National Human Genome Research Institute

BETHESDA, Md., Oct. 23, 2024 /PRNewswire/ -- The National Institutes of Health (NIH) has launched a proof-of-concept precision medicine clinical trial to test new treatment combinations targeting specific genetic changes in the cancer cells of people with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). The trial, funded by NIH's National Cancer Institute (NCI), aims to accelerate the discovery of more tailored treatments for these aggressive cancers of the blood and bone marrow. Continue Reading The precision medicine trial aims to match patients to treatments based on the genetics of their cancer. Credit: National Human Genome Research Institute "NCI is uniquely positioned to conduct this type of study, which is one of a series of NCI precision medicine trials that are helping pave the way for more personalized treatment of cancer," said W. Kimryn Rathmell, M.D., Ph.D., director of NCI. "By making these trials available to patients in communities around the country, we bring cutting edge science to people where they live and ensure that what we learn from our study participants can benefit patients like them in the future." "AML and MDS are a heterogeneous group of cancers that can progress very quickly. Treatment advances depend in part on the ability to rapidly identify which subtype of cancer each patient has so that treatments can be tested for their specific cancer," said Richard F. Little, M.D., of NCI's Division of Cancer Treatment and Diagnosis. Dr. Little is the NCI coordinator for the trial, known as the Myeloid Malignancies Molecular Analysis for Therapy Choice (myeloMATCH). "The goal of myeloMATCH is to test combinations of drugs to treat the disease in a highly targeted way and to be able to start treatment quickly after diagnosis." Initially, people enrolled in the trial with newly diagnosed AML or MDS will undergo rapid genetic testing of their tumor samples. Based on the molecular characteristics of their tumors, they will be matched to a substudy testing a treatment appropriate for the specific genetic changes and characteristics associated with their disease, if one is available, or to standard treatment if an appropriate substudy is not available. If the initial treatment works to reduce a patient's disease, they will undergo further genetic testing to match them to a subsequent substudy testing a treatment that is appropriate for the specific genetic changes associated with their remaining disease. As the amount of a patient's disease decreases, study investigators will use increasingly sensitive tools, such as biomarker assays, to identify appropriate treatments for any remaining cancer cells. The myeloMATCH trial aims to enroll several thousand people within the first few years, with new substudies rolled out over time. Blood and bone marrow samples collected from participants during the course of the trial will be used to develop and refine the assays, as well as understand what genetic changes might be associated with the development of resistance to a treatment. myeloMATCH is being conducted by the National Clinical Trials Network, with the participation of the NCI Community Oncology Research Program (NCORP). Initial substudies will be led by the SWOG Cancer Research Network, the Alliance for Clinical Trials in Oncology, the ECOG-ACRIN Cancer Research Group, and the Canadian Cancer Trials Group. The Frederick National Laboratory for Cancer Research, Fred Hutch Cancer Center, and Children's Hospital Los Angeles will provide clinical laboratory support for the substudies. myeloMATCH is one of three next-generation precision medicine trials that NCI has under way. ComboMATCH is testing the effectiveness of treating adults and children who have relapsed solid tumors with new drug combinations that target specific tumor alterations. ImmunoMATCH has launched a pilot study to determine whether prospective characterization of the immune status of a tumor can be used to improve the response to targeted immunotherapy treatments, with plans to expand to larger studies in the future. All three trials are successors to NCI-MATCH, NCI's groundbreaking precision medicine clinical trial, which showed that people with advanced cancer may benefit from genomic sequencing to help plan their treatment. "When President Biden and the First Lady re-ignited the Cancer Moonshot, they set two clear goals: To prevent more than 4 million cancer deaths by 2047 and to improve the experience of people who are touched by cancer," said Danielle Carnival, deputy assistant to the President for the Cancer Moonshot. "To achieve that goal, the U.S. government is working to expand access to innovative trials like this one, bring targeted new treatments to patients, and, ultimately, save lives." Learn more about myeloMATCH and the substudies that are currently open. About the National Cancer Institute (NCI): NCI leads the National Cancer Program and NIH's efforts to dramatically reduce the prevalence of cancer and improve the lives of cancer patients and their families, through research into prevention and cancer biology, the development of new interventions, and the training and mentoring of new researchers. For more information about cancer, please visit the NCI website at or call NCI's contact center, the Cancer Information Service, at 1-800-4-CANCER (1-800-422-6237). About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit nih.gov. SOURCE NATIONAL CANCER INSTITUTE WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

23andMe, National Human Genome Research Institute, and Johns Hopkins University conducted collaborative research that studied sickle cell trait in a diverse population SUNNYVALE, Calif., Sept. 12, 2024 (GLOBE NEWSWIRE) -- 23andMe Holding Co. (Nasdaq: ME) (23andMe), a leading genetic health and biopharmaceutical company, in collaboration with lead researchers at National Human Genome Research Institute, part of the National Institutes of Health (NIH), and Johns Hopkins University, conducted one of the largest and most diverse studies on sickle cell trait (SCT). Many prior SCT research studies have only focused on Black/African American populations. This collaborative research leveraged 23andMe’s diverse cohort of research-consented participants. The researchers studied the association of sickle cell trait with venous thromboembolism (VTE) (blood clots) and compared this degree of risk to factor V Leiden (FVL). The results from the study were published today in the journal Blood Advances . Sickle cell trait and sickle cell disease Sickle cell disease is a global public health issue. Individuals with sickle cell disease (SCD) have two genes that cause the production of sickle hemoglobin, and these patients can have severe pain and other organ complications Individuals with sickle cell trait (SCT) carry only one gene that causes the production of sickle hemoglobin, and these individuals are generally healthy. However, SCT can be a risk factor for select health outcomes such as blood clots. One hundred million people worldwide have sickle cell trait. In the United States, three million people have sickle cell trait, and it disproportionately affects the Black community. However, sickle cell trait and sickle cell disease aren’t just a Black issue. Individuals in all communities can have sickle cell trait. This study found that sickle cell trait is a modest risk factor for blood clots across populations. “This study uniquely demonstrates that sickle cell trait’s association with blood clots extends across diverse genetic backgrounds,” said Keng-Han Lin, Ph.D., a Senior Scientist at 23andMe and a co-author of the paper. “It highlights how comprehensive genetic research can reveal health risks relevant to all communities.” Collaborative and diverse sickle cell trait study Most prior sickle cell trait studies have been limited to the Black community because many assume SCT occurs only in a specific race or population. Combining those assumptions with systemic racism can lead to bias. “The power of the 23andMe platform is that it enables research that’s inclusive of communities historically underrepresented in genetics research at an unprecedented scale. This diversity can help uncover novel biology and can also dispel misconceptions,” said Anjali Shastri, Ph.D., a Principal Program Manager at 23andMe who leads research equity programs and advocacy partnerships for research and is a co-author of the study. With this collaborative study, researchers at National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), Johns Hopkins University (JHU), and scientists at 23andMe sought to better understand the connection between sickle cell trait and blood clots. The study was one of the largest sickle cell trait studies to date, leveraging 4.2 million 23andMe research-consented participants, which included 19,000 with SCT. The researchers studied the associations with venous thromboembolism (VTE). To contextualize SCT and VTE, the researchers also studied the association of factor V Leiden and VTE. The study also looked at different types of blood clots: deep vein thrombosis (DVT), which forms in a deep vein like in the legs, and pulmonary emboli (PE), which are caused by blood clots that travel to the lungs. Sickle cell trait study results Study results validated the association of sickle cell trait with blood clots. However, the study found that individuals with sickle cell trait are at a lower risk for VTE than carriers of factor V Leiden. The study also validated the association between having SCT and with developing pulmonary emboli (PE), and it similarly validated that sickle cell trait was not associated with developing deep vein thrombosis (DVT). This pattern of blood clots was the opposite of that found in FVL. In individuals with FVL, the risk of DVT was greater than the risk of PE. “This study suggests a unique mechanism of blood clotting in people with sickle cell trait,” said Rakhi Naik, M.D., M.H.S., Clinical Director for the Division of Hematology at Johns Hopkins University, who co-led the study. “Knowing the risks of blood clots in people with sickle cell trait is important for situations such as surgeries or hospitalizations, which add to the risk of developing serious blood clots.” In addition to suggesting novel biology for individuals with sickle cell trait in the development of PE, this study may inform clinical care. “This study provides valuable information to clinicians counseling individuals with sickle cell trait,” said Julie Granka, Ph.D., a Principal Scientist at 23andMe and a co-author of the paper. “Our study results are applicable across ancestries, and they show valuable comparisons to Factor V Leiden, where there is more established clinical guidance. Notably, the risk of VTE for individuals with SCT is lower than for those with Factor V Leiden.” About 23andMe 23andMe is a genetics-led consumer healthcare and biopharmaceutical company empowering a healthier future. For more information, please visit . Forward-Looking Statements This press release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended, including. All statements, other than statements of historical fact, included or incorporated in this press release are forward-looking statements. The words “believes,” “anticipates,” “estimates,” “plans,” “expects,” “intends,” “may,” “could,” “should,” “potential,” “likely,” “projects,” “predicts,” “continue,” “will,” “schedule,” and “would” or, in each case, their negative or other variations or comparable terminology, are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. These forward-looking statements are predictions based on 23andMe’s current expectations and projections about future events and various assumptions. 23andMe cannot guarantee that it will actually achieve the plans, intentions, or expectations disclosed in its forward-looking statements and you should not place undue reliance on 23andMe’s forward-looking statements. These forward-looking statements involve a number of risks, uncertainties (many of which are beyond the control of 23andMe), or other assumptions that may cause actual results or performance to differ materially from those expressed or implied by these forward-looking statements. The forward-looking statements contained herein are also subject generally to other risks and uncertainties that are described from time to time in the Company’s filings with the Securities and Exchange Commission, including under Item 1A, “Risk Factors” in the Company’s most recent Annual Report on Form 10-K, as filed with the Securities and Exchange Commission, and as revised and updated by our Quarterly Reports on Form 10-Q and Current Reports on Form 8-K. The statements made herein are made as of the date of this press release and, except as may be required by law, 23andMe undertakes no obligation to update them, whether as a result of new information, developments, or otherwise. 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Survey reveals nearly three-quarters of U.S. adults support using emerging technology to screen embryos during IVF for risk of developing certain health conditions or traits that arise from more than one gene. Only about one-third of respondents approved of using the technology to predict traits unrelated to disease. Nearly all expressed concerns about potential negative outcomes for individuals or society. Findings underscore need for public education about benefits, limitations, ethical hazards of polygenic risk scores for embryos. Three out of four U.S. adults support the use of emerging technologies that estimate a future child's likelihood of developing health conditions influenced by multiple genes -- such as diabetes, heart disease, and depression -- before an embryo is implanted during in vitro fertilization (IVF), according to a new public opinion survey led by researchers at Harvard Medical School. Results of the survey, to be published May 14 in JAMA Network Open, underscore the need for public education and conversation about the positive and negative implications of these ethically fraught technologies, the researchers said. Although the approach, known as polygenic embryo screening, is not yet available in most IVF clinics, a few companies have begun offering such estimates -- or risk scores -- to gauge disease risk, the researchers noted. "Polygenic embryo screening is largely unregulated in the United States, and without proper context and focused patient education, risk scores can create false expectations," said first author Rémy Furrer, research fellow in bioethics in the Department of Global Health and Social Medicine in the Blavatnik Institute at HMS. "This survey rings the alarm that geneticists, behavioral scientists, bioethicists, clinicians, and genetic counselors need to work together to figure out ways to communicate the limitations to people, so they understand what polygenic risk scores do and don't provide," he said. Nearly three-quarters of respondents said they support using such screening to assess the risk of a future child developing a physical or psychiatric condition, such as heart disease, diabetes, or depression -- but that number dropped when people were first presented with various concerns for individuals and society. Far fewer respondents approved the use of the technology to predict traits unrelated to disease, such as intelligence, height, and skin color. The results suggest that educating people better about the current shortfalls and implications -- including regulating the promises that companies can make -- will temper optimism and help ensure that as these technologies develop, they will be implemented in scientifically sound, ethical, and equitable ways, the authors said. How accurate are polygenic risk scores? Up until now, patients undergoing IVF could choose which embryos to implant based on DNA tests that detect chromosomal abnormalities, such as Down syndrome, and diseases caused by mutations in a single gene, such as cystic fibrosis. Such screening, known as preimplantation genetic testing, is well-established and widely used. By contrast, polygenic embryo screening estimates probabilities for conditions and traits influenced by many gene variants that each raise or lower risk by a small amount. Experts disagree on how useful this technology might become in the future, but at present there are clear limitations to accuracy, Furrer said. Polygenic conditions arise from different combinations of genes, environment, and behaviors in ways that aren't yet fully understood. The American College of Medical Genetics and Genomics has said that polygenic embryo screening is not yet suitable for clinical use. This gap between the state of the science and the growing availability of such tests compelled Furrer and colleagues to conduct the survey. They hope the results inspire professionals to advocate for more informed dialogue and guidance around these technologies. "The complexities and limitations of polygenic risk scores are challenging to convey." Furrer said. "But we need to do so to ensure that people understand the high level of uncertainty that comes with estimating these risks." By the numbers The survey drew from the team's interviews with IVF patients and reproductive health specialists. Questions included lists of conditions, traits, and potential repercussions that participants were asked to weigh in on. The survey also made clear that polygenic risk scores could be used simply for information, to prepare for a future child, or to select an embryo for implantation. The first part of the study surveyed more than 1,400 participants representing the wider U.S. population in age, gender, and race/ethnicity. It was conducted between March and July 2023. Findings showed that: Approval was higher for using risk scores to prepare for a child than to select an embryo. Positives and negatives The second part of the study, conducted from March 2023 to February 2024 with about 200 respondents, placed the list of potential concerns at either the beginning or the end of the survey. The concerns were: In the second survey, respondents given the list at the start reported lower overall approval (28 percentage points less) and more uncertainty (24 percentage points higher) about polygenic embryo screening than those who saw the list at the end -- a finding that speaks to the importance of education and framing the public conversation. How to find the right balance Some of the survey results are nuanced, the authors note, and should not be taken as unqualified public support or rejection of polygenic embryo screening. "These findings offer an initial glimpse into public opinion, predicated on a limited presentation of the technology," said Furrer. "Future research must explore how opinions evolve." For instance, the team recommends further research into what it means that a majority of respondents approved of polygenic screening for selecting embryos but also expressed strong concerns about sliding into eugenics. It will also be important to examine the role that personal and group values, such as reproductive freedom and autonomy, play in shaping public attitudes, the authors said. The authors conclude that the work underscores the need to inform not only the public and IVF patients but also clinicians and genetic counselors, who need to be prepared to answer the rising tide of questions about the potential benefits, present limitations, and concerns surrounding polygenic embryo screening. Authorship, funding, disclosures Additional authors are Dorit Barlevy, Stacey Pereira, Shai Carmi, Todd Lencz, and principal investigator Gabriel Lázaro-Muñoz, assistant professor of psychiatry in the Center for Bioethics and Department of Global Health and Social Medicine at HMS. This work was supported in part by the National Human Genome Research Institute at the National Institutes of Health (grant R01-HG011711). The funder had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, and approval of the manuscript; and decision to submit the manuscript for publication. All authors reported receiving NIH grants during the conduct of the study. Carmi also reported receiving personal fees from MyHeritage outside the submitted work.