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gene, unit of hereditary information that occupies a fixed position (locus) on a chromosome. Genes achieve their effects by directing the synthesis of proteins.

In eukaryotes (such as animals, plants, and fungi), genes are contained within the cell nucleus. The mitochondria (in animals) and the chloroplasts (in plants) also contain small subsets of genes distinct from the genes found in the nucleus. In prokaryotes (organisms lacking a distinct nucleus, such as bacteria), genes are contained in a single chromosome that is free-floating in the cell cytoplasm. Many bacteria also contain plasmidsextrachromosomal genetic elements with a small number of genes.

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heredity: Chromosomes and genes

Find out what an organism is and consider which one is the world's smallest

Learn what defines an organism and consider two candidates for the title of world's smallest organismthe bacteria Carsonella ruddii and Mycoplasma genitalium.(more)

The number of genes in an organisms genome (the entire set of chromosomes) varies significantly between species. For example, whereas the human genome contains an estimated 20,000 to 25,000 genes, the genome of the bacterium Escherichia coli O157:H7 houses precisely 5,416 genes. Arabidopsis thalianathe first plant for which a complete genomic sequence was recoveredhas roughly 25,500 genes; its genome is one of the smallest known to plants. Among extant independently replicating organisms, the bacterium Mycoplasma genitalium has the fewest number of genes, just 517.

A brief treatment of genes follows. For full treatment, see heredity.

Genes are composed of deoxyribonucleic acid (DNA), except in some viruses, which have genes consisting of a closely related compound called ribonucleic acid (RNA). A DNA molecule is composed of two chains of nucleotides that wind about each other to resemble a twisted ladder. The sides of the ladder are made up of sugars and phosphates, and the rungs are formed by bonded pairs of nitrogenous bases. These bases are adenine (A), guanine (G), cytosine (C), and thymine (T). An A on one chain bonds to a T on the other (thus forming an AT ladder rung); similarly, a C on one chain bonds to a G on the other. If the bonds between the bases are broken, the two chains unwind, and free nucleotides within the cell attach themselves to the exposed bases of the now-separated chains. The free nucleotides line up along each chain according to the base-pairing ruleA bonds to T, C bonds to G. This process results in the creation of two identical DNA molecules from one original and is the method by which hereditary information is passed from one generation of cells to the next.

The sequence of bases along a strand of DNA determines the genetic code. When the product of a particular gene is needed, the portion of the DNA molecule that contains that gene will split. Through the process of transcription, a strand of RNA with bases complementary to those of the gene is created from the free nucleotides in the cell. (RNA has the base uracil [U] instead of thymine, so A and U form base pairs during RNA synthesis.) This single chain of RNA, called messenger RNA (mRNA), then passes to the organelles called ribosomes, where the process of translation, or protein synthesis, takes place. During translation, a second type of RNA, transfer RNA (tRNA), matches up the nucleotides on mRNA with specific amino acids. Each set of three nucleotides codes for one amino acid. The series of amino acids built according to the sequence of nucleotides forms a polypeptide chain; all proteins are made from one or more linked polypeptide chains.

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Experiments conducted in the 1940s indicated one gene being responsible for the assembly of one enzyme, or one polypeptide chain. This is known as the one geneone enzyme hypothesis. However, since this discovery, it has been realized that not all genes encode an enzyme and that some enzymes are made up of several short polypeptides encoded by two or more genes.

Experiments have shown that many of the genes within the cells of organisms are inactive much or even all of the time. Thus, at any time, in both eukaryotes and prokaryotes, it seems that a gene can be switched on or off. The regulation of genes between eukaryotes and prokaryotes differs in important ways.

The process by which genes are activated and deactivated in bacteria is well characterized. Bacteria have three types of genes: structural, operator, and regulator. Structural genes code for the synthesis of specific polypeptides. Operator genes contain the code necessary to begin the process of transcribing the DNA message of one or more structural genes into mRNA. Thus, structural genes are linked to an operator gene in a functional unit called an operon. Ultimately, the activity of the operon is controlled by a regulator gene, which produces a small protein molecule called a repressor. The repressor binds to the operator gene and prevents it from initiating the synthesis of the protein called for by the operon. The presence or absence of certain repressor molecules determines whether the operon is off or on. As mentioned, this model applies to bacteria.

The genes of eukaryotes, which do not have operons, are regulated independently. The series of events associated with gene expression in higher organisms involves multiple levels of regulation and is often influenced by the presence or absence of molecules called transcription factors. These factors influence the fundamental level of gene control, which is the rate of transcription, and may function as activators or enhancers. Specific transcription factors regulate the production of RNA from genes at certain times and in certain types of cells. Transcription factors often bind to the promoter, or regulatory region, found in the genes of higher organisms. Following transcription, introns (noncoding nucleotide sequences) are excised from the primary transcript through processes known as editing and splicing. The result of these processes is a functional strand of mRNA. For most genes this is a routine step in the production of mRNA, but in some genes there are multiple ways to splice the primary transcript, resulting in different mRNAs, which in turn result in different proteins. Some genes also are controlled at the translational and posttranslational levels.

Mutations occur when the number or order of bases in a gene is disrupted. Nucleotides can be deleted, doubled, rearranged, or replaced, each alteration having a particular effect. Mutation generally has little or no effect, but, when it does alter an organism, the change may be lethal or cause disease. A beneficial mutation will rise in frequency within a population until it becomes the norm.

For more information on the influence of genetic mutations in humans and other organisms, see human genetic disease and evolution.

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Gene | Definition, Structure, Expression, & Facts | Britannica

Raha Kapoor's blue eyes remind fans of her great-grandfather, Raj Kapoor; here's what genetics says  IndiaTimes

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Raha Kapoor's blue eyes remind fans of her great-grandfather, Raj Kapoor; here's what genetics says - IndiaTimes

human genetics, study of the inheritance of characteristics by children from parents. Inheritance in humans does not differ in any fundamental way from that in other organisms.

The study of human heredity occupies a central position in genetics. Much of this interest stems from a basic desire to know who humans are and why they are as they are. At a more practical level, an understanding of human heredity is of critical importance in the prediction, diagnosis, and treatment of diseases that have a genetic component. The quest to determine the genetic basis of human health has given rise to the field of medical genetics. In general, medicine has given focus and purpose to human genetics, so the terms medical genetics and human genetics are often considered synonymous.

A new era in cytogenetics, the field of investigation concerned with studies of the chromosomes, began in 1956 with the discovery by Jo Hin Tjio and Albert Levan that human somatic cells contain 23 pairs of chromosomes. Since that time the field has advanced with amazing rapidity and has demonstrated that human chromosome aberrations rank as major causes of fetal death and of tragic human diseases, many of which are accompanied by intellectual disability. Since the chromosomes can be delineated only during mitosis, it is necessary to examine material in which there are many dividing cells. This can usually be accomplished by culturing cells from the blood or skin, since only the bone marrow cells (not readily sampled except during serious bone marrow disease such as leukemia) have sufficient mitoses in the absence of artificial culture. After growth, the cells are fixed on slides and then stained with a variety of DNA-specific stains that permit the delineation and identification of the chromosomes. The Denver system of chromosome classification, established in 1959, identified the chromosomes by their length and the position of the centromeres. Since then the method has been improved by the use of special staining techniques that impart unique light and dark bands to each chromosome. These bands permit the identification of chromosomal regions that are duplicated, missing, or transposed to other chromosomes.

Micrographs showing the karyotypes (i.e., the physical appearance of the chromosome) of a male and a female have been produced. In a typical micrograph the 46 human chromosomes (the diploid number) are arranged in homologous pairs, each consisting of one maternally derived and one paternally derived member. The chromosomes are all numbered except for the X and the Y chromosomes, which are the sex chromosomes. In humans, as in all mammals, the normal female has two X chromosomes and the normal male has one X chromosome and one Y chromosome. The female is thus the homogametic sex, as all her gametes normally have one X chromosome. The male is heterogametic, as he produces two types of gametesone type containing an X chromosome and the other containing a Y chromosome. There is good evidence that the Y chromosome in humans, unlike that in Drosophila, is necessary (but not sufficient) for maleness.

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A human individual arises through the union of two cells, an egg from the mother and a sperm from the father. Human egg cells are barely visible to the naked eye. They are shed, usually one at a time, from the ovary into the oviducts (fallopian tubes), through which they pass into the uterus. Fertilization, the penetration of an egg by a sperm, occurs in the oviducts. This is the main event of sexual reproduction and determines the genetic constitution of the new individual.

Human sex determination is a genetic process that depends basically on the presence of the Y chromosome in the fertilized egg. This chromosome stimulates a change in the undifferentiated gonad into that of the male (a testicle). The gonadal action of the Y chromosome is mediated by a gene located near the centromere; this gene codes for the production of a cell surface molecule called the H-Y antigen. Further development of the anatomic structures, both internal and external, that are associated with maleness is controlled by hormones produced by the testicle. The sex of an individual can be thought of in three different contexts: chromosomal sex, gonadal sex, and anatomic sex. Discrepancies between these, especially the latter two, result in the development of individuals with ambiguous sex, often called hermaphrodites. Homosexuality is unrelated to the above sex-determining factors. It is of interest that in the absence of a male gonad (testicle) the internal and external sex anatomy is always female, even in the absence of a female ovary. A female without ovaries will, of course, be infertile and will not experience any of the female developmental changes normally associated with puberty. Such a female will often have Turner syndrome.

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If X-containing and Y-containing sperm are produced in equal numbers, then according to simple chance one would expect the sex ratio at conception (fertilization) to be half boys and half girls, or 1 : 1. Direct observation of sex ratios among newly fertilized human eggs is not yet feasible, and sex-ratio data are usually collected at the time of birth. In almost all human populations of newborns, there is a slight excess of males; about 106 boys are born for every100 girls. Throughout life, however, there is a slightly greater mortality of males; this slowly alters the sex ratio until, beyond the age of about 50 years, there is an excess of females. Studies indicate that male embryos suffer a relatively greater degree of prenatal mortality, so the sex ratio at conception might be expected to favour males even more than the 106 : 100 ratio observed at birth would suggest. Firm explanations for the apparent excess of male conceptions have not been established; it is possible that Y-containing sperm survive better within the female reproductive tract, or they may be a little more successful in reaching the egg in order to fertilize it. In any case, the sex differences are small, the statistical expectation for a boy (or girl) at any single birth still being close to one out of two.

During gestationthe period of nine months between fertilization and the birth of the infanta remarkable series of developmental changes occur. Through the process of mitosis, the total number of cells changes from 1 (the fertilized egg) to about 2 1011. In addition, these cells differentiate into hundreds of different types with specific functions (liver cells, nerve cells, muscle cells, etc.). A multitude of regulatory processes, both genetically and environmentally controlled, accomplish this differentiation. Elucidation of the exquisite timing of these processes remains one of the great challenges of human biology.

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Human genetics | Description, Chromosomes, & Inheritance

Cells are the bodys building blocks. Many different types of cells havedifferent functions. They make up all of your bodys organs and tissues. Nearlyevery cell in a persons body has the same deoxyribonucleic acid, or DNA. DNA isthe hereditary material in humans and almost all other organisms. Most DNA is located inthe cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also befound in the mitochondria (where it is called mitochondrial DNA).

DNA contains the code for building and maintaining an organism. The code is spelled outin the order, or sequence, of four chemical basesadenine (A), cytosine (C),guanine (G), and thymine (T)in the same way that letters of the alphabet cometogether to form words, sentences, and paragraphs. Human DNA consists of about threebillion bases, and more than 99 percent of those bases are the same in all people.

DNA bases pair with each otherA with T, C with Gto form units calledbase pairs. Each base is attached to a sugar molecule and a phosphate molecule.Together, base, sugar, and phosphate are called a nucleotide. Nucleotides are arrangedin two long strands that form a spiral called a double helix. The structure of thedouble helix is like a ladder, with base pairs running through the middle like rungs andsugar and phosphate molecules along the outside.

Genes are small sections of the long chain of DNA. They are the basic physical andfunctional units of heredity. In humans, genes vary in size from a few hundred DNA basesto more than two million bases. The Human Genome Project has estimated that humans havebetween 20,000 and 25,000 genes. Every person has two copies of each gene, one inheritedfrom each parent. Most genes are the same in all people, but a small number of genes(less than one percent of the total) are slightly different between people. Alleles areforms of the same gene with small differences in their sequence of DNA bases. Thesesmall differences contribute to each persons unique features.

Genes act as instructions to make molecules called proteins. To function correctly, eachcell depends on thousands of proteins to do their jobs in the right places at the righttimes. Sometimes changes in a gene, called mutations, prevent one or more of theseproteins from working properly. This may cause cells or organs to change or lose theirfunction, which can lead to a disease. Mutations, rather than genes themselves, causedisease. For example, when people say that someone has the cystic fibrosisgene, they are usually referring to a mutated version of the CFTR gene, whichcauses the disease. All people, including those without cystic fibrosis, have a versionof the CFTR gene.

Sections of DNA form genes, and many genes together form chromosomes. People inherit twosets of chromosomes (one from each parent), which is why every person has two copies ofeach gene. Humans have 23 pairs of chromosomes.

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BASIC GENETICS INFORMATION - Understanding Genetics - NCBI Bookshelf

Reviewed by James Langeland, Professor, Kalamazoo College on 1/30/23

Comprehensivenessrating:4see less

This text does what it claims to do. It provides an introductory overview of a broad swath of genetics.

Content Accuracyrating:4

No glaring errors. One could always nitpick any text book.

Relevance/Longevityrating:3

The text is relevant, but not particularly unique in any sense. One could find virtually the same information in any number of genetics textbooks, presented in largely the same way. A major problem here is that the filed is presented more or less historically with many of the experiments and concepts being described having little to no relevance to genetics today. This is a problem with many texts so I do not single this one out.

Clarityrating:4

As with many open source texts, this one suffers from substandard figures, which directly influences clarity. The words on the age are fine, but the adage is true-a picture can be worth a thousand words. The mainstream publishers spent a lot of money on figures and it shows--they can be really good.

Consistencyrating:4

No comments here.

Modularityrating:4

There seem to be appropriate and logical chapter and section breaks.

Organization/Structure/Flowrating:3

The flow is the same as nearly any other genetics textbook. It suffers from a rigid historical framework. Better than most at Muller's morphs however!

Interfacerating:5

No problems here. I do really like the integrated you tube links. I did not dive into the content of those videos (beyond the scope of my review), but the fact that they are there in abundance is a good use of the open source approach.

Grammatical Errorsrating:5

No problems here.

Cultural Relevancerating:3

No comment.

A very timely section on SARS-Cov-2 at the end! Rich with study questions and answers. Genetics is and should be very problem based, so this is good.I appreciate what is being offered here and I understand the market. There is nothing "wrong" with this textbook. There is also no wow factor that would cause me to adopt it at this time.

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Introduction to Genetics - Open Textbook Library

"When them genetics kick in its all over" - NBA fans send in rib-tickling reactions as LeBron James attends Zhuri James' volleyball game  Sportskeeda

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"When them genetics kick in its all over" - NBA fans send in rib-tickling reactions as LeBron James attends Zhuri James' volleyball game -...

David Liu, chemist: We now have the technology to correct misspellings in our DNA that cause known genetic diseases  EL PAS USA

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David Liu, chemist: We now have the technology to correct misspellings in our DNA that cause known genetic diseases - EL PAS USA

World Health Day 2023: Understanding the science of Epi-genetics and how to apply it in our daily lives  Free Press Journal

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World Health Day 2023: Understanding the science of Epi-genetics and how to apply it in our daily lives - Free Press Journal

Why do scientists study the genes of other organisms?

All living things evolved from a common ancestor. Therefore, humans, animals, and other organisms share many of the same genes, and the molecules made from them function in similar ways.

Scientists have found many genes that have been preserved through millions of years of evolution and are present in a range of organisms living today. They can study these preserved genes and compare the genomes of different species to uncover similarities and differences that improve their understanding of how human genes function and are controlled. This knowledge helps researchers develop new strategies to treat and prevent human disease. Scientists also study the genes of bacteria, viruses, and fungi for solutions to prevent or treat infection. Increasingly, these studies are offering insight into how microbes on and in the body affect our health, sometimes in beneficial ways.

Increasingly sophisticated tools and techniques are allowing NIGMS-funded scientists to ask more precise questions about the genetic basis of biology. For example, theyre studying the factors that control when genes are active, the mechanisms DNA uses to repair broken or damaged segments, and the complex ways traits are passed to future generations. Another focus of exploration involves tracing genetic variation over time to detail human evolutionary history and to pinpoint the emergence of disease-related attributes. These areas of basic research will continue to build a strong foundation for more disease-targeted studies.

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Genetics - National Institute of General Medical Sciences (NIGMS)

Almost every human trait and disease has a genetic component, whether inherited orinfluenced by behavioral factors such as exercise. Genetic components can also modifythe bodys response to environmental factors such as toxins. Understanding theunderlying concepts of human genetics and the role of genes, behavior, and theenvironment is important for appropriately collecting and applying genetic and genomicinformation and technologies during clinical care. It is important in improving diseasediagnosis and treatment as well. This chapter provides fundamental information aboutbasic genetics concepts, including cell structure, the molecular and biochemical basisof disease, major types of genetic disease, laws of inheritance, and the impact ofgenetic variation.

Cells are the fundamental structural and functional units of every known livingorganism. Instructions needed to direct activities are contained within a DNA(deoxyribonucleic acid) sequence. DNA from all organisms is made up of the samechemical units (bases) called adenine, thymine, guanine, and cytosine, abbreviatedas A, T, G, and C. In complementary DNA strands, A matches with T, and C with G, toform base pairs. The human genome (total composition of genetic material within acell) is packaged into larger units known as chromosomesphysically separatemolecules that range in length from about 50 to 250 million base pairs. Human cellscontain two sets of chromosomes, one set inherited from each parent. Each cellnormally contains 23 pairs of chromosomes, which consist of 22 autosomes (numbered 1through 22) and one pair of sex chromosomes (XX or XY). However, sperm and ovanormally contain half as much genetic material: only one copy of eachchromosome.

Each chromosome contains many genes, the basic physical and functional units ofheredity. Genes are specific sequences of bases that encode instructions for how tomake proteins. The DNA sequence is the particular side-by-side arrangement of basesalong the DNA strand (e.g., ATTCCGGA). Each gene has a unique DNA sequence. Genescomprise only about 29 percent of the human genome; the remainder consists ofnon-coding regions, whose functions may include providing chromosomal structuralintegrity and regulating where, when, and in what quantity proteins are made. Thehuman genome is estimated to contain 20,000 to 25,000 genes.

Although each cell contains a full complement of DNA, cells use genes selectively.For example, the genes active in a liver cell differ from the genes active in abrain cell because each cell performs different functions and, therefore, requiresdifferent proteins. Different genes can also be activated during development or inresponse to environmental stimuli such as an infection or stress.

Many, if not most, diseases are caused or influenced by genetics. Genes, through theproteins they encode, determine how efficiently foods and chemicals are metabolized,how effectively toxins are detoxified, and how vigorously infections are targeted.Genetic diseases can be categorized into three major groups: single-gene,chromosomal, and multifactorial.

Changes in the DNA sequence of single genes, also known as mutations, cause thousandsof diseases. A gene can mutate in many ways, resulting in an altered protein productthat is unable to perform its normal function. The most common gene mutationinvolves a change or misspelling in a single base in the DNA.Other mutations include the loss (deletion) or gain (duplication or insertion) of asingle or multiple base(s). The altered protein product may still retain some normalfunction, but at a reduced capacity. In other cases, the protein may be totallydisabled by the mutation or gain an entirely new, but damaging, function. Theoutcome of a particular mutation depends not only on how it alters aproteins function, but also on how vital that particular protein is tosurvival. Other mutations, called polymorphisms, are natural variations in DNAsequence that have no adverse effects and are simply differences amongindividuals.

In addition to mutations in single genes, genetic diseases can be caused by largermutations in chromosomes. Chromosomal abnormalities may result from either the totalnumber of chromosomes differing from the usual amount or the physical structure of achromosome differing from the usual structure. The most common type of chromosomalabnormality is known as aneuploidy, an abnormal number of chromosomes due to anextra or missing chromosome. A usual karyotype (complete chromosome set) contains 46chromosomes including an XX (female) or an XY (male) sex chromosome pair. Structuralchromosomal abnormalities include deletions, duplications, insertions, inversions,or translocations of a chromosome segment. (See Appendix F for more information aboutchromosomal abnormalities.)

Multifactorial diseases are caused by a complex combination of genetic, behavioral,and environmental factors. Examples of these conditions include spina bifida,diabetes, and heart disease. Although multifactorial diseases can recur in families,some mutations such as cancer can be acquired throughout an individualslifetime. All genes work in the context of environment and behavior. Alterations inbehavior or the environment such as diet, exercise, exposure to toxic agents, ormedications can all influence genetic traits.

The basic laws of inheritance are useful in understanding patterns of diseasetransmission. Single-gene diseases are usually inherited in one of several patterns,depending on the location of the gene (e.g., chromosomes 1-22 or X and Y) andwhether one or two normal copies of the gene are needed for normal protein activity.Five basic modes of inheritance for single-gene diseases exist: autosomal dominant,autosomal recessive, X-linked dominant, X-linked recessive, and mitochondria. (Seediagram on following page.)

All individuals are 99.9 percent the same genetically. The differences in thesequence of DNA among individuals, or genetic variation, explain some of thedifferences among people such as physical traits and higher or lower risk forcertain diseases. Mutations and polymorphisms are forms of genetic variation. Whilemutations are generally associated with disease and are relatively rare,polymorphisms are more frequent and their clinical significance is not asstraightforward. Single nucleotide polymorphisms (SNPs, pronouncedsnips) are DNA sequence variations that occur when a singlenucleotide is altered. SNPs occur every 100 to 300 bases along the 3 billion-basehuman genome. A single individual may carry millions of SNPs.

Although some genetic variations may cause or modify disease risk, other changes mayresult in no increased risk or a neutral presentation. For example, genetic variantsin a single gene account for the different blood types: A, B, AB, and O.Understanding the clinical significance of genetic variation is a complicatedprocess because of our limited knowledge of which genes are involved in a disease orcondition and the multiple gene-gene and gene-behavior-environment interactionslikely to be involved in complex, chronic diseases. New technologies are enablingfaster and more accurate detection of genetic variants in hundreds or thousands ofgenes in a single process.

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GENETICS 101 - Understanding Genetics - NCBI Bookshelf

People always think Im skinny because of good genetics theyre shocked when they see what I used to lo...  The US Sun

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People always think Im skinny because of good genetics theyre shocked when they see what I used to lo... - The US Sun

Forensics expert explains 'genetic genealogy' process believed to be used in Kohberger's arrest  KTVB.com

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Forensics expert explains 'genetic genealogy' process believed to be used in Kohberger's arrest - KTVB.com

Idaho student murders: What is genetic genealogy, a tool reportedly used to help capture the suspect?  FOX 10 News Phoenix

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Idaho student murders: What is genetic genealogy, a tool reportedly used to help capture the suspect? - FOX 10 News Phoenix

What is a Genetic Counselor and How Can They Help You Navigate Your Healthcare Journey?  ABC4.com

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What is a Genetic Counselor and How Can They Help You Navigate Your Healthcare Journey? - ABC4.com

A spoon of saffron derived from the flower of Crocus sativus. Photo: Salonik Saffron/Wikimedia Commons, CC BY-SA 4.0

Saffron, the worlds most expensive spice, is extracted from the flowers of the saffron crocus, Crocus sativus. It has been grown for thousands of years in the Mediterranean region. But when and where was saffron first domesticated by our ancestors? In a review in Frontiers in Plant Science, researchers conclude that lines of evidence from ancient art and genetics converge on the same region.

Both ancient artworks and genetics point to Bronze Age Greece, in approximately 1700 BC or earlier, as the origin of saffrons domestication, said Ludwig Mann, one of the leading authors and a PhD student at Technische Universitt Dresden, Germany.

The genus Crocus, with approximately 250 species, ranges from South and Central Europe and North Africa to Western China. Unlike domesticated saffron, these species reproduce sexually in the wild. The first known use by humans of wild crocuses was as pigment for cave paintings, approximately 50,000 years ago in todays Iraq. Ancient texts from Sumer, Assyria and Babylonia also describe the use of wild crocuses in medicine and dye.

Asexually propagated by humans

In contrast, domesticated saffron doesnt grow in the wild, and can only be propagated asexually with human help, by dividing its underground corms stem-like storage organs. The process was first described by the Greek philosopher Theophrastus in the fourth to third century BC.

Today, domesticated saffron is grown around the globe, for use in cooking and perfumes and as a yellow dye. Between 15,000 and 16,000 flowers, requiring between 370 and 470 person-hours to collect, yield a single kilo, worth between $1,300 and $10,000.

Finding out where and when saffron was first domesticated isnt straightforward: the species is difficult to study genetically, because it has three copies of every chromosome instead of the usual two, and a large genome containing a high percentage of difficult-to-sequence repetitive DNA, said leading author Seyyedeh-Sanam Kazemi-Shahandashti, a PhD student at the Institute of Bio- and Geosciences of the Forschungszentrum Jlich, Germany.

As there are no ancient crocus remains preserved from ancient times, we here revisit ancient artworks that depict saffron-like plants. We expected that these could point us to specific regions.

Two independent lines of evidence

The authors argue that artworks from the Minoan civilization of ancient Greece are likely the oldest to depict domesticated saffron. For example, the dense patches of crocus flowers on the fresco The Saffron Gatherers from the island of Santorini (approximately 1600 BC) suggest cultivation. Another fresco on the same island, The Adorants, shows flowers with long, dark-red stigmas which overtop dark violet petals, typical of domesticated saffron.

Flowers with these traits are also depicted on ceramics and cloth from Bronze Age Greece, and symbolically rendered in the ideogram for saffron in the ancient Linear B script. In Egypt, tombs from the 15th and 14th centuries BC depict how ambassadors from Crete brought tribute in the form of textiles dyed with saffron.

An origin in Bronze Age Greece agrees with results from genetic studies from 2019, which showed that C. cartwrightianus, which only occurs in mainland Greece and Crete, is saffrons closest wild relative.

The authors believe that the modern saffron crocus with its three genomes arose naturally from the wild, either exclusively from C. cartwrightianus or from hybrids between C. cartwrightianus and another crocus species. The saffron crocus would then have been retained by the Bronze Age Greeks because of its superior qualities as a spice.

The authors will continue to trace saffrons properties, said final author Tony Heitkam, leader of the plant genomics group at Technische Universitt Dresden: Around the globe today, all saffron crocuses are effectively clones dating back to saffrons emergence in ancient Greece. Nevertheless, despite sharing the same genome, saffron can have different properties depending on the region. We have started to investigate the molecular causes, in particular so-called epigenetic differences, for this regional variation.

This article was first published on the Frontiers news blog.

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Ancient Art and Genetics Reveal Origin of World's Most Expensive Spice - The Wire Science

SALT LAKE CITY, June 23, 2022 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced a partnership with Epic, the industry leading healthcare software company, to integrate Myriads full line of genetic tests with Epics expansive network of 600,000 physicians and more than 250 million patients.

The integration creates a seamless, end-to-end workflow solution for healthcare providers to order Myriad tests and review results directly within their everyday Epic platform without additional steps or manual ordering processes. Epic enables a secure exchange of information between healthcare institutions that care for patients.

With the ability to review pertinent health information, order tests, and receive results natively in Epic, providers will have the critical genetic insights and related information they need to drive better health outcomes and improve the patient experience. Patients will also be able to easily access their Myriad test results and other health information directly within their EHR portal.

Simplifying the process of genetic testing by making it more accessible and interoperable with electronic health records is a key component of our mission to advance health and well-being for all, said Paul J. Diaz, president and CEO, Myriad Genetics. Our collaboration with Epic reflects our strategy to partner with other healthcare industry leaders so we can advance precision medicine together. Increasing access to genetic insights and integrating our tests into Epics vast network of healthcare systems represents a significant step forward to better serve patients and healthcare providers.

As part of its transformation and growth plan, Myriad is focusing on new customer-centric, tech-enabled tools to make the genetic testing process easier for patients and clinicians. With the recent launch of Myriads Precise Oncology Solutions, providers can now place a single order for multiple Myriad tests and receive timely results through a unified online portal. Now, through the partnership with Epic, Myriad is expanding efforts to help physicians and health systems gain access to genetic testing faster and conveniently within the platform they use every day.

Genetic testing and precision medicine save lives, said Alan Hutchison, vice president of Population Health at Epic. Through this relationship, were bringing genetic insights to the point of care at scale, giving providers and patients the information they need to make more timely, informed decisions.

Myriads integration with Epic is expected to go live later this year.

About Myriad Genetics Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad develops and commercializes genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. Fast Company named Myriad among the Worlds Most Innovative Companies for 2022. For more information, visit http://www.myriad.com.

Myriad, the Myriad logo, BRACAnalysis, BRACAnalysis CDx, Colaris, Colaris AP, MyRisk, Myriad MyRisk, MyRisk Hereditary Cancer, MyChoice CDx, Prequel, Prequel with Amplify, Amplify, Foresight, Precise, FirstGene, Health.Illuminated., RiskScore, Prolaris, GeneSight, and EndoPredict are trademarks or registered trademarks of Myriad Genetics, Inc. 2022 Myriad Genetics, Inc. All rights reserved.

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 integration of the companys genetic tests with Epics network of physicians and patients and the expected timing of the integration; the companys growth plan to scale customer-centric, tech-enabled commercial capabilities with 600+ EHR integrations this year; the anticipated benefits of the integration, including that the integration will create an end-to-end workflow solution for healthcare providers to order Myriad tests and review results directly with their everyday Epic workflows, provide providers with critical genetic insights and related information they need to drive better health outcomes and improve the patient experience, and allow patients to easily access their Myriad test results directly from their EHR portal; and the companys strategic imperatives under the caption About Myriad Genetics. These forward-looking statements are managements present expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those described in the forward-looking statements. These risks include, but are not limited to: uncertainties associated with COVID-19, including its possible effects on the companys operations and the demand for its products and services and the companys ability to efficiently and flexibly manage its business; the risk that sales and profit margins of the companys existing molecular diagnostic tests may decline or that the company may not be able to operate its business on a profitable basis; risks related to the companys ability to generate sufficient revenue from its existing product portfolio or in launching and commercializing new tests; risks related to changes in governmental or private insurers coverage and reimbursement levels for the companys tests or the companys ability to obtain reimbursement for its new tests at comparable levels to its existing tests; risks related to increased competition and the development of new competing tests and services; the risk that the company may be unable to develop or achieve commercial success for additional molecular diagnostic tests in a timely manner, or at all; the risk that the company may not successfully develop new markets for its molecular diagnostic tests, including the companys ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying the companys molecular diagnostic tests and any future tests are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating and constructing the companys laboratory testing facilities; risks related to public concern over genetic testing in general or the companys tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to the companys ability to obtain new corporate collaborations or licenses and acquire or develop new technologies or businesses on satisfactory terms, if at all; risks related to the companys ability to successfully integrate and derive benefits from any technologies or businesses that it licenses, acquires or develops; risks related to the companys projections about the potential market opportunity for the companys current and future products; the risk that the company or its licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying the companys tests; the risk of patent-infringement claims or challenges to the validity of the companys patents; risks related to changes in intellectual property laws covering the companys molecular diagnostic tests, or patents or enforcement, in the United States and foreign countries; risks related to security breaches, loss of data and other disruptions, including from cyberattacks; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that the company may be unable to comply with financial operating covenants under the companys credit or lending agreements; risks related to the material weakness related to general information technology controls, including the impact thereof and the companys remediation plan, and its ability to achieve and maintain effective disclosure controls and procedures and internal control over financial reporting; risks related to current and future lawsuits, including product or professional liability claims; and other factors discussed under the heading Risk Factors contained in Item 1A of the companys Annual Report on Form 10-K filed with the Securities and Exchange Commission on February 25, 2022, as well as any updates to those risk factors filed from time to time in the companys Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. The reported number of physicians and patients in Epics network were provided by Epic.

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Myriad Genetics Teams Up with Epic to Make Genetic Testing Accessible to More Patients with Electronic Health Record (EHR) Integration - GlobeNewswire

Obesity is a health condition which involves accumulation of a large amount of fat. Unlike what we think, Obesity is not just a cosmetic condition. It, in fact, involves and increases the risk of a lot of other disorders such as heart disease, diabetes, high blood pressure and even certain types of cancers. Obesity is caused by a range of factors it usually involves eating a lot of calories and not burning enough of them which causes the fat to accumulate. Genetics is also one of the causes of obesity. Speaking to HT Lifestyle, Yash Vardhan Swami, Nutritionist, Health and Fitness Expert said, To gain weight we need to eat more calories than we burn (over time) and to lose weight, we need to eat lesser calories. To control this equation, we can eat more or fewer calories, or we can burn more or fewer calories. We can also do a bit of both.

Yash Vardhan Swami further added that this formula applies to everyone irrespective of the genetic makeup that they are a part of. Can our genes make it harder to lose weight? Certain gene variants can make it easier for us to gain weight by making it easier for us to eat more calories than what we burn over time which would lead to weight gain by increasing drive to eat (hunger and cravings) or reducing drive to move/burn calories (in simple terms, making us lazier).

ALSO READ: Health tips for adolescents: 5 problems due to obesity, ways to lose weight

The nutritionist further referred to the presence of the FTO Gene also known as the obesity gene, FTO gene is Fat Mass and Obesity Associated Gene which raises the risk of obesity. Referring to the part played by the FTO gene, the expert added, If you have one copy of gene (one parent), there would be a difference of 1.5kgs only (on an average). If you have two copies of the gene (both parents), there would be a difference of 3kgs only (on an average). So, if we are up to 3kgs up, we can blame our genetics. If it's more, genetics are not to be blamed. The expert recommended regular exercise which can reduce and slash the effect of the FTO gene and can prevent obesity.

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Obesity and genetics: Expert shares insights - Hindustan Times

Its a quirk of history that the foundations of modern biology and as a consequence, some of the worst atrocities of the 20th century should rely so heavily on peas. Cast your mind back to school biology, and Gregor Mendel, whose 200th birthday we mark next month. Though Mendel is invariably described as a friar, his formidable legacy is not in Augustinian theology, but in the mainstream science of genetics.

In the middle of the 19th century, Mendel (whose real name was Johann Gregor was his Augustinian appellation) bred more than 28,000 pea plants, crossing tall with short, wrinkly seeds with smooth, and purple flowers with white. What he found in that forest of pea plants was that these traits segregated in the offspring, and did not blend, but re-emerged in predictable ratios. What Mendel had discovered were the rules of inheritance. Characteristics were inherited in discrete units what we now call genes and the way these units flowed through pedigrees followed neat mathematical patterns.

These rules are taught in every secondary school as a core part of how we understand fundamental biology genes, DNA and evolution. We also teach this history, for it is a good story. Mendels work, published in 1866, was being done at the same time as Darwin was carving out his greatest idea. But this genius Moravian friar was ignored until both men were dead, only to be rediscovered at the beginning of the new century, which resolved Darwinian evolution with Mendelian genetics, midwifing the modern era of biology.

But theres a lesser-known story that shaped the course of the 20th century in a different way. The origins of genetics are inextricably wedded to eugenics. Since Plato suggested the pairing of high-quality parents, and Plutarch described Spartan infanticide, the principles of population control have been in place, probably in all cultures. But in the time of Victorian industrialisation, with an ever-expanding working class, and in the wake of Darwinian evolution, Darwins half-cousin, Francis Galton, added a scientific and statistical sheen to the deliberate sculpting of society, and he named it eugenics. It was a political ideology that co-opted the very new and immature science of evolution, and came to be one of the defining and most deadly ideas of the 20th century.

The UK came within a whisker of having involuntary sterilisation of undesirables as legislation, something that Churchill robustly campaigned for in his years in the Asquith government, but which the MP Josiah Wedgwood successfully resisted. In the US though, eugenics policies were enacted from 1907 and over most of the next century in 31 states, an estimated 80,000 people were sterilised by the state in the name of purification.

American eugenics was faithfully married to Mendels laws though Mendel himself had nothing to do with these policies. Led by Charles Davenport a biologist and Galton devotee the Eugenics Record Office in Cold Spring Harbor, New York, set out in 1910 to promote a racist, ableist ideology, and to harvest the pedigrees of Americans. With this data, Davenport figured, they could establish the inheritance of traits both desirable and defective, and thus purify the American people. Thus they could fight the imagined threat of great replacement theory facing white America: undesirable people, with their unruly fecundity, will spread inferior genes, and the ruling classes will be erased.

Pedigrees were a major part of the US eugenics movement, and Davenport had feverishly latched on to Mendelian inheritance to explain all manner of human foibles: alcoholism, criminality, feeblemindedness (and, weirdly, a tendency to seafaring). Heredity, he wrote in 1910, stands as the one great hope of the human race; its saviour from imbecility, poverty, disease, immorality, and like all of the enthusiastic eugenicists, he attributed the inheritance of these complex traits to genes nature over nurture. It is from Davenport that we have the first genetic studies of Huntingtons disease, which strictly obeys a Mendelian inheritance, and of eye colour, which, despite what we still teach in schools, does not.

One particular tale from this era stands out. The psychologist Henry Goddard had been studying a girl with the pseudonym Deborah Kallikak in his New Jersey clinic since she was eight. He described her as a high-grade feeble-minded person, the moron, the delinquent, the kind of girl or woman that fills our reformatories. In order to trace the origin of her troubles, Goddard produced a detailed pedigree of the Kallikaks. He identified as the founder of this bloodline Martin Kallikak, who stopped off en route home from the war of independence to his genteel Quaker wife to impregnate a feeble-minded but attractive barmaid, with whom he had no further contact.

In Goddards influential 1912 book, The Kallikak Family: A Study in the Heredity of Feeble-Mindedness, he traced a perfect pattern of Mendelian inheritance for traits good and bad. The legitimate family was eminently successful, whereas his bastard progeny produced a clan of criminals and disabled defectives, eventually concluding with Deborah. With this, Goddard concluded that the feeble-mindedness of the Kallikaks was encoded in a gene, a single unit of defective inheritance passed down from generation to generation, just like in Mendels peas.

A contemporary geneticist will frown at this, for multiple reasons. The first is the terminology feeble-minded, which was a vague, pseudopsychiatric bucket diagnosis that we presume included a wide range of todays clinical conditions. We might also reject his Mendelian conclusion on the grounds that complex psychiatric disorders rarely have a single genetic root, and are always profoundly influenced by the environment. The presence of a particular gene will not determine the outcome of a trait, though it may well contribute to the probability of it.

This is a modern understanding of the extreme complexity of the human genome, probably the richest dataset in the known universe. But a meticulous contemporary analysis is not even required in the case of the Kallikaks, because the barmaid never existed.

Martin Kallikaks legitimate family was indeed packed with celebrated achievers men of medicine, the law and the clergy. But Goddard had invented the illegitimate branch, by misidentifying an unrelated man called John Wolverton as Kallikaks bastard son, and dreaming up his barmaid mother. There were people with disabilities among Wolvertons descendants, but the photos in Goddards book show some of the children with facial characteristics that are associated with foetal alcohol syndrome, a condition that is entirely determined not by genetic inheritance, but by exposure to high levels of alcohol in utero. Despite the family tree being completely false, this case study remained in psychology textbooks until the 1950s as a model of human inheritance, and a justification for enforced sterilisation. The Kallikaks had become the founding myth of American eugenics.

The German eugenics movement had also begun at the beginning of the 20th century, and grown steadily through the years of the Weimar Republic. By the time of the rise of the Third Reich, principles such as Lebensunwertes Leben life unworthy of life were a core part of the national eugenics ideology for purifying the Nordic stock of German people. One of the first pieces of legislation to be passed after Hitler seized power in 1933 was the Law for the Prevention of Genetically Diseased Offspring, which required sterilisation of people with schizophrenia, deafness, blindness, epilepsy, Huntingtons disease, and other conditions that were deemed clearly genetic. As with the Americans tenacious but fallacious grip on heredity, most of these conditions are not straightforwardly Mendelian, and in one case where it is Huntingtons the disease takes effect after reproductive age. Sterilisation had no effect on its inheritance.

The development of the Nazis eugenics programmes was supported intellectually and financially by the American eugenicists, erroneously obsessed as they were with finding single Mendelian genes for complex traits, and plotting them on pedigrees. In 1935, a short propaganda film called Das Erbe (The Inheritance) was released in Germany. In it, a young scientist observes a couple of stag beetles rutting. Confused, she consults her professor, who sits her down to explain the Darwinian struggles for life and shows her a film of a cat hunting a bird, cocks sparring. Suddenly she gets it, and exclaims, to roars of laughter: Animals pursue their own racial policies!

The muddled propaganda is clear: nature purges the weak, and so must we.

The film then shows a pedigree of a hunting dog, just the type that you might get from the Kennel Club today. And then, up comes an animation of the family tree of the Kallikaks, on one side Erbgesunde Frau and on the other, Erbkranke Frau genetically healthy and hereditarily defective women. On the diseased side, the positions of all of the miscreants and deviants pulse to show the flow of undesirable people through the generations, as the voiceover explains. Das Erbe was a film to promote public acceptance of the Nazi eugenics laws, and what follows the entirely fictional Kallikak family tree is its asserted legacy: shock images of seriously disabled people in sanatoriums, followed by healthy marching Nazis, and a message from Hitler: He who is physically and mentally not healthy and worthy, may not perpetuate his suffering in the body of his child. Approximately 400,000 people were sterilised under this policy. A scientific lie had become a pillar of genocide in just 20 years.

Science has and will always be politicised. People turn to the authority of science to justify their ideologies. Today, we see the same pattern, but with new genetics. After the supermarket shootings in Buffalo in May, there was heated discussion in genetics communities, as the murderer had cited specific academic work in his deranged manifesto, legitimate papers on the genetics of intelligence and the genetic basis of Jewish ancestry, coupled with the persistent pseudoscience of the great replacement.

Science strives to be apolitical, to rise above the grubby worlds of politics and the psychological biases that we are encumbered with. But all new scientific discoveries exist within the culture into which they are born, and are always susceptible to abuse. This does not mean we should shrug and accept that our scientific endeavours are imperfect and can be bastardised with nefarious purpose, nor does it mean we should censor academic research.

But we should know our own history. We teach a version of genetics that is easily simplified to the point of being wrong. The laws in biology have a somewhat tricksy tendency to be beset by qualifications, complexities and caveats. Biology is inherently messy, and evolution preserves what works, not what is simple. In the simplicity of Mendels peas is a science which is easily co-opted, and marshalled into a racist, fascist ideology, as it was in the US, in Nazi Germany and in dozens of other countries. To know our history is to inoculate ourselves against it being repeated.

This article was amended on 20 June 2022. The mass shooting in Buffalo, US, in May 2022 was at a supermarket, not a school as an earlier version said.

Control: The Dark History and Troubling Present of Eugenics by Adam Rutherford is published by Weidenfeld & Nicolson (12.99). To support the Guardian and Observer order your copy at guardianbookshop.com. Delivery charges may apply

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Where science meets fiction: the dark history of eugenics - The Guardian

Researchers at Boston University on Thursday announced a breakthrough discovery about a gene associated with the risk of Alzheimer's disease.This risk is tied to the APOE4 gene, which destroys brain cells if a person carries the gene. It puts them at higher risk for developing the disease, although inheriting the gene doesn't necessarily mean one will develop the disease, according to the NIH. The APOE3 gene is the most common and isn't known to affect Alzheimer's risk.Although the link between the gene and the disease is well established, the mechanism responsible for the underlying risk in brain cells has been unclear in research until the recent discovery, according to researchers from the BU School of Medicine.Alzheimer's is a progressive neurodegenerative disorder and is the most common cause of dementia. It affects more than 5.8 million individuals in the United States.In the recent finding, two important aspects of the gene were discovered the human genetic background associated with the gene is unique to APOE 4 patients and the genetic defects are unique to human cells.Our study demonstrated what the APOE4 gene does and which brain cells get affected the most in humans by comparing human and mouse models. These are important findings as we can find therapeutics if we understand how and where this risk gene is destroying our brain," said assistant professor in the BU School of Medicine Julia TCW.Researchers used three models to investigate the effects of the gene on brain cells, human-induced pluripotent stem cells, post-mortem human brains and experimental models.It is also known that the gene carries a risk for Parkinson's disease and rare genetic diseases.

Researchers at Boston University on Thursday announced a breakthrough discovery about a gene associated with the risk of Alzheimer's disease.

This risk is tied to the APOE4 gene, which destroys brain cells if a person carries the gene. It puts them at higher risk for developing the disease, although inheriting the gene doesn't necessarily mean one will develop the disease, according to the NIH. The APOE3 gene is the most common and isn't known to affect Alzheimer's risk.

Although the link between the gene and the disease is well established, the mechanism responsible for the underlying risk in brain cells has been unclear in research until the recent discovery, according to researchers from the BU School of Medicine.

Alzheimer's is a progressive neurodegenerative disorder and is the most common cause of dementia. It affects more than 5.8 million individuals in the United States.

In the recent finding, two important aspects of the gene were discovered the human genetic background associated with the gene is unique to APOE 4 patients and the genetic defects are unique to human cells.

Our study demonstrated what the APOE4 gene does and which brain cells get affected the most in humans by comparing human and mouse models. These are important findings as we can find therapeutics if we understand how and where this risk gene is destroying our brain," said assistant professor in the BU School of Medicine Julia TCW.

Researchers used three models to investigate the effects of the gene on brain cells, human-induced pluripotent stem cells, post-mortem human brains and experimental models.

It is also known that the gene carries a risk for Parkinson's disease and rare genetic diseases.

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Researchers discover genetic variants that increase Alzheimer's risk - WCVB Boston

This article is sponsored by BASE10 Genetics. This article is based on a Q&A discussion that took place during the Clinical Conference, with Dr. Phil Jacobson, Senior Medical Director at Base10 Genetics. The Q&A took place on May 5, 2022. The discussion has been edited for length and clarity.

Skilled Nursing News: Im here with Dr. Phil Jacobson whos the senior medical director of the company. Hell share with you a little bit about himself and what they do.

Dr. Phil Jacobson: BASE10 provides data-driven technology platforms and software solutions to help improve patient care, as well as reduce costs and reduce the time burden for staff. I have an extensive background in academic and clinical practice in managing respiratory viruses, as well as with quality improvement, including designing sepsis alert tools and things that use technology to enhance patient care.

What is clinical decision support and how has it evolved?

Historically, clinical decision support I think of as clinical pathways or clinical protocols for specific disease entities, which can standardize care, and those pathways when theyre instituted correctly, they resulted in improved outcomes, as well as considerable cost savings. What weve done at BASE10 is develop some of these pathways in a way that uses consensus-based guidelines from authoritative entities such as AMDA, CDC, Infectious Diseases Society of America, and American Thoracic Society.

They come from the best experts in the world with these consensus ways of diagnosing and managing these things. Im going to focus my comments today mostly on the infectious disease management aspect of this. Now, the way its evolved though, its gone beyond just saying to the providers and the nurses, heres a pathway, heres an algorithm, figure out how your patient fits into this.

Now, what weve been able to do at BASE10 is create software that actually reads the electronic chart and uses pertinent data from the patient, and pinpoints the area of the algorithm which is specific for that patient, so that you get very pointed recommendations about diagnosis and management from the software that we provide.

What pathways and tools have worked in the long-term care settings, and are they widely used?

Pathways are used throughout hospitals and some long-term care facilities. Theres some very interesting recent literature on pathways, most notably the one from the University of Missouri investigators. They developed the Missouri Health Quality Initiative. What these investigators did was they looked at 11 facilities in the St. Louis area, and they instituted clinical pathways for specific entities such as bacterial pneumonia, urinary tract infection, and influenza.

What they did was they planted nurse practitioners every day in each of those facilities, in addition to instituting these clinical pathways. Then what they found was that by using the clinical pathways and the nurse practitioners, they were able to get earlier detection and earlier treatment for these infectious disease entities, thereby reducing the severity of illness, and ultimately, considerably reducing hospitalizations over a six-year period. They demonstrated a considerable reduction in hospitalizations with improved care, early detection, and a savings of approximately $35 million.

Now, the issue becomes how do you implement this at scale, having a practitioner on site every single day in this environment that may not be so simple? The next best thing we think is to have this technology answer, the software that can actually read the patient chart and have the pertinent data available to providers who are offsite so that they can better manage the patients without being physically present. We think that that could be something thats really important.

Theres another very important study done out of Ontario, Canada. This one didnt involve nurse practitioners, but it involved 22 facilities looking specifically at the management of bacterial pneumonia to see if they could prevent hospitalizations by using clinical pathways. The clinical pathway they used was one where they instituted antibiotics IV fluids, pulse oximetry, and supplemental oxygen, if necessary. Half the patients were on the clinical pathway track and the other half just went about with standard operating procedures.

In some cases, they used standing orders to empower the nursing staff to just institute the pathway when the diagnosis was made, or the providers would be saying, okay, we got the diagnosis, go ahead and institute the pathway without giving specific explanations of what to do. What they found was once again they were able to get earlier detection, and earlier treatment of bacterial pneumonia, and they had marked improvement over the controls in terms of hospitalization rate for the pathway group so obviously improved care, but so much so also that they saved on average $1,000 per patient per diagnosis of pneumonia. Once again, another demonstration of how pathways or protocols can enhance, and this one didnt even use the technology that I was talking about or the software reading the chart.

What are the implications of clinical decision support on quality and medication management which is something we hear in the nurse space all the time right now?

The three basic things that this can accomplish are improved care, cost savings, and time savings for the staff. All things that Ive heard throughout the theme of todays activities. In terms of the pathways themselves and keeping up to date with consensus guidelines, thats one of the things that were doing. Were taking the experts in the fields from all those authoritative entities. Were able to give the best possible practice of these pathways and keep them up to date.

Now, some things are static but if you think about the pandemic how much has changed in terms of what the recommendations are, the monoclonal antibodies arent working very well, etc. Were able to stay up to date about what the treatment guidelines are and what the diagnostic guidelines are from these entities.

In addition to that, it allows for these disparate points of data from the patient specifically to be captured in a way thats useful for the management of the patient. Instead of the providers and the nurses scrounging around the chart, looking for data such as allergies or previous infection or renal function, or things that are really important, the software is able to provide this in a nutshell right in front of the face and provide recommendations associated with it.

Our software even uses data from antibiograms so that you can know what the resistance patterns are within the particular facilities. Up until this time, Ive been emphasizing early detection and early diagnosis to prevent hospitalizations, to get better treatment, to have decreased severity of illness, but a very important aspect of infection management is preventing overdiagnosis and overtreatment, and theres a strong public health initiative about antibiotic stewardship.

We dont want to overuse antibiotics. What happens when we use antibiotics too much? For one thing, antibiotics have side effects just like any other drug. If you think about long-term care residents, there are already potentially a lot of other drugs, and the potential for drug-drug interactions which are adversarial is considerable. Thats one place where its a problem.

The use of antibiotics can create an environment thats ripe for an infection called Clostridium difficile to thrive. Clostridium difficile can cause severe gastroenteritis which can be life-threatening, and in fact, does kill many patients every year. Maybe the most common and worst of all, the problems associated with the overuse of antibiotics is a multiple of drug resistance. The more we use antibiotics, the more pathogens evolve, so that they become resistant. When true infections occur, these antibiotics arent available to us to use, to treat these infections. This is a major public health problem in which thousands and thousands of people die every year because of multiple drug resistance.

For these reasons, we have to find a way with technology to pinpoint, to thread the needle of catching infections early, and get them treated while preventing overdiagnosis and overtreatment for all of these reasons.

Can you tell me what the cost benefits are? What cost benefits can be seen by implementing a successful clinical decision support system?

There are direct and indirect cost benefits, and the direct cost benefits are things like prevention of hospitalization, getting less severe ailments, and on the other side of that, prescribing too many drugs and too many lab tests are also very costly. There are some very direct, measurable cost benefits associated with using appropriate infectious disease management, and threading that needle as I mentioned about not underdiagnosing but not overdiagnosing. Then there are a number of indirect costs associated with it.

If you think about the time that a nurse spends just administering the drug seems fairly simple, but what does a nurse have to do? They have to find the drug wherever its stored, whether its a refrigerator or some compartment closet. They have to get that open. They have to use a scanning tool. They have to check the right drug, the right patient, and the right dose.

They have to come and administer the drug. If its an oral drug, they may have to bring some water. Then, of course, theres making sure the patients able to take the drug plus the charting that goes along with it.

Every seemingly simple task has a lot of micro-tasks associated with it and is time-consuming. If you think about the scheduled drug, well, that can really throw off workflows. These are the types of indirect time-related costs that could be associated with this problem. We estimated at BASE10 that just for infectious disease management alone, we believe that up to 75% based on CDC reports and other people that about 75% of antibiotics prescribed, are inappropriate or overused. Thats a lot, and so just having this antibiotic stewardship can be something really important.

In addition to that, we estimate that savings, with appropriate infectious disease management direct costs of that facility of about 100 residents, could save about $80,000 per year just by getting this right, and from indirect cost and time, about 80 hours per year per 100-bed facility. We could see that theres a lot of different things that could be done to save time and to save money.

Another thing that BASE10 does to help facilities is reporting. Were talking about infectious diseases right now. Theres a lot of responsibility for state and government reporting. As many of you know during the pandemic, COVID reporting was a major burden on facilities, very time-consuming, and very difficult. Fifty-seven percent of facilities incurred citations for inappropriate or underreporting of COVID, and these citations come with hefty fines, and weve instituted a way with our technology to offer the service and take on the burden of reporting.

Additionally, the clients have been extremely pleased with the amount of time that was saved from the staff not being burdened with this. In short, I think that weve heard a lot about lobbying and doing things with the government, but we at BASE10 are focusing on creative solutions to how to take better care of the patients, how to do it at lower costs, and how to do it with reducing the burden of time thats obviously on the shorthanded facilities.

BASE10 Genetics brings hope to the lives of vulnerable patients by helping them access the latest in precision medicine technologies through our disease management platform. To learn more, visit http://www.base10genetics.com.

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Clinical Conference: A Discussion with BASE10 Genetics - Skilled Nursing News