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

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

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

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

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

Biochemistry

Wednesday Nite at the Lab – Isthmus

press release: For the fall semester, WN@TL goes hybrid both with Zoom and with in-person presentations. The zoom registration link is still go.wisc.edu/240r59. Starting September 15, you can also watch a live web stream at biotech.wisc.edu/webcams

On November 17 we get a chance to unravel the knotty problem of how the class of chemicals called lignins help give the cell walls of plants (and especially trees) such remarkable strength in compression, tension, torsion and shear. John Ralph of Biochemistry and the Wisconsin Energy Institute will drill deep intoLignins: Intrigue and Controversies Surrounding a Little-KnownMajor Polymer.

Description:Lignin, comprising some 15-30% of plant biomass, is arguably the 2nd mostabundant terrestrial biopolymer, yet many have never heard of it (although the termlignocellulosics is now becoming more widespread). Its structure and biosynthesis areintriguing on many levels, and the theory of lignification has been delightfully controversial.Well attempt to highlight some of the intrigue with an emphasis on new findings that offerenhanced opportunities for exploiting Natures most abundant source of aromatics.

Bio:John Ralph is a Professor of Biochemistry at the University of WisconsinMadison and,since 2015, a Distinguished Professor of the Tokyo University of Agriculture and Technology.He obtained his B.Sc. (Hons) in Chemistry at Canterbury University, New Zealand, in 1976,and his Ph.D. in Chemistry/Forestry at the University of WisconsinMadison in 1982.

Ralphsgroup is recognized for its work on lignin biosynthesis, including delineation of the pathwaysof monolignol biosynthesis, lignin chemistry, and lignin reactions; particular interest is in thechemical/structural effects of perturbing lignin biosynthesis, and extensions of this work areaimed at redesigning lignins to be more valuable or more readily degraded. The group hasdeveloped synthetic methods for biosynthetic products, precursors, intermediates, molecularmarkers, cell wall model compounds, etc. It has developed methods for solution-state NMR oflignins, including whole-cell-wall methods that require no pre-fractionation of wallcomponents, and chemical/degradative, NMR, and GC-MS combinatorial methods for cellwall cross-linking mechanisms and cell wall structural analysis.

Ralph was elected as a Fellowof the American Association for the Advancement of Science (AAAS) in 2005, is on theEditorial Boards of five international journals, and has been named by the Institute forScientific Information as one of the 10 most cited authors in the plant and animal sciencesevery year since 2007.

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https://biochem.wisc.edu/faculty/ralph

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Wednesday Nite at the Lab - Isthmus

Biochemistry

Growth Prospects of Citric Acid Anhydrous Market: Business Outlook 2021-2026 by Cargil, ADM, Citrique Belge, Gadot Biochemical Industries,…

The report provides an in-depth analysis of the Global Market of Citric Acid Anhydrous. It presents the latest data of the market value, consumption, domestic production, exports and imports, and price dynamics. The Citric Acid Anhydrous market report shows the sales data, allowing you to identify the key drivers and restraints. You can find here a strategic analysis of key factors influencing the market. Forecasts illustrate how the market will be transformed in the medium term. Profiles of the leading players like Cargil, ADM, Citrique Belge, Gadot Biochemical Industries, Jungbunzlauer, Laiwu Taihe Biochemistry, etc. are also included.

Data Coverage in Citric Acid Anhydrous Market Report are:

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The Key Players Covered in Citric Acid Anhydrous Market Study are:

Segmentation Analysis:

Citric Acid Anhydrous market is split by Type and by Application. For the period 2016-2026, the growth among segments provides accurate calculations and forecasts for sales by Type and by Application in terms of volume and value. This analysis can help you expand your business by targeting qualified niche markets.

Market Segmentation by Type:

Market Segmentation by Applications:

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The report offers valuable insight into the Citric Acid Anhydrous market progress and approaches related to the Citric Acid Anhydrous market with an analysis of each region. The report goes on to talk about the dominant aspects of the market and examine each segment.

The Citric Acid Anhydrous market report gives CAGR value, Industry Chains, Upstream, Geography, End-user, Application, Competitor analysis, SWOT Analysis, Sales, Revenue, Price, Gross Margin, Market Share, Import-Export, Trends, and Forecast. The report also gives insight into the entry and exit barriers of the industry.

Global Citric Acid Anhydrous Market Report Scope:

The report offers a complete company profiling of leading players competing in the global Citric Acid Anhydrous market with a high focus on the share, gross margin, net profit, sales, product portfolio, new applications, recent developments, and several other factors. It also throws light on the vendor landscape to help players become aware of future competitive changes in the global Citric Acid Anhydrous market.

Target Audience of the Global Citric Acid Anhydrous Market in Market Study:

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Major Points from Table of Contents

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Growth Prospects of Citric Acid Anhydrous Market: Business Outlook 2021-2026 by Cargil, ADM, Citrique Belge, Gadot Biochemical Industries,...

Biochemistry

Improving Investment in Women’s Health Research, Health Care | Chicago News | WTTW – WTTW News

Just a fraction of research funds into Alzheimers, heart disease, and autoimmune disease goes toward women, even though they disproportionately face those ailments.

Thats according toa new report from the group Womens Health Access Matters, which found that a $300 million dollar investment into research focused on women would yield a $13 billion economic return in reduced healthcare costs, better quality of life, and years of productivity returned to the workforce.

Nicole Woitowich, research assistant professor of medical social sciences at Northwestern Universitys Feinberg School of Medicine, says that research subjects have historically been male whether they were humans, or other animals like mice and rats.

It wasnt until 1993 through, literally, an act of Congress the NIH Revitalization Act that women were required to be included in National Institutes of Health-funded clinical research studies, said Woitowich, who holds a PhD in biochemistry and molecular biology. But then it wasnt again until 2016 when the NIH developed a mandate to require investigators consider sex as a biological variable.

Dr. Vineet Arora, dean for medical education at the University of Chicagos Pritzker School of Medicine, says just one recent example was the fact that pregnant and breastfeeding people were excluded from COVID-19 vaccine trials.

We have great data now to show that, in fact, the COVID vaccine is very important for pregnant people (and) people who are breastfeeding. Its actually protective against severe COVID, as well as protective for newborns because you can pass on antibodies. We didnt know that initially, and that lack of information gave opportunity for misinformation to arise, Arora said.

Woitowich says when investigators dont analyze data by sex, its leaving knowledge on the table. She cites a recent study of glioblastoma treatment that broke down how male and female patients were responding.

They found that males were responding more poorly to treatment than women. That brought up a whole new question: why is this actually happening, and how can we tailor our therapies to be beneficial for both sexes and improve the health of everyone? This is not just a matter of looking at reproductive health or hormonal health. This is analyzing data in all body systems, Woitowich said.

In addition to biases and oversights in research and healthcare, there are also gender disparities throughout the medical workforce persistent salary gaps, lack of maternity leave, expectations that disadvantage women who care for children or elders.

Until I started talking to other women, (I didnt know) that the challenges I faced were not because I wasnt good enough, or I wasnt smart enough, or I wasnt accomplished enough, said Dr. Shikha Jain of the University of Illinois Cancer Center. These women were amazing and way more accomplished than me (and) had very similar experiences to ones I had.

Arora says its important recognize the way that inequities and biases can contribute to women in healthcare burning out an issue even before the COVID-19 pandemic.

We need to start thinking about this as a problem that needs a concerted effort to address gender equity at all levels of an institution, particularly for mentoring and sponsoring women to move up the chain, and making sure they have opportunities, Arora said.

Its a question of changing the health care infrastructure designed before women joined the workforce, says Jain. Shes also the founder and president of the nonprofit Women in Medicine, which hosts conferences and leads trainings in an effort to close the gender gap in healthcare.

Theres a lot of women who dont achieve their full potential, not because they arent good enough in actuality theres a system set up to prevent them from getting to the level they could get to, Jain said. We need to take the onus away from the women. It needs to be everybody having these discussions and bringing these issues up.

Link:
Improving Investment in Women's Health Research, Health Care | Chicago News | WTTW - WTTW News

Biochemistry

People and Places at Penn: Homecoming | Penn Today – Penn Today

Penn students are encouraged to engage with the wider world, to be curious about their passions. In the case of the six alumni profiled here, the wider world eventually led them back to Penn. These alumni share their favorite campus spotsand how they found their niche, whether the road was slow and steady or circuitous and surprising.

Several alumni, like Brian Peterson of Makuu and Heather Calvert of mindCORE, pursued advanced degrees while working for the University. As an athlete and anthropology major, Alanna Shanahan chose Franklin Field and the Penn Museum as her favorite spots. Chaz Howard is energized by the intellectual life at W.E.B. Du Bois College House and contemplates major life decisions at the BioPond. Craig Carnaroliwho climbed up the Benjamin Franklin statue to take a picture with the founder on graduationis undergoing a second education at Penn, in addition to his Wharton degree. Kushol Gupta, wearing two hats, serves as both assistant director of the Penn Band and studies drugs that target HIV.

For many in the Penn community, campus rhythms have become intertwined with family life. Carnaroli, Peterson, Gupta, and Howard all met their partners at PennGupta proposed to his wife in Hill College House, her freshman dorm. Calvert recalls the Penn Relays playing while she was in the maternity ward after the birth of her son. One thing I really like about Penn is it feels like theres a unique set of seasons, Calvert says: the dynamic energy of Move-In, the crunch of autumn leaves and dim rumble of leaf-blowing, the holiday decorations, the calm during Winter Break, the sprucing-up that happens in spring: mulching and painting. Your seasons are marked by the ebb and flow, she says. Throughout the changes, here are the spots these alumni have chosen as touchstones.

I spent many an hour on Franklin Field as an undergraduate, says Alanna Shanahan, who graduated from Penn in 1996. She was a lacrosse midfielder, and spring training would start on Feb. 1. If it snowed, the field would be plowed and the coaches would incorporate the huge mounds of snow into their drills, Shanahan remembers. Often we had practices at night, so youre out there and its freezing, she says. Just some of the memories created through those moments where youre like, Oh my goodness, are we going to get through this?

Franklin Field is now one of her favorite Penn places, along with the Penn Museum, where she spent time as an anthropology major. Later, she had her wedding reception in the rotunda.

Shanahan, who is now the T. Gibbs Kane, Jr. W69 Director of Athletics and Recreation, was not someone who went through Penn with a grand plan, she says. As a student-athlete with a part-time job, I was always running from one thing to the next. Shanahan started working in the athletics department after graduation and earned first her masters degree and then a doctorate in higher education administration from the Graduate School of Education.

As her career blossomed, Shanahan discovered that she also enjoyed being a part of a professional team and providing people with transformative opportunities. I am absolutely someone who loves watching people and organizations advance and grow, she says. As an athlete, she loved the aspiration of a common goal. As athletics director, Shanahan is still pushing through the tough days, supporting her teammates, and working toward a greater whole.

Brian Peterson is the director of Makuu: the Black Cultural Center, housed in the ground floor of the ARCH building, one of Petersons favorite spots. While doing his undergraduate work at Penn (Peterson graduated with a degree in engineering), the ARCH building housed a restaurant called the Palladium. I never went there, he says. The restaurant was in the center of campus, with the castle, and all the frats. It was like passing through something that wasnt really yours.

Now, he says, Theres so much that happens here: Sister, Sister and Black Men United [both discussion groups], Makuus open house, Penn Spectrum events. Having Makuu be in the middle of campus is representative of the work we do; how important it is.

Makuus Kwanzaa celebration is traditionally held in Houston Halls Hall of Flags, currently being used for COVID testing, which Peterson loves for its Harry Potter feel.

Kwanzaa is a great way to close out the semester, he says. The event ushers students into the finals period with a positive affirmation, Peterson says. We nourish you with food and have a great cultural reminder for why you are here.

Chaz Howard carries in his pockets a clean, white handkerchief and a Russian icon of Jesus on his phone. As University Chaplain and University vice president for social equity & community, Howard has need for both. As he paces the paths encircling the BioPond, he is constantly greeted by warm nods and playful banter. Everyone wants to say hello, to elicit a smile, to reach out, to connect. Yet for Howard, the BioPond is often a place of meditation, of reflection. Before any big decision, he says, I came here to pray.

The BioPond is a bit hidden, tucked away on campus, but thats part of its appeal, Howard says.

It was here he decided to proposed to his wife, here he decided to accept the call to go to divinity school, here he decided to accept the offer to become University vice president for social equity & community, a position with added responsibility and weight for the father of three.

Howard first arrived as a freshman on campus in 1996. He lived at W.E.B. Du Bois College House, where he felt excited and moved by the Black intellectual life he found there, discussions on slavery, leadership, and political activism, often organized by classmates. Howard ultimately chose to double major in urban studies and Africana studies, motivated by his passion and curiosity. In his senior year, he decided to further his studies to become a chaplainand also to reach out to his good friend Lia to tell her, right before leaving, that he was falling in love. I kind of put that on her, he says. My timing was terrible. But like any of Howards decisions, it was not without careful reflection. Howard and Lia stayed in touch. After a few years, and a few more walks around the BioPond, she became his wife.

After graduating in 1994, Kushol Gupta had friends clear the 5th floor balcony at Hill College House, waited for his girlfriend to arrive, and proposed. Kids nowadays wouldnt dare do that at 22, but back then, we knew, he says. Gupta, research assistant professor of biochemistry and biophysics in the Perelman School of Medicine, met his wife, now an ER veterinarian, in the Penn Band where he played trombone, she clarinet.

When he first came into Penn, Gupta thought he would major in science, but then started taking music classes. The moment I got of hit of it, I just wanted more, he says. Gupta ended up double-majoring in biochemistry and music. It became a part of who I was, he says. And then I never really left the band. Gupta is now the Bands assistant director, and one of its many passionate advocates. To join, all you need is a passion and a pulse, he says. We teach you the rest.

On March 5, 2020, Kushol Gupta was in his element: with the Band, at the Palestra, watching A.J. Brodeur surpass Penns career scoring record. This was also the same night HUP documented its first COVID case, Gupta recalls, foreshadowing the pandemic shutdown and the end of March Madness. We were already cleaning surfaces and started using elbow bumps.

It was then that his two hats came in handy. With his scientific background, Gupta became deeply involved, translating medical language into vernacular, helping the performing arts community at Penn implement new ways to keep students safe while continuing to make music. (Making recordings virtually was a challenge.) If Gupta could teach a tone-deaf kid to play the tuba, he could figure out how to play through a pandemic.

One thing I try to do every year is go to Commencement, says Heather Calvert, executive director of mindCORE, an interdisciplinary research center for studying the mind. My son was born April 28, 2005, during the Penn Relays. And I was on maternity leave during graduation, but I pushed him in a stroller from my home in West Philly to go to Commencement, she says. It ended up being the first time Calvert breastfed him out of her house, a weird new mom moment, she says.

The next year, when her son was 1, Calvert pushed him through campus on the way to drop him off at Penn Childrens Center and stopped to watch the parade. He was wearing a Penn sweatshirt and I remember these graduating seniors who were like Hey, this will be you someday, little buddy. It was a touching moment and one that brought her into the pageantry of the event. I love when the band plays on the Button. I love the speeches. I love all the proud parents, Calvert says. As both a staff member and alum, the ebb and flow of campus has become tied up with her family life, Calvert says.

Calvert graduated from the Fels Institute of Government with a masters in public administration in 2015. It was hard to have a family and work full-time and go to school, she says. Fels held their graduation ceremony in the garden, and it was a meaningful accomplishment for Calvert with her parents in attendance, especially as she didnt walk after earning a B.A. from Villanova in 1992.

Claes Oldenburgs Split Button sculpture is another tie to campus life for Calvert. She would walk through campus to drop her son off at daycare and he would want to get out of the stroller to play on the sculpture. During the early part of the pandemic, when everything was shut down and quiet, Calvert and a friend who walked daily with Calverts foster dog from the Working Dog Center, stopped to take a picture while walking through campus: dog, son, friendeveryone at the Button. We were all a little depressed and freaked out, but it felt grounding in some sense to be back on campus, she says, a little bit of constancy in the midst of so much uncertainty.

Senior executive vice president Craig R. Carnaroli vividly remembers the day he got a call from President Amy Gutmanns office. I think theres a tree growing out of the chimney at 38th and Locust, he remembers her saying. She was right, he says. It spurred us into how to reimagine that location. That location turned into what is now Perry World House, which recently celebrated its fifth anniversary. He loves the public lectures and the open space that invites everyone in, offering an education that extends beyond the classroom, Carnaroli says.

There is no typical day at Penn, where a conversation about building maintenance can lead to a world-renowned policy hub, Carnaroli says. The strength of Penn is the people, from top to bottom. People really buy into the mission of what were trying to achieve.

Carnaroli, who graduated from the Wharton School in 1985 as a finance and economics major, is currently undertaking what he calls my second education at Penn, in that I continue to learn a lot on the job. Thats because I have great colleagues, and because of the culture here, the collaboration, he says.

At his graduation, Carnaroli and his closest friends climbed up the Benjamin Franklin statue on College Green to take a picture. We were admonished by our parents and the onlookers, he notes. That statue continues to serve as an inspiration point. What Franklin wanted in a university, I think weve all worked together to make sure that vision was realized: an education that improved society and the world.

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People and Places at Penn: Homecoming | Penn Today - Penn Today

Biochemistry

Futuristics Overview of Citric Acid Anhydrous Market: Industry Insights and Forecast 2021-2026 by Cargil, ADM, Citrique Belge, Gadot Biochemical…

The Citric Acid Anhydrous market report provides a detailed analysis of global market size, regional and country-level market size, segmentation market growth, market share, competitive Landscape, sales analysis, the impact of domestic and global market players like Cargil, ADM, Citrique Belge, Gadot Biochemical Industries, Jungbunzlauer, Laiwu Taihe Biochemistry, etc., value chain optimization, trade regulations, recent developments, opportunities analysis, strategic market growth analysis, product launches, area marketplace expanding, and technological innovations.

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Citric Acid Anhydrous Market Segmentation:

Citric Acid Anhydrous market is split by Type and by Application. For the period 2016-2026, the growth among segments provides accurate calculations and forecasts for sales by Type and by Application in terms of volume and value. This analysis can help you expand your business by targeting qualified niche markets.

Citric Acid Anhydrous Market Report based on Product Type:

Citric Acid Anhydrous Market Report based on Applications:

The key market players for global Citric Acid Anhydrous market are listed below:

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TABLE OF CONTENTS INCLUDE

Consumption Forecast, Market Opportunities & Challenges, Risks and Influences Factors Analysis, Market Size by Application, Market Size by Manufacturers, Market Size by Type, Citric Acid Anhydrous Consumption by Regions, Citric Acid Anhydrous Production by Regions, Production Forecasts, Value Chain and Sales Channels Analysis, Key Findings in the Global Citric Acid Anhydrous Study, Manufacturers Profiles

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Impact of COVID-19 on Citric Acid Anhydrous Market

The report also contains the effect of the ongoing worldwide pandemic, i.e., COVID-19, on the Citric Acid Anhydrous Market and what the future holds for it. It offers an analysis of the impacts of the epidemic on the international Market. The epidemic has immediately interrupted the requirement and supply series. The Citric Acid Anhydrous Market report also assesses the economic effect on firms and monetary markets. Futuristic Reports has accumulated advice from several delegates of this business and has engaged from the secondary and primary research to extend the customers with strategies and data to combat industry struggles throughout and after the COVID-19 pandemic.

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We provide a premium in-depth statistical approach, a 360-degree market view that includes detailed segmentation, key trends, strategic recommendations, growth figures, Cost Analysis, new progress, evolving technologies, and forecasts by authentic agencies.

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Futuristics Overview of Citric Acid Anhydrous Market: Industry Insights and Forecast 2021-2026 by Cargil, ADM, Citrique Belge, Gadot Biochemical...