Category Archives: Genetics

Genetics

Discrimination ups anxiety risk regardless of genetics – The Tribune

New York, January 15

Regardless of genetic risks, exposure to discrimination in life plays a significant role in developing anxiety and related disorders, suggests a new study.

Published in the Proceedings of National Academy of Sciences journal, the study determined that even after controlling genetic risk for anxiety, depression and neuroticism, people reported greater discrimination experiences.

"The results demonstrate that discriminatory experiences can potentially cause stress and mental health problems regardless of the genetic constitution of the individual," said researcher Adolfo G Cuevas, an assistant professor at Tufts University in the US.

To gain insight on the connection, the research team used data from a national probability sample of nearly 1,500 non-institutionalised, all English-speaking adults between 25 to 74 years in age.

Nearly 49 per cent of the sample were women.

Three self-report scales were used to measure discrimination and other forms of social exclusion, including everyday discrimination, major discrimination and chronic job discrimination.

After accounting for increased genetic liability for anxiety, depression, neuroticism, and other potential genetic and socio-demographic factors, the researchers found a high degree of interdependence between discrimination and anxiety.

The team said the findings demonstrate that alleviating the impact of discrimination has the potential to improve mental health within the overall population. IANS

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Discrimination ups anxiety risk regardless of genetics - The Tribune

Genetics

Scientists discover genetic variations that have a drastic impact on small molecules – News-Medical.Net

The human organism requires a variety of small molecules, such as sugars or fats, in order to function properly. The composition of these so-called metabolites and their interaction - the metabolism - varies from person to person and is dependent not only on external influences, such as nutrition, but also to a significant extent on natural variations in our genetic make-up.

In an international study, scientists from the Berlin Institute of Health (BIH) and Charit - Universittsmedizin Berlin joined forces with colleagues from the United Kingdom, Australia and the United States and discovered hundreds of previously unknown variations in genes that have a sometimes drastic impact on the concentration of these small molecules in the blood. The researchers have now published their findings in the journal Nature Genetics.

The concentration and composition of metabolites - small molecules in the blood or tissue fluid - provide information about biological processes in the human body. They therefore serve as important biomarkers in clinical medicine, for example in the diagnosis of diseases or in checking the effectiveness of a therapy. Interestingly, the composition of metabolites differs from person to person, independent of external influences such as illness or diet.

This is because the blueprints for the proteins that influence metabolite concentration, such as enzymes and transporter proteins, also differ between individuals. Often, the tiniest genetic variants can cause a metabolic enzyme to be more or less active or a transporter protein to be more or less efficient, thus raising or lowering the concentration of metabolites.

The team led by Claudia Langenberg, BIH Professor of Computational Medicine, has now investigated the effect of genetic variants on 174 different metabolites. "We found a surprising number of correlations between certain genetic variants and changes in the concentration of small molecules in the blood," reports the epidemiologist. "In most cases, the genetic variants cause changes in the blueprint of key metabolism regulators, like enzymes or transporters."

To explore these correlations, Langenberg's team needed huge amounts of data.

For our studies, we used large databases that gave us the blood test results and genetic information of a total of around 85,000 people. In doing so, we were able to successfully demonstrate that it is possible to jointly evaluate data from a variety of small individual studies, even across technological boundaries."

Maik Pietzner, Lead Author and Scientist in Langenberg's Laboratory

The scientists' work is highly relevant to medicine, because it can explain how naturally occurring genetic variants that influence the metabolism contribute to the onset of common diseases, such as diabetes mellitus, as well as rare diseases. For example, high levels of the amino acid serine in the blood seem to provide protection against a rare eye disease called macular telangiectasia - knowledge that opens up new therapeutic avenues.

In another study, the authors were also able to show that an individual's genetic risk for altered serine metabolism can aid in the early diagnosis of this serious eye disease. They have also identified a new mechanism that explains how the disrupted transmission of signals via the GLP-2 receptor increases the risk of developing type 2 diabetes.

"What was special about our study were the extreme effects that we observed and their potential relevance for medical research," explains Langenberg. "For example, we were able to detect genetic variants that have an influence on metabolism a good three times as strong as the already known effects of more common genetic variations, for example on body mass index."

To enable scientists around the world to link up their particular fields of expertise with their data, the team has set up an interactive website at http://www.omicscience.org. After all, Langenberg emphasizes, data is only relevant if it can also be used: "We very much hope that these compelling examples will encourage other scientists and doctors to apply our results to their specific research or disease cases."

Source:

Journal reference:

Lotta, L.A., et al. (2021) A cross-platform approach identifies genetic regulators of human metabolism and health. Nature Genetics. doi.org/10.1038/s41588-020-00751-5.

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Scientists discover genetic variations that have a drastic impact on small molecules - News-Medical.Net

Genetics

Genes and diet can play a role in developing Type 2 diabetes – Norton Healthcare

Type 2 diabetes is genetic in the sense that you may inherit a predisposition to the disease, but not the disease itself. Put another way, a high-fat and high-cholesterol diet and lack of exercise can trigger diabetes in some people, but not others.

Type 2 diabetes runs in families partly because of genetics and partly because children often learn bad habits like poor diet and lack of exercise from their parents. There also is a genetic component to obesity.

Even if you are genetically prone to diabetes, you can delay or prevent it by making healthy food choices, exercising and losing weight.

Heredity and the habits we grew up with help explain why African American adults are 60% more likely than non-Hispanic white adults to be diagnosed with diabetes and twice as likely to die from diabetes, said Steven Patton, D.O., family medicine physician with Norton Community Medical Associates Preston.

Diabetes has its own complications that develop gradually. They include:

Your risk for Type 2 diabetes will determine whether you should have your blood sugar checked as frequently as once per year. If increased blood sugar levels are detected early, losing weight or medication will have a better chance of keeping diabetes at bay.

Checking your blood sugar for signs of diabetes is a simple blood test, and the results are available quickly, especially if youve signed up for a free MyNortonChart account.

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Genes and diet can play a role in developing Type 2 diabetes - Norton Healthcare

Genetics

Akouos and Blueprint Genetics Announce the Resonate Program to Improve Access to Genetic Testing for Individuals with Auditory Neuropathy -…

BOSTON, Jan. 11, 2021 (GLOBE NEWSWIRE) -- Akouos, Inc. (Akouos) (NASDAQ: AKUS), a precision genetic medicine company dedicated to developing potential gene therapies for individuals living with disabling hearing loss worldwide, and Blueprint Genetics, a Quest Diagnostics company, today announced the Resonate program. The program offers genetic testing to eligible individuals with auditory neuropathy at no cost to participants, their insurance, or their healthcare providers.

Every year, thousands of children are born with disabling hearing loss and the majority of cases of congenital hearing loss are due to an underlying genetic cause. However, few individuals receive a genetic diagnosis and a key barrier is the availability and accessibility of genetic testing. The Resonate program seeks to overcome the barriers to genetic testing for individuals with auditory neuropathy, empower them to make informed choices, and provide potentially valuable insight to inform medical management.

Akouos is committed to deepening the community's understanding of the genetic forms of auditory neuropathy, a type of sensorineural hearing loss. Today, there are no pharmacologic therapies approved for the treatment of hearing loss. The development of new therapeutic options for underserved patient populations has become increasingly reliant on identification of the underlying genetic cause of a genetic disease, disorder, or condition, said Manny Simons, Ph.D., founder, president, and CEO of Akouos. We hope the Resonate program, along with our efforts to better understand the genetic causes and natural history of multiple forms of sensorineural hearing loss, will enable the research and development of novel genetic medicines for individuals with disabling hearing loss.

There are many different genetic changes that cause hearing loss. These changes can be complex and difficult for routine genetic testing to detect. Understanding the genetic cause of hearing loss requires a high-quality genetic testing strategy that includes the mitochondrial genome, difficult-to-sequence genes, and deep intronic variants in addition to copy number variants in order to increase the diagnostic potential for the program participant. We are excited to work with Akouos to offer our comprehensive genetic testing approach to individuals with auditory neuropathy, says Tero-Pekka Alastalo, M.D., Ph.D., executive medical director of Blueprint Genetics.

The Resonate program is available in the United States and plans to expand to additional geographic regions throughout 2021. To be eligible for the program, individuals can be any age, and must have a current or prior clinical diagnosis of auditory neuropathy, or a medical history consistent with auditory neuropathy. Auditory neuropathy is a hearing disorder in which the inner ear successfully detects sound, but has a problem with sending sound from the ear to the brain.In many cases, genetic mutations cause auditory neuropathy. The Resonate program provides access to the Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that includes more than 230 genes associated with genetic forms of hearing loss. To help understand their results, participants in the United States also have access to genetic counseling provided by the program at no cost to participants, their insurance, or their healthcare providers.

For more information on the Resonate program, individuals and families please visit http://www.akouosresonate.com and healthcare providers please visit http://www.blueprintgenetics.com/resonate-program.

About AkouosAkouos is a precision genetic medicine company dedicated to developing gene therapies with the potential to restore, improve, and preserve high-acuity physiologic hearing for individuals living with disabling hearing loss worldwide. Leveraging its precision genetic medicine platform that incorporates a proprietary adeno-associated viral (AAV) vector library and a novel delivery approach, Akouos is focused on developing precision therapies for forms of sensorineural hearing loss. Headquartered in Boston, Akouos was founded in 2016 by leaders in the fields of neurotology, genetics, inner ear drug delivery, and AAV gene therapy. http://www.akouos.com

About Blueprint GeneticsBlueprint Genetics, a Quest Diagnostics company, is a leading specialty genetics and bioinformatics company focused on providing genetic testing for inherited diseases. The company is based in Helsinki and Seattle, with a customer base spanning over 70 countries.www.blueprintgenetics.com

Cautionary Note Regarding Akouos Forward-Looking StatementsStatements in this press release about Akouoss future expectations, plans and prospects, as well as any other statements regarding matters that are not historical facts, may constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. These statements include, but are not limited to, statements relating to the expectations for the Resonate program and the roll-out of the Resonate program. The words anticipate, believe, continue, could, estimate, expect, intend, may, plan, potential, predict, project, should, target, will, would and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: Akouoss plans to develop and, if approved, subsequently commercialize Akouoss product candidates; the timing of and Akouoss ability to submit applications for, and obtain and maintain regulatory approvals for, Akouoss product candidates; Akouoss expectations regarding Akouoss regulatory strategy; Akouoss expectations regarding Akouoss ability to fund Akouoss operating expenses and capital expenditure requirements with Akouoss cash, cash equivalents and marketable securities; the potential advantages of Akouoss product candidates; the rate and degree of market acceptance and clinical utility of Akouoss product candidates; Akouoss estimates regarding the potential addressable patient population for Akouoss product candidates; Akouoss commercialization, marketing and manufacturing capabilities and strategy; Akouoss expectations regarding Akouoss ability to obtain and maintain intellectual property protection for Akouoss product candidates; Akouoss intellectual property position; Akouoss ability to identify additional products, product candidates, or technologies with significant commercial potential that are consistent with Akouoss commercial objectives; the impact of government laws and regulations; Akouoss competitive position and expectations regarding developments and projections relating to Akouoss competitors and any competing therapies that are or become available; developments and expectations regarding developments and projections relating to Akouoss competitors and Akouoss industry; the impact of the COVID-19 pandemic on Akouoss business, results of operations, and financial condition; Akouoss ability to maintain and establish collaborations or obtain additional funding; and other factors discussed in the Risk Factors included in Akouoss Quarterly Report on Form 10-Q for the three months ended September 30, 2020 filed with the Securities and Exchange Commission, and in other filings that Akouos makes with the Securities and Exchange Commission in the future. Any forward-looking statements contained in this press release speak only as of the date hereof, and Akouos expressly disclaims any obligation to update any forward-looking statement, whether as a result of new information, future events or otherwise.

Akouos

Media:Katie Engleman, 1ABkatie@1abmedia.com

Investors:Courtney Turiano, Stern Investor RelationsCourtney.Turiano@sternir.com

Blueprint Genetics

Tero-Pekka Alastalo, executive medical directortpa@blueprintgenetics.com

Saara Salonoja, communication specialistsaara.salonoja@blueprintgenetics.com

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Akouos and Blueprint Genetics Announce the Resonate Program to Improve Access to Genetic Testing for Individuals with Auditory Neuropathy -...

Genetics

Medscape study in collaboration with 23andMe finds Primary Care Physicians are increasingly more comfortable with direct-to-consumer genetic health…

"This study highlights a significant shift in how primary care physicians view DTC genetic health testing."

The report also found 80 percent of PCPs are open or likely to recommend DTC genetic testing for health if asked about it by their patients, and for 61 percent of PCPs, FDA oversight of health reports was a necessary element of any DTC genetic test they might recommend.

"This study highlights a significant shift in how primary care physicians view DTC genetic health testing," said L. Okey Onyejekwe Jr., MD, JD, Vice President of Healthcare Operations and Medical Affairs at 23andMe. "In just two year's time, the data show PCPs are much more accepting, and in some cases wholeheartedly embracing this type of testing, especially tests that include health reports with FDA oversight. As more consumers turn to DTC genetic testing for health insights into their genome, it's encouraging to see that PCPs are much more open to patients bringing their test results into the clinic for further discussion and potential follow up testing when warranted."

When it comes to all genetic testing, not just DTC genetic testing, 71 percent of PCPs are comfortable making appropriate referrals to specialists based on genetic information, compared to 44 percent in 2018. Further, 46 percent of PCPs are comfortable ordering genetic testing, a four-fold increase from 2018, and 41 percent are comfortable using genetic information to make treatment decisions, a two-fold increase over 2018.

"The shift in the primary care community's point of view on genetic testing over a relatively short period of time is striking, and points to the tests results having greater utility and impact in patient care," said Hansa Bhargava, M.D., Medscape Senior Medical Director. "We are pleased that we could contribute to increasing awareness of the role of genetic testing in the primary care environment."

Methodology

This report was completed by 1,000 U.S. primary care physicians on the Medscape platform between August 26, 2020 and September 14, 2020. Ninety percent of respondents practice Family or Internal medicine and respondents have practiced an average of 19 years. Respondents were invited to respond to the online survey. The margin of error at a 95% confidence level is +/- 3.0%. The report is a follow-up to a 2018 report on the same topic, which was completed by 1,000 U.S. primary care physicians on the Medscape platform between October 25, 2018 and November 22, 2018.

About Medscape

Medscape is the leading source of clinical news, health information, and point-of-care tools for health care professionals. Medscape offers specialists, primary care physicians, and other health professionals the most robust and integrated medical information and educational tools. Medscape Education (medscape.org) is the leading destination for continuous professional development, consisting of more than 30 specialty-focused destinations offering thousands of free C.M.E. and C.E. courses and other educational programs for physicians, nurses, and other health care professionals. Medscape is a subsidiary of WebMD Health Corp.

About WebMD Health Corp.

WebMD Health Corp., an Internet Brands Company, is the leading provider of health information services, serving patients, physicians, health care professionals, employers, and health plans through public and private online portals, mobile platforms, and health-focused publications. The WebMD Health Network includes WebMD Health, Medscape, Jobson Healthcare Information, prIME Oncology, MediQuality, Frontline, Vitals Consumer Services, Aptus Health, MedicineNet, eMedicineHealth, RxList, OnHealth, Medscape Education, and other owned WebMD sites. WebMD, Medscape, CME Circle, Medpulse, eMedicine, MedicineNet, theheart.org, and RxList are among the trademarks of WebMD Health Corp. or its subsidiaries.

About 23andMe

23andMe, Inc. is the leading consumer genetics and research company. Founded in 2006, the mission of the company is to help people access, understand, and benefit from the human genome. 23andMe is the first direct-to-consumer company to receive FDA authorization for genetic health reports, and has millions of customers worldwide, with more than 80 percent of customers consented to participate in research. 23andMe, Inc. is located in Sunnyvale, CA. More information is available at http://www.23andMe.com.

SOURCE 23andMe

https://www.23andme.com/en-ca/

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Medscape study in collaboration with 23andMe finds Primary Care Physicians are increasingly more comfortable with direct-to-consumer genetic health...

Genetics

Misrepresentation of self-reported drinking and genetic studies – RACGP

News

New research investigates whether misreporting and changes in behaviour can prejudice the results of genetic studies on alcohol consumption.

It is well known that modifying behaviours and lifestyle can serve as risk or protective factors for common diseases.Alcohol consumption presents one of the most common harms, particularly for increased risk of cardiovascular and metabolic diseases and mental health. A number of large-scale epidemiological studieson alcohol consumption conclude that no level of alcohol consumption improves health.But according to new research, this conclusion may contradict negative estimates of the genetic link between alcohol consumption and some diseases including obesity, major depressive disorder, Parkinsons disease, and type 2 diabetes as reported in recent genome-wide association studies identifying numerous genetic variants associated with human behavioural traits.It is also contradictory to the protective effects of moderate drinking reported in observational studies.The recently published observational study found genetic studies that rely on self-reported drinking may be biased by misreporting and changes in behaviour. The study found conflicting results from some genetic studies in that people with genetic-based tendencies towards drinking alsohave lower rates of somediseases, suggesting a possibleprotective effect of alcohol against disease.One possible explanation the authors found was that patients with a disease may change their alcohol consumption upon diagnosis, or misreport their alcohol consumption in a survey.According to the authors, behavioural traits are subject to misreports and longitudinal changes, and misreports are common in self-reported data setsbut often overlooked in genetic analyses. This can cause biases in genome-wide association studies and follow-up analyses.These misreports are mainly attributed tosocial desirability, when the tendency for participants to answer questions is in ways that make them viewed favourably by others, and recall bias, when the accuracy and completeness of past events recalled by participants are influenced by subsequent events that they experienced.It is hoped the study findings will help explain conflicting reports about the link between alcohol consumption and certain diseases.Using data from 455,607 individuals in the UK Biobank, the researchers investigated biases due to misreports and longitudinal changes in genetic analyses of self-reported behavioural traits, including alcohol consumption, tobacco smoking, and physical activities, without correcting for misreporting or changes in behaviour.Their findings were negative genetic correlations between alcohol consumption and type 2 diabetes, hypertensive disease and iron deficient anaemias. After correcting for misreporting and behavioural changes, the negative correlations disappeared and they found positive correlations with eight different conditions, including cardiovascular disease and total disease count.Our studies demonstrate that individuals with higher disease burden in the UK Biobank are more likely to misreport or reduce their alcohol consumption levels, and propose a correction procedure to mitigate the misreports and longitudinal changes-induced biases, the authors wrote.The alcohol consumption genome-wide association studies signals removed by the misreports and longitudinal changes corrections are enriched in metabolic/cardiovascular traits. Almost all the previously reported negative estimates of genetic correlations between alcohol consumption and common diseases become positive/non-significant after the misreports and longitudinal changes corrections.Another important source of bias noted by the authors is the change in amount of alcohol consumption during the life course, for reasons such as changes in health status. For example, if people change their level of alcohol consumption because they are affected by a disease, the diagnosis will give rise to a bias in observed or genetic relationship between alcohol consumption and the disease.The authors anticipate the results of this study will demonstrate the significance of potential biases in genetic studies of behavioural traits, and provide a method to correct them for future research. They do note, however, that this bias does not necessarily apply to all populations or behavioural traits.Our findings provide a plausible explanation of the controversy about the effects of alcohol consumption on health outcomes and a caution for future analyses of self-reported behavioural traits in biobank data, the authors wrote.Log in below to join the conversation.

alcohol consumption genetics preventive health

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Misrepresentation of self-reported drinking and genetic studies - RACGP

Genetics

Based on genes, nearly everyone is likely to have an atypical response to at least one drug – Scope

Every drug, from morphine to ibuprofen, has a standard dose -- a sort of one-size-fits all recommendation. But a new study suggests that when it comes to drug doses, "one size fits all" rarely applies.

Stanford Medicine professor Russ Altman, MD, PhD, and a team of scientists found that almost everyone (99.5% of individuals) is likely to have an abnormal or "atypical" response to at least one therapeutic drug. This, at least, is the case for people in the United Kingdom, as the study's data came from the UK Biobank, a project that collects, studies and shares data.

The research found that nearly a quarter of the study's participants had been prescribed a drug for which they were predicted to have an atypical response, based on their genetic makeup. On average, participants were predicted to have an atypical response to 10 drugs.

"Ultimately, the hope is that we can show how pervasive drug response variability is and encourage more doctors to rethink the standard prescription protocols that are largely used today and use genetic testing to predict and adjust forthis variability," said Altman, who is an expert in pharmacogenetics, a field that studies the intersection of drugs and genetics.

An "atypical" drug response encompasses a lot of things; but generally speaking, it means a certain drug might not affect one person the way it does another.

For instance, someone who has an atypical metabolic response might process that drug more efficiently, strengthening its initial effects but decreasing its efficacy over time. On the flip side, it could mean that that person is unable to metabolize the drug at all, leaving them without therapeutic aid, or even with dangerous side effects.

These differences in response to a drug are partially due to our genetics. Specific proteins -- workhorse molecules in the body -- break down drugs in order for the body to benefit from the therapeutic. Those proteins are regulated by a specific group of genes. Natural variation in those genes leads to differences in how an individual's body reacts to a given drug molecule.

Altman and his team, including graduate students and first authors of the study Greg McInnes and Adam Lavertu, analyzed data from nearly 500,000 participants.

For 230,000 participants in the study, the team had primary care data going back about 30 years. That includes which drugs had been prescribed, the dose, and all of the patient's different diagnoses. The researchers also had access to detailed genetic information about each patient. They paid special attention to genetic variations in a group of genes that are known to influence the human drug response.

By comparing an individual's genetics against the variations known to exist in the group of drug-response-associated genes, the researchers could predict how any given patient might respond to a drug.

"Pharmacogenetics as a field has been around for a long time, but it hasn't really been adopted into clinical use," McInnes told me. "It's been growing in the last few years as more people realize the impact that it could have on personalized health. For a long time, it's been this overlooked aspect of genetics that I think is actually one of the most clinically actionable advances that has come out of human genetics."

What's more, he said, the wide variability in the human drug response applies to common therapeutics most everyone has encountered or is familiar with -- ibuprofen, codeine, statins and beta blockers among others.

Moving forward, Lavertu says that the goal is to expand drug-gene variant interaction analyses into more diverse populations. The data from the UK Biobank provided critical insight, but it was largely only representative of a British population, where the majority shares European ancestry. A next step for the researchers is to investigate the same genes in the Million Veteran Program, a government research program with a more diverse study population, that is examining how genes, lifestyle and military exposures affect health and illness.

"Our hope is that doing more of these studies will help us find new relationships between genetic variants and drug response, so that pharmacogenetics can benefit more people," Lavertu said.

Photo byMicha Parzuchowski

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Based on genes, nearly everyone is likely to have an atypical response to at least one drug - Scope

Genetics

Stocks making the biggest moves after the bell: Cal-Maine Foods, Myriad Genetics & more – CNBC

Cases of eggs from Cal-Maine Foods, Inc., await to be handed out by the Mississippi Department of Agriculture and Commerce employees to several hundred families along with over 1,400 boxes of meat products from Merchants Foodservice and 2,200 gallons of milk from Borden Dairy, at the Mississippi State Fairgrounds in Jackson, Miss., Aug. 7, 2020.

Rogelio V. Solis | AP

Check out the companies making headlines after the bell on Tuesday:

Cal-Maine Foods Cal-Maine Foods reported a surprise profit for its fiscal second quarter, sending the stock up more than 2% after-hours trading. The company posted earnings per share of 25 cents on revenue of $347.3 million. Analysts polled by FactSet expected a loss of 8 cents pre share on revenue of $333.5 million. The company's egg-dozen sales grew by 4.6% on a year-over-year basis.

Myriad Genetics Shares of the biotechnology company rose nearly 2% on news Myriad will explore "strategic alternatives" for its autoimmune business. The company is also restructuring its international operations.

Smart Global Holdings Smart Global posted fiscal first-quarter earnings per share that were better than expected, lifting the computer-memory manufacturer's stock up by 2.4%. Smart Global reported adjusted earnings per share of 78 cents, topping a FactSet estimate of 70 cents per share. The company also issued better-than-expected revenue guidance for the current quarter.

Nektar Therapeutics Nektar shares slipped about 1% after the company announced Dr. Brian Kotzin will take over as interim chief medical officer, effective immediately, replacing current CMO Wei Lin.

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Stocks making the biggest moves after the bell: Cal-Maine Foods, Myriad Genetics & more - CNBC

Genetics

What is Genetic Cancer Testing and How Do Patients Get Tested? – Curetoday.com

At the molecular level all cancers are genetic, they start as your normal breast cell or ovaries and overtime pick up small genetic changes. When talking about inherited testing or hereditary testing only a small portion of cancer can be passed down in a family. We roughly quote 5-10% can be due to hereditary reasons or something we might find in an inherited genetic test, explained Dr. Tong at the CURE Educated Patient Womens Cancer Summit.

Genetic testing is a critical part of understanding these cancers, as well as how to treat, and Ill be discussing today about how we think about how genetics fits in cancer development, how genetic testing plays a role and how genetic counseling can help induvial and families come to decisions around genetics, says Dr. Tong.

Some exceptions include, up to 20% of negative breast cancers that can be hereditary and up to 25% of ovarian cancers can be hereditary, which is why genetic testing is recommended for all ovarian cancers.

When talking about hereditary cancer Dr. Tong says clinicians and genetic counselors are thinking about if that person has a higher chance of developing cancer, because nobody is at a 0% of developing cancer. Genetic testing will look at to see if they can identify what is elevating the persons risk of developing cancer, and can you potentially explain why a person developed certain cancer.

Part of what we learn from genetic testing, is not only could it have been due to a hereditary cause, such as a mutation in a gene, but which gene mutation and how can we differentially take care of people depending on which gene mutation did cause that, says Dr. Tong.

Guidelines recommend that all women diagnosed with epithelial ovarian cancer and breast cancer should be offered genetic testing.

Beginning in 2015 technology has brought three different types of gene testing or as they call it, Multi-Gene Panel Testing. Then there is a decision about how much genetic testing to do. For genes that they know are associated with inherited risk, those are high and moderate risk genes, they have actionable guidelines for treatment, risk reduction or prevention.

As technology develops you think about if the low-risk genes should also be looked at, the most likely have no impact on your health, such as a recessively inherited cancer risk, the information from these genes may be relevant to your family members or future generations. Some panel offers looking at newly described genes, they have limited evidence that they may impact inherited cancer risk, and they dont have actionable guidelines yet but could in the future.

We think that pretest counseling with a genetic counselor can help an induvial better understand how genetics impacts or plays a role in their cancer diagnosis or in their family history. Genetic counselors will take a look at family history and go many generations to look at distant relatives to see if there is a pattern to the cancers of that family that can be inherited, or does it look more like sporadic risks, then that counselor can discuss what the testing options are, how much testing to have or if its even right for you or not, says Dr. Tong about genetic testing counseling.

Types of results include a negative, the most important to be working with a genetic counselor, meaning there was no change found in the gene, it is considered a normal result and cancer treatment, screening and prevention decisions can be based on personal and family history of cancer. The next is a variant or uncertain significance, also considered a normal result, a change was found but is most likely due to normal human variation. The last result is positive result, where they find a change or genetic mutation that is associated with cancer, cancer treatment, screening and prevention decisions will be based on the risks specific to the change found.

Some may fear that they may be discriminated against due to their genetic testing results. There are laws in place that will protect you and your family members from employment or health insurance discrimination such as the Genetic Information Non-Discrimination Act of 2008, or GINA. In addition, there is the Americans with Disabilities Act, ADA, and the Health Information Portability and Accountability Act, HIPPA. However, there are limitations, how these laws dont protect against other types of discrimination such as life insurance, disability or long-term care, which would be discussed in your genetic counseling session.

Genetic testing can help thinking about what the path forward is for you and your family when we do learn the results, Dr. Tong concludes. He says going to a genetic counselor can help medically keep you healthy and also emotionally, connecting you with different resources and support organizations.

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What is Genetic Cancer Testing and How Do Patients Get Tested? - Curetoday.com

Genetics

Global Genetic Testing Market Forecasts for Applications and Technologies to 2025 – ResearchAndMarkets.com – Yahoo Finance

The "Genetic Testing. Global Market Forecasts for Applications and Technologies. Updated for COVID-19 Pandemic Impact with Executive and Consultant Guides 2021 to 2025" report has been added to ResearchAndMarkets.com's offering.

The role of genetics in health and disease is just now being understood. This new knowledge, combined with lower pricing is driving the Genetic Testing industry to record growth. New drugs may only work for people with a certain genetic makeup, and this too is driving the Genetic Testing Industry.

The traditional genetic testing market is growing in volume and growing in the breadth of tests creating a new life for the industry. The report forecasts the market size out to 2025. The report includes detailed breakouts for 14 countries and 5 regions.

Predictive Diagnostics? Pharmacogenomic Testing? Direct to Consumer? Find out about the technology in readily understood terms that explain the jargon. What are the issues? Find the opportunities and the pitfalls. Understand growth expectations and the ultimate market forecasts for the next five years.

Companies Mentioned

10x Genomics, Inc

23andME Inc

Abbott Diagnostics

AccuraGen Inc

Adaptive Biotechnologies

Admera Health, LLC

Agena Bioscience, Inc

Agilent

Akonni Biosystems

Ancestry.com LLC

Anchor Dx

ArcherDx, Inc

ARUP Laboratories

Asuragen

Baylor Miraca Genetics Laboratories

Beckman Coulter, Inc

Becton, Dickinson and Company

BGI Genomics Co. Ltd

Bio-Rad Laboratories, Inc

Bio-Techne

Bioarray Genetics

Biocept, Inc

Biodesix Inc

BioFluidica

BioGenex

Biolidics Ltd

bioMerieux Diagnostics

Bioneer Corporation

Cancer Genetics

Caris Molecular Diagnostics

CellMax Life

Centogene

Chronix Biomedical

Circulogene

Clinical Genomics

And Many More Companies!

1. Introduction and Market Definition

1.1 Genetic Testing Definition in This Report

1.2 The Genomics Revolution

1.3 Market Definition

1.3.1 Revenue Market Size

1.3.1 Newborn Screening

1.3.2 Non Invasise Pregnancy Testing

1.3.3 Predictive

1.3.4 Oncology

Story continues

1.3.5 Direct to Consumer

1.3.6 Other Application

1.3.7 PCR

1.3.4 NGS

1.3.5 Cytogenetic

1.3.6 Other Technology

1.4 U.S. Medical Market and laboratory Testing - Perspective

1.4.1 U.S. Medicare Expenditures for Laboratory Testing

2. Market Overview

2.1 Market Participants Play Different Roles

2.1.1 Supplier/pharmaceutical

2.1.2 Independent lab specialized/esoteric

2.1.3 Independent lab national/regional

2.1.4 Independent lab analytical

2.1.5 Public National/regional lab

2.1.6 Hospital lab

2.1.7 Physician lab

2.1.8 DTC Lab

2.1.9 Independent Genetic Testing Lab

2.1.10 Audit Body

2.2 Genetic Tests -Types, Examples and Discussion

2.2.1 Preimplantation Genetic Diagnosis- An Emerging Market

2.2.2 Prenatal Diagnosis - New Technologies Create Opportunity

2.2.3 Newborn Screening

2.2.2 Diagnostic Testing

2.2.3 Carrier Testing

2.2.6 Predictive and Presymptomatic Testing

2.2.7 Pharmacogenomics

2.2.8 Forensic Testing

2.2.9 Parental Testing

2.2.10 Ancestral Testing

2.3 Industry Structure

2.3.1 Hospital's Testing Share

2.3.2 Economies of Scale

2.3.2.1 Hospital vs. Central Lab

2.3.3 Physician Office Lab's

2.3.4 Physician's and POCT

2.4 Market Shares of Key Genetics Players - Analysis

3. Market Trends

3.1 Factors Driving Growth

3.1.1 Genetic Discoveries Creating New Diagnostic Markets

3.1.2 Aging Population a Boon for Diagnostics

3.1.3 Pharmacogenomics Drives Further Growth

3.1.4 Oncology and Liquid Biopsy Enter New Era

3.1.5 Fertility Practice Growth drives market

3.1.6 Direct to Consumer begins to break out

3.2 Factors Limiting Growth

3.2.1 Increased Competition Lowers Price

3.2.2 Lower Costs

More:
Global Genetic Testing Market Forecasts for Applications and Technologies to 2025 - ResearchAndMarkets.com - Yahoo Finance