results back to them. With All of Us, weve provided the tools to do just thatin a convenient and accessible way. We now have a real opportunity to return value to participants.

All of Us is taking a phased approach to the return of genetic results and will offer additional results over time. In about a year, the program plans to begin offering participants the option to receive information about how their DNA may affect their bodys response to certain types of medicines (pharmacogenetics), and about genetic variants associated with the increased risk of certain diseases, based on guidelines of the American College of Medical Genetic and Genomics. Participants will receive information back as their DNA samples are processed, so not everyone will receive information immediately.

We need programs like All of Us to build diverse datasets so that research findings ultimately benefit everyone, said Brad Ozenberger, Ph.D., All of Uss genomics director. Too many groups have been left out of research in the past, so much of what we know about genomics is based mainly on people of European ancestry. And often, genomic data are explored without critical context like environment, economics and other social determinants of health. Were trying to help change that, enabling the entire research community to help fill in these knowledge gaps.

All of Us plans to begin making genetic data available to researchers in about a year, with strict privacy and security safeguards in place to protect participants information. The program seeks to engage researchers from diverse backgrounds to undertake a wide range of studies and learn more about how to tailor care to peoples different needs.

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All of Us Returns First Genetic Results To Participants - Bio-IT World

BURLINGTON, Mass. and NASHVILLE, Tenn., Dec. 10, 2020 /PRNewswire/ --Concert Genetics and Trapelo Health announced today that they have partnered to provide a streamlined, integrated solution that will expand access to evidence-based, genomic-informed oncology decision support.

The partnership is built on a shared mission to improve connectivity, transparency, and alignment among the healthcare stakeholders that support the delivery of oncology care. It combines the unique strengths of the two organizations: Concert's genetic testing data and digital infrastructure and Trapelo's expertise in molecular oncology decision support.

For an in-depth interview with leadership from both companies listen to this episode of the Precision Medicine Podcast.

For Concert's health plan customers, the joint solution will expand access to Trapelo's unique decision-support capabilities, which are built on a continuously updated knowledgebase of curated evidence that is used to inform molecular testing, treatment decisions and clinical trial recommendations.Offering this solution through Concert's ecosystem of data integrations, customers, and users will improve transparency and accountability in the most complex and dynamic aspects of molecular oncology,providing health plans the information they need to support evidence-based care decisions.

This partnership comes at a time when precision oncology care is rapidly advancing, bringing both new treatments and increased complexities to patient care. In the first six months of 2020, the U.S. Food and Drug Administration approved 21 precision oncology drugs, exceeding its total for all of 2019.1 A 2018 report from The Pharmaceutical Research and Manufacturers of America showed more than 1,100 oncology drugs in development with most requiring the use of molecular testing.2 These advances underscore the urgent need for clinical support solutions that can be deployed now.

"Achieving the promise of precision medicine requires bringing exactly the right data to bearat the moment of truth, when diagnosis is determined and treatment decisions are made," said Rob Metcalf, CEO of Concert Genetics. "Together, Concert and Trapelo can improve the quality and clarity of information available at that moment for the benefit of all stakeholders, especially the patient."

"This partnership enables a first-of-its-kind approach to managing the growing complexities precision oncology," said Clynt Taylor, CEO of Trapelo Health. "An increasing number of treatment decisions require both familial and somatic testing. Our collaboration gives stakeholders the resources and expertise to effectively manage genomic-informed decision making in the new age of cancer care."

Concert Genetics is a software and managed services company that promotes health by providing the digital infrastructure for reliable and efficient management of genetic testing and precision medicine. Concert's genetic testing management capabilities leverage a proprietary database of the U.S. clinical genetic testing market, market-leading expertise, and a technology platform that supports genetic test ordering, resulting, coding, coverage, and payment integrity.

Trapelo Healthis an information technology company on a mission to address the challenges that result from rapid changes in the science, technology and business of next-generation cancer care. Its product, Trapelo, is a win-win solution for doctors, labs and payers that need real-time, evidence-based information and full transparency to make patient-based decisions faster. As part of this commitment, Trapelo is the lead sponsor of The Precision Medicine Podcasta media platform that brings together industry leaders to help accelerate the effective use of precision medicine for cancer care. Tune in and follow us on Twitter @PMPbyTrapelo and on Linked-in.

Media Contacts:Nick Tazik, Vice President Growth, Concert Geneticsntazik@concertgenetics.com, (615) 861.2634

Karan Cushman, Chief Marketing Officer, Trapelo Healthkcushman@trapelohealth.com, (617) 250.7572

1Ray, T. (2020, July 11). FDA Approves Record Number of Precision Oncology Drugs in H1 2020. Precision Oncology News. https://www.precisiononcologynews.com/cancer/fda-approves-record-number-precision-oncology-drugs-h1-2020#.X8-T4BNKjly2 List of 2018 Medicines in Development for Cancer. (2020, May 30). PhRMA. https://www.phrma.org/report/list-of-2018-medicines-in-development-for-cancer

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Concert Genetics and Trapelo Health Partner to Advance Molecular Oncology Decision Support - BioSpace