Category Archives: Genetics

Genetics

Genetics Discovery Reveals How Legumes Give Oxygen to Symbiotic Bacteria in Their Roots – SciTechDaily

Legume Root nodules colored pink by leghaemoglobin and caused by a symbiotic relationship between the plant and beneficial bacteria. Credit: John Innes Centre

Scientists discover the genetics inside legumes that control the production of an oxygen-carrying molecule, crucial to the plants close relationships with nitrogen-fixing bacteria.

The finding offers the potential to give other plants the ability to produce ammonia from bacteria reducing the need for the fossil fuel-dependent and polluting practice of applying synthetic fertilizer to crops.

The roots of legume plants are home to symbiotic bacteria. These bacteria can fix nitrogen from the air, turning it into ammonia, a key nutrient for plants.

In return, the plants house the bacteria in root nodules, providing sugars and oxygen. The amount of oxygen needs to be just right to support the symbiosis, the bacteria need oxygen to fuel their chemical reactions, but too much inhibits a key enzyme that turns nitrogen in the air into the ammonia that can be used by the plant.

The plants solution to this oxygen paradox of biological nitrogen fixation is a molecule called leghemoglobin. Like hemoglobin that carries oxygen in our blood, leghemoglobin binds to oxygen and is red; it gives legume nodules their pink color. Until now its been unclear how plants control how much of this molecule is produced.

The research team have identified two transcription factors that control how much leghemoglobin is made in legume nodules.

This gives a key insight into how legume plants create the microaerobic environment needed for nitrogen-fixation. This knowledge could be useful for improving nitrogen-fixation in legumes and would be essential for transfer of nodulation to non-legume crops, explains corresponding author Dr. Jeremy Murray, CEPAMS Group Leader.

Dr. Jeremy Murray continues, While many genes involved in other nodulation processes have been identified, this is the first breakthrough on the gene regulatory network involved directly in control of nitrogen fixation.

The research was carried out by a collaborative team, led by Dr. Suyu Jiang in Dr Jeremy Murrays group at theCAS-JIC Centre of Excellence for Plant and Microbial Science (CEPAMS), Centre for Excellence in Molecular Plant Sciences (CEMPS), Chinese Academy of Sciences, Shanghai, China, with collaboration from Dr. Pascal Gamas and Dr. Marie-Franoise Jardinaud at LIPME (Universit de Toulouse, France).

Using the model legume,Medicago truncatula, the research team looked at a family of proteins in plants which has several members with roles in nodulation. They looked at which proteins in this class are produced in symbiosis-housing nodules and found that there was two NIN and NLP2, and that when these are inactive, nitrogen fixation is reduced. This suggested that they are involved in nitrogen fixation.

To investigate further, they grew plants in an aeroponic system, without soil, to be able to look at the nodules, and found the plants lacking NIN and NLP2 were smaller in size and had smaller and less-pink nodules. On closer inspection, they had lower levels of leghemoglobin. Further experiments found that NIN and NLP2 directly activate the expression of leghemoglobin genes.

This research project was purely curiosity-driven, all we knew at the outset was that the transcription factor we were studying was highly and specifically expressed in nitrogen-fixing cells, we were initially not aware of any connection to leghemoglobins, reflects Dr. Murray.

The research has also given insights into the evolution of this important symbiosis. They found that other members of the transcription factors family regulate the production of non-symbiotic hemoglobins found in plants, which are involved in plants response to low oxygen levels.

Jeremy explains further, This was exciting because it suggests that these transcription factors and their hemoglobin targets were recruited to nodulation as modules to help improve energetics in nitrogen-fixing cells, giving a rare glimpse into how this symbiosis evolved.

Reference: NIN-like protein transcription factors regulate leghemoglobin genes in legume nodules 28 October 2021, Science.DOI: 10.1126/science.abg5945

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Genetics Discovery Reveals How Legumes Give Oxygen to Symbiotic Bacteria in Their Roots - SciTechDaily

Genetics

Using Genetic Predispositions to Determine the Likelihood of Being Diagnosed With Pancreatic Cancer – Cancer Network

Since pancreatic cancer is often diagnosed in later stages of the disease, many patients do not have a chance to receive timely systemic treatment with the potential to control their tumors. As such, clinicians have been consistently looking for ways to inform prospective patients about potential diagnoses.

Allyson Ocean, MD, from Weill Cornell Medicine, an investigator on the GENERATE study (NCT03762590) that used information about current patients to guide genetic testing in family members who may be predisposed to pancreatic cancer. Additionally, investigators educated patients on the importance of genetic testing and attempted to determine if the information was understood and passed on to other family members.

In an interview with CancerNetwork ahead of Pancreatic Cancer Awareness Month, Ocean discusses the need for genetic testing, the key findings from this trial, and upcoming trials on pancreatic cancer that have the potential to help prolong survival.

CancerNetwork: Can you describe the rationale for the GENetic Education Risk Assessment and TEsting study in patients with pancreatic ductal adenocarcinoma?

Ocean: This study was undertaken, because pancreatic cancer is associated with high mortality, with 90% of people not surviving past 5 years. The aggressiveness of this disease results in a short time window for people to get critical therapies that could extend their life. If we can intervene earlier and discover the disease at an earlier stage, survival is so much better. This study [aimed to assess] the relatives of people who carry an inherited disposition to develop pancreatic cancer, and it concentrated on those relatives who also have inherited this genetic risk for cancer. We want to test these individuals earlier so that we can enroll them in a screening study and they can be followed before cancer develops, or [the cancer] can be caught at an earlier stage. That was the ultimate reason why this study was undertaken [was] to see how relatives of people who carry a known genetic predisposition to get pancreatic cancer feel about genetic testing, or whether they will do genetic testing. We also wanted to see how people understand disease that is involved with their genes, and whether they want to discover if they have an inherited [predisposition to] pancreatic cancer and how to handle that information once they do find out.

Q: How may genetic testing lead to better education regarding the prevention of pancreatic cancer?

Ocean: Right now, less than half of people diagnosed with pancreatic cancer ever get any form of genetic testing, but its part of the guidelines. Now every patient diagnosed with pancreatic cancer is supposed to receive genetic testing; and when I say genetic testing, its genetic germline testing, [which means] testing your blood for an inherited gene that could predispose you to pancreatic cancer. We perform this blood test which covers on average about 13 different genes that can lead to pancreatic cancer. The more people we test, the more likely we are going to pick up an inherited predisposition to pancreatic cancer and therefore, we can screen those people and hopefully intervene earlier before the disease develops; or even if the disease does develop, catch it at an earlier stage when it is operable or treatable.

Q: Which pathogenic variants are most likely to be linked to pancreatic cancer? Was this consistent with prior research?

Ocean: This study looked at 13 predisposed genes for the development of pancreatic cancer. Those genes are APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, and TP53. These are the 13 known genes that have an association with the development of pancreatic cancer. We have known about these genes for a while and that they can lead to pancreatic cancer. Thats why this panel of genes was tested in this study population. Rhis panel is used when people get referred to a genetic counselor or a physician to test them for an inherited predisposition.

Q: Going forward, how can clinicians use these results to better understand and educate their patients?

Ocean: This study was important because it was done completely remotely. We were able to screen over 400 patients to find the study population of over 100 patients. This was all done through the GENERATE Study website [by] remote collection of saliva for genetic testing. There were 2 arms of the study. One of the arms of the study involved genetic education with a video on learning about the reasons why we need to do genetic testing; it was more involved education around why testing needs to be done. The other arm of the study was the testing that was carried out by the company that performed the test without the pre-evaluation or the pre-education that went into it. We wanted to see if this extra education would lead to more uptake of testing by the person who is potentially affected.

The study found that the uptake across the board for both arms was actually very high. It was over 90%, which is amazing. Nowadays, most people are not getting genetic testing done. We were able to test more than 90% of people in this remote fashion, [in which] they were sent a kit that used their saliva, spit into a kit or a had a way of delivering their saliva into the tube, and then they sent off the tube for testing. When they got the results back, they were counseled on the meaning of the results and what it means for them if they didn't indeed inherit a genetic predisposition to pancreatic cancer.

There were a lot of resources attached to the study in connecting these people who did test positive for enrollment in further screening studies. This was a very important study because it showed that something like this can be done in a remote fashion, which was actually very important during the pandemic. It doesnt have to be an in person testing process to capture [the largest sample of] people who get genetic testing. Its recommended by the guidelines that all patients have genetic testing, its just that the uptake of this testing is not nearly as good as it should be. This was one of the efforts to increase the genetic testing so that we can catch cases of pancreatic cancer that are hereditary at its earliest phase.

Q: Are there any plans to continue the study on a larger scale?

Ocean: Right now, this studywhich was sponsored by Stand Up to Cancer and the Lustgarten Foundationhas plans to do even more analysis with the data that was captured. They want to figure out the measure of the effect of this intervention on the primary outcome of these patients.

The secondary outcome of the study [was related to determining if there was] any distress from the participants who took part of it? Did they gain cancer genetic knowledge? Did they have improved communication with their family members about the inherited disposition that they inherited from a family member? They also looked at different outcomes of who would pursue this in the future and whos likely to uptake and to continue surveillance procedures as it relates to further testing for pancreatic cancer? Right now, all these data are being looked at. This study is very important and will continue with the projected sample size for the whole study of 500 participants, including 250 randomized to each arm. This will continue and become an important data discovery for patients with hereditary predisposition to pancreatic cancer.

Q: What emerging research in pancreatic cancer do you think has the greatest potential for clinical impact?

Ocean: Its an exciting time in research for pancreatic cancer because there are so many groups working on different mechanisms of actions in different treatments for this disease. We can investigate the therapeutics in different areas or buckets, such as targeted agents, chemotherapy, [and treatments for] KRAS mutations which [overproduce] the driving growth protein in the pancreatic cancer cell. There is a whole group of drugs in the metabolism space, which are looking at getting at the energy supply of the cancer cell and decreasing that energy supply so that the cell doesnt have enough energy to divide and grow and produce new cells. There are different areas of research across the board for pancreatic cancer, so it is an exciting time.

Specifically, were waiting on certain studies, specifically in the metabolism space, to come out soon as well as certain immunotherapy studies and some of the KRAS-directed therapies that are currently in clinical trials; but thats a way away. Right now, as it relates to genetic testing, theres ongoing trials using PARP inhibitors in patients who carry theBRCA gene, which is one of the genes that we tested in the GENERATE study. [Other studies are] looking at PARP inhibitors in combination with immunotherapy and other agents, other cell cycle agents, and combination therapies for patients who have BRCA-mutated pancreatic cancer. Thats an active area of research right now. The genetic landscape in pancreatic cancer affects about 10% of patients, so its not everybody who inherits these genes that that these drugs will be applicable to. But it is a large number of patients, around 6000 patients each year, that could benefit from therapies that are aimed at the genetics of their cancer.

Q: Is there a specific trial, that youre eager to see the results of?

Ocean: I am interested in the results of the study of devimistat [CPI-613] that in combination with FOLFIRINOX [5-fluorouracil, irinotecan, oxaliplatin; NCT05070104], which is in the category of anti-metabolism. Weve been waiting those trial results for a few years now. I have had some patients enrolled on the trial who have had beneficial outcomes. Im looking forward to and hoping that those results could be beneficial for patients, and that is something that Im going to be looking out for in the coming months.

Q: Are there any trials that clinicians treating patients with pancreatic cancer should be aware of?

Ocean: Its very important to talk to your patients about clinical trials and pancreatic cancer. It is a difficult undertaking, because clinical trials are changing all the time, with spots that open, trials that close, and then new trials that open. At any one given time at one center, clinical trials are variable. There may be more options outside of the institution where the patient is being treated.

I always refer patients to our site that we created, called Lets Win Pancreatic Cancer, because they have a clinical trials finder on that website thats pancreatic cancer specific. If patients go to http://www.letswinpc.org, they can find a clinical trials specific for pancreatic cancer; it covers nationwide clinical trials. People can search for trials geographically by where they are, they can search by what line of therapy they need. For instance, if a patient has not had treatment yet, they would look for a first-line or a treatment-naive clinical trial. Its a very user-friendly platform that is being [used to connect patients] with emerging medicine in clinical trials.

I also encourage patients to check out the Lets Win website because there are so many survivor stories of patients with metastatic disease who are living many years with their disease or have been cured of their disease, even in its advanced stages, with treatments highlighted in the survivor stories. There you can see what clinical trial a patient participated in, you can read about specific clinical trials, and learn about the science behind them. You could also see what treatments patients are receiving at the respective centers theyre being treated. Everything on the site is hyperlinked and you can click on whatever story you want to get the information [about] exactly where that patient was treated, how they were treated, what clinical trial they were on. It is a wealth of information for patients who are looking for clinical trials and who want to know anything about the science of pancreatic cancer, the treatments that are available, and the research that is going into pancreatic cancer to improve upon the outcomes for patients that had this devastating disease.

Furniss CS, Yurgelun MB, Ukaegbu C, et al. Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study. Cancer Prev Res (Phila). Published Online October 8, 2021. doi:10.1158/1940

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Using Genetic Predispositions to Determine the Likelihood of Being Diagnosed With Pancreatic Cancer - Cancer Network

Genetics

Elizabeth M. McNally, M.D., Ph.D., FAHA, named the American Heart Association’s 2021 Distinguished Scientist in Basic Cardiovascular Sciences -…

Embargoed until 7 a.m. CT / 8 a.m. ET Wednesday, Nov. 3, 2021

DALLAS, Nov. 3, 2021 The American Heart Association will present its 2021 Distinguished Scientist in Basic Cardiovascular Sciences to Northwestern Universitys Elizabeth M. McNally, M.D., Ph.D., FAHA. The Association designates Distinguished Scientist awards in several categories to members who have significantly advanced the understanding of cardiovascular, stroke or brain health. The six 2021 Distinguished Scientist awardees will be honored during the AssociationsScientific Sessions 2021, which will be fully virtual, Saturday, Nov. 13 through Monday, Nov. 15, 2021.

Dr. McNally was selected for this honor because of her multiple discoveries around the heredity of musculoskeletal and cardiovascular disorders. Her work impacts both scientific research and patient care. Additionally, Dr. McNally discovered new techniques for identifying and mapping genetic modifiers for inherited cardiovascular and myopathic disorders.

Thank you and congratulations to Dr. Elizabeth McNally, said Association President Donald M. Lloyd-Jones, M.D., Sc.M., FAHA. Her work continues to help us develop a deeper understanding of how genetic mutations exert their effects on cardiovascular disease. She leads an incredible team that is using these genetic signals to take the critically important step of developing of new therapies, particularly for inherited cardiac conditions such as cardiomyopathies.

Dr. McNally directs the Center for Genetic Medicine at Northwestern Universitys Feinberg School of Medicine in Chicago and is the Elizabeth J. Ward Professor of Genetic Medicine - a cardiologist with expertise in cardiovascular genetics. As a clinician, she developed one of the first cardiovascular genetics clinics in the nation, integrating genetic testing into cardiovascular care for patients and families.

Her research team at Northwestern discovers genetic causes of cardiac disorders and then works to define the mechanisms of how these genetic variants cause disease. By developing a deeper understanding as to how these genetic mutations exert their effects, she is using these genetic signals to drive the development of new treatments for cardiovascular disease. She has a special interest in neuromuscular genetic diseases like muscular dystrophy since these disorders often have accompanying cardiovascular complications.

Genetic treatments are becoming a reality, said Dr. McNally. As a physician scientist, its amazing to see some of these treatments beginning to make it to patients. In Duchenne Muscular Dystrophy, there are now multiple ongoing trials of gene therapy, and this will also be gene therapy that treats the heart. We also know about all the newly developing gene editing tools, and how these can be adapted to treat patients with genetic cardiovascular diseases and one day to also change genes to treat even more common forms of heart disease.

Dr. McNallys translational accomplishments have been recognized through an award from the Burroughs Wellcome Foundation and as a recipient a Distinguished Clinical Scientist Award from the Doris Duke Charitable Foundation. She serves on the Board of Directors for the Muscular Dystrophy Association and is currently the chair of the Associations Council on Basic Cardiovascular Sciences. She is a past president of the American Society for Clinical Investigation and currently president of the Association of American Physicians. Earlier this year, she was elected to the American Academy of Arts and Sciences.

Additional Resources:

The Association receives funding primarily from individuals; foundations and corporations (including pharmaceutical, device manufacturers and other companies) also make donations and fund specific Association programs and events. The Association has strict policies to prevent these relationships from influencing the science content. Revenues from pharmaceutical and biotech companies, device manufacturers and health insurance providers and the Associations overall financial information are availablehere.

The American Heart AssociationsScientific Sessions 2021is a premier global exchange of the latest scientific advancements, research and evidence-based clinical practice updates in cardiovascular science for health care professionals worldwide. The three-day meeting will feature more than 500 sessions focused on breakthrough cardiovascular basic, clinical and population science updates in a fully virtual experience Saturday, Nov. 13 through Monday, Nov. 15, 2021. Thousands of leading physicians, scientists, cardiologists, advanced practice nurses and allied health care professionals from around the world will convene virtually to participate in basic, clinical and population science presentations, discussions and curricula that can shape the future of cardiovascular science and medicine, including prevention and quality improvement. During the three-day meeting, attendees receive exclusive access to more than 4,000 original research presentations and can earn Continuing Medical Education (CME), Continuing Education (CE) or Maintenance of Certification (MOC) credits for educational sessions. Engage in Scientific Sessions 2021 on social media via#AHA21.

About the American Heart Association

The American Heart Association is a leading force for a world of longer, healthier lives. With nearly a century of lifesaving work, the Dallas-based association is dedicated to ensuring equitable health for all. We are a trustworthy source empowering people to improve their heart health, brain health and well-being. We collaborate with numerous organizations and millions of volunteers to fund innovative research, advocate for stronger public health policies, and share lifesaving resources and information. Connect with us onheart.org,Facebook,Twitteror by calling 1-800-AHA-USA1.

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Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Elizabeth M. McNally, M.D., Ph.D., FAHA, named the American Heart Association's 2021 Distinguished Scientist in Basic Cardiovascular Sciences -...

Genetics

AI predicts gathering disease with a deep dive into evolutionary genetics – AI in Healthcare

Researchers have used unsupervised machine learning to predict disease-causing properties in more than 36 million genetic variants across more than 3,200 disease-related genes.

In the process theyve advanced the classification of more than 256,000 genetic variants whose propertieshelpful, harmful or neitherhave been unknown.

The work was conducted at Harvard Medical School and Oxford University. The resulting study is posted online in Nature.

Quantifying the pathogenicity of protein variants in human disease-related genes would have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of these variants still have unknown consequences, write co-lead authors Jonathan Frazer, Mafalda Dias and colleagues to contextualize their pursuit.

In principle, computational methods could support the large-scale interpretation of genetic variants, they add. However, state-of-the-art methods have relied on training machine learning models on known disease labels.

For the current project, the team sought to overcome this limitation by modeling the distribution of sequence variation across organismsand over vast swaths of time.

In so doing, they hypothesized, they would isolate fitness-maintaining features in protein sequences.

Calling their model EVE for evolutionary model of variant effect, the authors report their technique proved more accurate than labeled-data AI approaches.

Whats more, it can equal or improve upon predictions from more commonly used approaches.

The team states their work with EVE suggests models of evolutionary information can provide valuable independent evidence for variant interpretation that will be widely useful in research and clinical settings.

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AI predicts gathering disease with a deep dive into evolutionary genetics - AI in Healthcare

Genetics

The market for Europe hereditary genetic testing is predicted to grow at a CAGR of 13.34% during the forecast period 2021-2031 – Yahoo Finance

Europe Hereditary Genetic Testing Market to Reach $19. 31 Billion by 2031. Market Report Coverage - Europe Hereditary Genetic Testing Market Segmentation.

New York, Nov. 02, 2021 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Europe Hereditary Genetic Testing Market - A Regional Analysis: Focus on Products, Sample Type, Applications, and Nordic and Baltic Region, Country Data (12 Countries), and Competitive Landscape - Analysis and Forecast, 2020-2031" - https://www.reportlinker.com/p06178588/?utm_source=GNW

Product Kits, Consumables, Services, Others Sample Type Tumor Tissue, Bone Marrow, Blood, Saliva, Others Application Oncology Genetic Testing, Cardiology Genetic Testing, Neurology Genetic Testing, Newborn Screening, Prenatal Screening and Preimplantation Testing, Rare Disease Testing, Direct-to-Consumer (DTC) Testing

Regional Segmentation

EU5: Germany, U.K., France, Italy, Spain Nordic Region: Finland, Sweden, Denmark, Norway Baltic Region: Estonia, Lithuania, Latvia

Market Growth Drivers

Increasing Awareness Toward Hereditary Genetic Testing Rising Prevalence of Genetic Disorders Increasing Research Funding in the Field of Genomics

Market Challenges

High Cost of Genetic Testing Stringent Regulatory Standards

Market Opportunities

Technological Advancements in the Hereditary Genetic Testing Process Growing Demand for Direct-to-Consumer (DTC) Testing Service

Key Companies Profiled

Agilent Technologies, Inc., Woble Helsinki Oy, Negen Oy, Devyser, CeGat GmbH, Beijing Genomics Institute (BGI), BerGenBio ASA, Eurofins Scientific SE, F. Hoffmann-La Roche Ltd, Illumina, Inc., Myriad Genetics, Inc., Alnylam Pharmaceuticals, Inc., Quest Diagnostics Incorporated, Thermo Fisher Scientific Inc.

Key Questions Answered in this Report: What is the current trend in the Europe hereditary genetic testing market? Based on products, which segment is anticipated to witness a massive rise in demand during the forecast period 2021-2031? Based on sample type, which segment is anticipated to witness a massive rise in demand during the forecast period 2021-2031? Based on types of testing, which segment is anticipated to witness a massive rise in demand during the forecast period 2021-2031? Based on countries, which country is anticipated to witness a massive rise in demand during the forecast period 2021-2031? What are the major drivers, challenges, and opportunities in the Europe hereditary genetic testing market? What are the key developmental strategies implemented by the key players to stand out in this market? Which leading companies are dominating the Europe hereditary genetic testing market, and what is the share of these companies in the Europe hereditary genetic testing market? What are the regulations pertaining to the Europe hereditary genetic testing market, and what initiatives have been implemented by different government bodies regulating the development and commercialization of Europe hereditary genetic testing? How is each segment of the Europe hereditary genetic testing market expected to grow during the forecast period, and what will be the revenue generated by each of the segments by the end of 2031? How is the market for Europe hereditary genetic testing expected to evolve during the forecast period 2021-2031? What is the market scenario for the Europe hereditary genetic testing market in different countries? What are the key trends of different regions in the Europe hereditary genetic testing market? Which country is expected to contribute to the highest sales in the Europe hereditary genetic testing market during the forecast period 2021-2031?

Market Overview

Genetic testing is a type of DNA testing used to determine changes in chromosome structure or DNA sequence.Genetic testing can also include measuring the outcomes of genetic modifications, such as mutation, RNA analysis as an output of gene expression, or biochemical analysis to measure specific protein output.

For cancer risk, genetic testing includes testing for inherited genetic variants that can be associated with a high to moderately increased risk of cancer in the patient and are responsible for inherited cancer susceptibility syndromes.

Hereditary genetic testing classifies changes in chromosomes, genes, and proteins.The outcome of hereditary genetic testing authorizes a suspected genetic condition that further helps to determine a persons chance of passing or developing a genetic disorder.

To date, more than 1,000 hereditary genetic tests have been used, and many others are being developed for testing.

Europe is one of the powerhouses for genomic science and research.Genetic testing data sharing is becoming an integral part as scientists join forces across borders for enabling genetic testing for the benefit of mankind.

Genetic testing can be performed for various purposes, which may or may not fall in medical science.Thus, regulatory needs depend on the context of the test being performed and for which purpose.

It can be either to detect monogenic diseases, medical-nonmedical purposes, predispositions or carrier tests, diagnostic and treatment purposes, predictive tests for late-onset diseases, drug response, family planning, forensics, population screening, and DNA profiling or research.

With several companies eagerly competing to establish dominance in the Europe hereditary genetic testing market, several emerging companies have undertaken significant activities to establish their position in the market. Although these companies are currently far behind the market leaders, some of them have made significant strides to grow into major players, owing to initiatives undertaken to expand their respective product portfolios and regional footprints.

BIS healthcare experts have found hereditary genetic testing to be one of the most rapidly evolving markets. The market for Europe hereditary genetic testing is predicted to grow at a CAGR of 13.34% during the forecast period 2021-2031. As per BIS research, hereditary genetic testing comprises the ecosystem of multiple services offered, products used, and the target population.

The optimistic scenario of the market can be witnessed if the COVID-19 recovery is swift across key countries in Europe.The scenario assumes an increasing demand for technology, products, services, and growth in the end-user base across regions.

Furthermore, the scenario also assumes more product and service launches for genetic testing, especially in the Nordic and Baltic regions. Additionally, the companies in the market are investing more in rare disease and reproductive genetics, which is one of the bolstering factors for optimistic growth.

The following report presents the reader with an opportunity to unlock comprehensive insights with respect to the Europe hereditary genetic testing market and helps in forming well-informed strategic decisions. The market research study also offers a wide perspective of the different types of hereditary genetic testing products and services available in the market and their impact on the diagnostic and genomics industry by providing critical insights into the direction of its future expansion.

The Europe hereditary genetic testing market has been growing since its inception. Several European countries, including Germany, France, the U.K., Italy, Spain, Denmark, Finland, Sweden, Norway, Estonia, Lithuania, and Latvia, are working persistently to enhance the adoption of precision medicine solutions, including hereditary genetic testing market, across Europe region. Acknowledging the unique role of hereditary genetic testing is a significant step toward the establishment of a suitable and effective regulatory approval procedure, coupled with an effective pricing strategy and reimbursement policy. However, country-specific technology evaluation and reimbursement policies in Europe may result in different coverage for many genetic testing technologies across Europe. For instance, in France, Germany, Italy, and the U.K., HER2 testing is publicly funded. However, in Spain, the majority of NGS testing is funded by hereditary-based test manufactures. Therefore, companies are trying to work closely with the payers and other decision-makers to increase the adoption on a country-by-country, and in few cases, hospital-by-hospital basis, which generally limits accessibility and results in a poor adoption rate.

Germany accounted for the maximum share of the market within the Europe region in 2020.The country has one of the biggest pharmaceutical markets in Europe.

Further, it is among the largest exporter of medicinal products and ranks among the top pharmaceutical producers globally.The growth in this region can be primarily attributed to the rising pharmaceutical R&D expenditure, increasing geriatric population coupled with growing disease prevalence, and the rising focus to eradicate rare diseases across the region.

However, the region also faces high competition from the Asian economies that offer cheap manufacturing materials and low cost of labor.

Within the research report, the market is segmented based on products, sample type, applications, and region.Each of these segments has been further categorized into sub-segments to compile an in-depth study.

Each of these segments covers the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive Landscape

The Europe hereditary genetic testing market is largely dominated by companies such as Woble Helsinki Oy, Negen Oy, Devyser, CeGaT GmbH, Beijing Genomics Institute (BGI), BerGenBio ASA, Eurofins Scientific SE, F. Hoffmann-La Roche Ltd, Illumina, Inc., Laboratory Corporation of America Holdings, Myriad Genetics, Inc., Alnylam Pharmaceuticals, Inc., Quest Diagnostics Incorporated, and Thermo Fisher Scientific Inc.

Companies such as LabCorp, Illumina, Myriad, and Quest Diagnostics are the leading suppliers of genetic testing products and services in the Europe market.When compared to the other European countries, the Nordic and Baltic region is mainly dominated by Bluprint Genetics (Quest Diagnostics) and Eurofins.

In addition, regional players such as Devyser, CeGat GmbH, and Negen Oy offer products in the markets.

Among the Nordic and Baltic regions, the Nordic region contributes more to the Europe hereditary genetic testing market.The country which performs the largest number of genetic tests in the Nordic region is Finland.

A lot of investment in research for characterization of the population for rare diseases has been made in Finland by Blueprint Genetics.

Countries Covered EU5 Germany U.K. France Italy Spain Nordic Region Finland Sweden Denmark Norway Baltic Region Estonia Lithuania LatviaRead the full report: https://www.reportlinker.com/p06178588/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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The market for Europe hereditary genetic testing is predicted to grow at a CAGR of 13.34% during the forecast period 2021-2031 - Yahoo Finance

Genetics

THIS rare genetic hearing loss condition can be linked to infertility, says scientists – Times Now

The research led by NHS Foundation Trust and The University of Manchester could revolutionise the diagnosis and treatment for people with Perrault syndrome.  |  Photo Credit: iStock Images

London: A team of researchers has identified a common link between Perrault syndrome, a rare genetic condition resulting in hearing loss in men and women, and early menopause or infertility in women.

The research led by NHS Foundation Trust and The University of Manchester could revolutionise the diagnosis and treatment for people with Perrault syndrome.

The study, published in the American Journal of Human Genetics, revealed eight different genes that can cause this same condition.

Not only will it directly benefit families with this specific type of hearing loss, but a deeper understanding of the biological processes involved in hearing are likely to have wider implications, providing insights into more common forms of hearing loss, the researchers said.

According to Bill Newman, Professor of Translational Genomic Medicine in The Manchester Centre for Genomic Medicine, the research began 10 years ago at Saint Mary's Hospital, when a local family had Perrault syndrome. After some genetic studies doctors identified a novel gene and changes in that gene that caused the condition.

Newman said that after sharing the discovery they had requests from around the world asking "us to undertake tests in their patients, to see if they had changes in this same gene".

While they did not find the same changes in the genes as the Manchester family, it made them search for other genes.

"We know these genes are important in a part of the cell called the mitochondria, known as the energy bundles of the cell, we know that some tissues in our body are very susceptible to when the mitochondria don't work, and that's why we believe these hearing and ovarian problems occur," Newman said.

"As girls do not usually receive this diagnosis until puberty, earlier diagnosis would help young women to make decisions about preserving their eggs before menopause, to allow reproduction options later in life.

"Babies with significant hearing loss will now be screened for changes in these genes so that we can identify earlier if they have Perrault syndrome. This has a potential life-changing impact for families," he noted.

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THIS rare genetic hearing loss condition can be linked to infertility, says scientists - Times Now

Genetics

What’s Going on With Fulgent Genetics? – The Motley Fool

Fulgent Genetics' (NASDAQ:FLGT) sales soared thanks to its COVID-19 tests. Its stock more than quadrupled in 2020 and is up over 50% so far this year. In this Motley Fool Live video recorded on Sept. 29, 2021, Motley Fool contributors Keith Speights and Brian Orelli discuss what's going on now with Fulgent.

Keith Speights: Your thoughts on Fulgent Genetics, ticker is FLGT?

Brian Orelli: The company is still developing genetic tests, which was what they were doing before the pandemic. They're still doing COVID-19 testing, which is what they pivoted or added during the pandemic. Then they are using all that cash that they're getting from the COVID-19 to expand fairly quickly.

They bought a company that does more other types of tests for cancers, looking at imaging the tumors and that thing and looking at the chromosomes. I think that they are using that to expand their offerings, so now that they will be able to do genetic testing on the tumors, but also offer other services. That should make them a one-stop-shop for tumors.

They also did a deal with another company that has a predictive test, I believe, for cancer. They're partnering with that company. The other one was an acquisition where they just bought the whole testing facility to expand their offerings in cancer.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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What's Going on With Fulgent Genetics? - The Motley Fool

Genetics

Genetics and the link to breast cancer | Mobile County Alabama News | fox10tv.com – FOX10 News

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Genetics

Outcomes4Me Partners with Invitae to Offer Genetic Testing to Breast Cancer Patients – Business Wire

BOSTON--(BUSINESS WIRE)--Outcomes4Me Inc., developer of a leading free mobile app and platform to navigate cancer treatment and care, today announced that it has partnered with Invitae Corporation (NYSE: NVTA), a leading medical genetics company, to expand education and access to genetic testing to breast cancer patients and survivors. The collaboration leverages the strengths of Invitae, which supplies clinical grade genetic testing, and Outcomes4Mes 360-degree, validated and evidence-based cancer support and treatment options via its free and easy-to-use app. Initially and currently available in the United States, patients can now receive genetic counseling through Invitaes partnership with Genome Medical, get testing, and upload their results within the Outcomes4Me app.

There is a misconception that genetic testing is only useful as a preventative tool prior to a cancer diagnosis. According to Outcomes4Me patient data, almost half of users (46 percent) who qualified for testing (based on NCCN Guidelines) did not receive testing or did not know if they had received testing. However, genetic testing can provide insights that can help inform and refine precision therapy use and clinical treatment trial enrollment. In addition, genetic testing results can be used to help prevent recurrence and reduce incidence of other inherited cancers.

A cancer diagnosis is often overwhelming for patients and their families. Outcomes4Me demystifies cancer by providing the most up-to-date and validated research, support, and treatment options, all grounded in science and data and curated according to the patients specific diagnosis. Outcomes4Me partners with the researchers, doctors, and academics that set the rigorous standards of cancer care for all treatment providers, including the National Comprehensive Care Network (NCCN), Vanderbilt-Ingram Cancer Center (VICC) and Massachusetts General Hospital (MGH). The collaboration with Invitae expands access to genetic testing, a vitally important tool in the patients cancer care arsenal.

Outcomes4Me is an indispensable platform for patients with breast cancer, giving them the personalized knowledge and access to timely new trials and targeted therapies that could lead to better health outcomes, said Ed Esplin, M.D., Ph.D., FACMG, FACP, Clinical Geneticist at Invitae. By providing access to our comprehensive genetic testing and counseling services, Outcomes4Me is adding a valuable resource that will empower patients to advance their knowledge, understanding, and therefore, self-advocacy during treatment and survivorship.

Unlike popular direct-to-consumer genetic testing services, which test for a few specific genetic variants for certain genes, Invitae provides state-of-the-art clinical grade next-generation sequencing-based (NGS) genetic testing that comprehensively analyses more than 80 genes, including all known mutations of the important BRCA1/BRCA2 genes. This comprehensive approach, combined with associated genetic counseling, not only provides insights for cancer patients, but also for family members who may be at risk.

Our collaboration with Invitae reinforces Outcomes4Mes mission to give patients back control, said Maya R. Said, Sc. D., Founder and CEO of Outcomes4Me. Because of this work with Invitae, our valued community now has rare direct access to a much-needed testing service. Outcomes4Me will proudly continue to democratize the best in cancer treatment, research, and support by removing barriers and bias in information flow.

The Outcomes4Me app is available free to users on both the App Store and Google Play.

About Invitae

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

About Outcomes4Me

Outcomes4Me is on a mission to improve health outcomes by empowering patients with understandable, relevant and evidence-based information. Outcomes4Me has developed a platform for shared decision-making between patients and providers. The platform harnesses regulatory-grade, real-world data and patient experiences generating deeper insights and better outcomes to improve care and accelerate research. The Outcomes4Me mobile app enables cancer patients to make decisions and take control of their care based on information that is personalized to their specific condition, including finding treatment options, matching to clinical trials, and tracking and managing symptoms. Based in Boston, Massachusetts, Outcomes4Me, a woman-led company, comprises seasoned healthcare, oncology, pharmaceutical, consumer and technology veterans. For more information, visit http://www.outcomes4me.com.

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Outcomes4Me Partners with Invitae to Offer Genetic Testing to Breast Cancer Patients - Business Wire

Genetics

Barriers Prevent Diversity Within Genetics Workforce, But Some Programs Aim to Bolster Representation – GenomeWeb

NEW YORK The lack of diversity within the genetics and genomics workforce not only means that it does not reflect the population it servesbut could also undermine patient care, according to a roundtable discussion organized by the National Academies of Sciences, Engineering, and Medicine.

This lack of diversity is particularly stark among genetic counselors where 90 percent of the workforce is white. Having the workforce better reflect the population it aims to serve the most recent US Census has found that an increasing proportion of the US population identifies as belonging to a minority group will also lead to better patient access and care.

"Having a diverse workforce is not just a nice thing to do," Sylvia Mann, the genomics section supervisor at the Hawaii State Department of Health, said during the roundtable presentations. "There is evidence that having a diverse workforce and student body is really supportive of services to underserved communities."

But there are a number of barriers to increased diversity, including a lack of exposure to the field, few role models, and a lack of support, according to the NASEM roundtable held this week. There are, though, ways to address some of those issues, such as through pathway programs, mentorship, and better reimbursement and pay for genetics professionals.

"Representation matters, and we have to invest in changing the professional profile of those involved in the genomics workforce," Altovise Ewing, a senior science leader at Genentech, added during the roundtable.

The past year has led to an increased focus on issues of diversity, equity, inclusion, and justice across society following the death of George Floyd and subsequent protests. This has prompted organizations like the American Association for the Advancement of Science to look into how to make both itself and the sciences more diverse. Similarly, the US National Human Genome Research Instituterecently announced an initiative to "adopt diversity as an ethos," especially in light of the field's past ties to eugenics.

However, the field has also had to grapple with current signs of overt racism, including incidents that led to the resignation of the outgoing president of the American College of Medical Genetics and Genomicsand theeditor-in-chief of the Journal of the American Medical Association.

The lack of diversity also has effects on patients, according to Ewing, limiting the reach of the benefits gained from genetics and genomics.

Because the workforce is predominately white, most genetic and genomic research has focused on a white, European-ancestry population and on research questions of concern to that population. Recent studies, for instance, have estimated that nearly 80 percent of individualsin genome-wide association studies have been of European ancestry. Such studies, when brought into the clinic, lead to unequal treatment of patients because less is then known about disease-associated variants that may be more common among other ancestry populations, which then affects professional and practice guidelines.

"This translates into inequities in opportunities for patients and families to engage in precision care, preventative screening, and innovative research options that will potentially stop diseases such as cancer in its tracks," Ewing said.

A more diverse workforce may identify research questions of interest and importance to different communities as well as lead to better communication with a diverse patient population through shared experiences and culture.

Addressing barriers

There are many known barriers to healthcare careers, Mann noted, including, for instance, a lack of exposure to fields like genetic counseling, a lack of role models or poor advising, and financial constraints, among others. Admission requirements like shadowing a genetic counselor or great reliance on MCAT scorescan also be a hindrance.

There are, though, ongoing programs aimed at addressing some of these barriers.

Omar Abdul-Rahman, the director of genetic medicine at the Munroe-Meyer Institute at the University of Nebraska Medical Center, for instance, is reaching out to high school students with the UNMC High School Alliance program.

Through the program, about 50 students a year spend about two hours a day on campus where they take classes taught by faculty and also spend about one afternoon a week learning about different career paths. The Omaha public schools are about 36 percent white, 25 percent Black, 26 percent Asian, and 6.5 percent Hispanic or Latino, according to Abdul-Rahman.

"We really need to think about getting that early exposure and going as early as possible because the effects of structural racism really start very, very early in the elementary and high school years," Abdul-Rahman said.

At the same time, Barbara Harrison, a genetic counselor at Howard University College of Medicine, added that pipeline programs linking, for instance, graduate programs in genetic counseling to historically Black colleges and universities or other undergraduate institutions serving underrepresented groups could help reach qualified applicants. She noted that though HBCUs represent 3percent of degree-granting institutions in the US, in 2013 they represented 17 percent of the colleges that supplied the most African American applicants to medical school.

Mentorship programs, Harrison noted, can also help interested college students who are not as familiar with the academic system to navigate the application process and its associated costs.

She added that the Genetics Opportunity Learning Development & Empowerment Networkis focused on increasing the number of Black genetic counselors by both raising awareness about the field and mentoring prospective applicants.

Hawaii's Mann added that programs should also try to ensure they are a safe space for minority students once they do arrive. "We get horrific stories about training programs and experiences in clinical rotations, and things like that are just bad for our minority students," she said.

Part of creating a safe space is to have institutional policies on diversity, equity, inclusion, and justice. This, Mann noted, is more than having an online training module about diversity but involves committing to open communication so students can discuss problems as well as having clear and transparent responses to any issues.

Having diverse faculty also helps to create a safe space, she added, noting that these faculty members can then be the next training program leaders. The Western States Regional Genetics Network, for which Mann serves as the project director, has a Minority Genetic Professionals Network for students, trainees, and professionals. In addition to its mentoring program, it also offers leadership training.

Overall, according to the American Society for Human Genetics' Chazeman Jackson, a roundtable moderator, there is a "societal imperative to bring diversity into genetics and genomics services, [and] the workforce must reflect the world we aim to serve and empower patients with agency. And if that doesn't happen, then we reduce our reach, we stifle our advancements, and we impede inclusion."

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