https://medicalxpress.com/ en-us provides the latest news from American Society of Human Genetics Human genetics and genomics contributed $265 billion to the U.S. economy in 2019 and has the potential to drive significant further growth given major new areas of application, according to a new report issued today by the American Society of Human Genetics (ASHG). The findings indicate that this research and industry sector has seen its annual impact on the U.S. economy grow five-fold in the last decade and outlined at least eight areas of expanding impact for human health and society. ASHG commissioned and funded the report and is grateful for generous additional contributions from Invitae and Regeneron. Neither company had any direct input into the analyses or report content. https://medicalxpress.com/news/2021-05-annual-economic-impact-human-geneticsgenomics.html Wed, 19 May 2021 10:11:32 EDT news540637889 An international team of researchers who identified genetic variants associated with reproductive success say their findings could highlight mechanisms underlying fertility and infertility. In addition, their analyses detected genetic alleles under present-day selection, providing an insight into the nature of ongoing natural selection in humans. Iain Mathieson, Ph.D., a population geneticist at the University of Pennsylvania, presented the results of the study at the American Society of Human Genetics 2020 Virtual Meeting. https://medicalxpress.com/news/2020-10-genetic-fertility-ongoing-natural-humans.html Thu, 29 Oct 2020 13:04:07 EDT news523195418 The COVID-19 pandemic is a global health crisis. Insights into why some people develop more severe symptoms than others and how to better treat the disease are desperately needed. The COVID-19 Host Genetics Initiative was created to study the relationship between variation in the human genome and SARS-CoV-2 infection. This is an ongoing, international, collaborative effort to learn the genetic determinants of COVID-19 susceptibility, severity, and outcomes. Andrea Ganna, Ph.D., EMBL-group leader at the Institute for Molecular Medicine Finland and an instructor at Harvard Medical School and Massachusetts General Hospital, presented the results of the initiative's first genome-wide association studies and follow-up analyses at the American Society of Human Genetics 2020 Virtual Meeting. https://medicalxpress.com/news/2020-10-results-covid-host-genetics-ashg.html Thu, 29 Oct 2020 04:11:27 EDT news523163483 With the COVID-19 pandemic still raging worldwide, members of the American Society of Human Genetics (ASHG) are working to understand how the virus spreads and infects people, why there is so much variability in susceptibility and severity, and where to look for potential therapeutics. Researchers presented the results of several studies relevant to the current pandemic at the ASHG 2020 Virtual Meeting. https://medicalxpress.com/news/2020-10-genetics-covid-pandemic.html Thu, 29 Oct 2020 04:10:40 EDT news523163432 Although a recent campaign by Cancer Research UK emphasized obesity as a risk factor for cancer on par with smoking, the scientific literature on the relationship between increased weight and cancer risk is not so clear. In a new analysis, researchers from Brunel University London found that increasing weight is causally protective for breast and prostate cancer. Hasnat Amin, BSc, a doctoral student at Brunel University London, presented the results of the study at the American Society of Human Genetics 2020 Virtual Meeting. https://medicalxpress.com/news/2020-10-genetic-predisposition-weight-breast-prostate.html Mon, 26 Oct 2020 14:50:01 EDT news522941579 Researchers announce the first robust evidence for the role of the major histocompatibility complex gene HLA-B in penicillin allergy. To identify genetic risk factors for penicillin allergy, the international team of researchers harnessed self-reported data and the electronic health records of more than 600,000 people, as well as replicating their findings in two independent research cohorts involving more than 1 million individuals. Kristi Krebs, Ph.D., of the University of Tartu in Estonia, presented the results of the study at the American Society of Human Genetics 2020 Virtual Meeting. https://medicalxpress.com/news/2020-10-insights-genetic-architecture-penicillin-allergy.html Mon, 26 Oct 2020 14:33:26 EDT news522941604 Women with the onset of breast cancer over age 65 often do not qualify for genetic testing, yet little is known about the frequency of disease-causing mutations in breast cancer predisposition genes in this population. In a new study, researchers investigated the prevalence of disease-causing variants in established breast cancer predisposition genes and estimated the remaining lifetime risk of breast cancer in women over age 65. The researchers hope these findings could help address the controversy of who should qualify for genetic testing. Nicholas Boddicker, Ph.D., a research associate at the Mayo Clinic, presented the results of the study at the American Society of Human Genetics 2020 Virtual Meeting. https://medicalxpress.com/news/2020-10-breast-cancer-disease-causing-mutations-women.html Mon, 26 Oct 2020 14:33:20 EDT news522941597 Short fragments of cell-free DNA (cfDNA) that circulate in blood, urine, and other biofluids can offer an information-rich window into human physiology and disease. By looking at the methylation markers of cfDNA, researchers can identify the tissue from which the DNA came. A new study used this method to monitor infectious and immune-related diseases, including COVID-19 infection, and demonstrate the potential clinical applications of this technology. Alexandre Cheng, BSc, a doctoral student in biomedical engineering at Cornell University, presented the results of the study at the American Society of Human Genetics 2020 Virtual Meeting. https://medicalxpress.com/news/2020-10-cell-free-dna-dynamic-window-health.html Mon, 26 Oct 2020 14:33:14 EDT news522941590 Health reports from direct-to-consumer (DTC) genetic tests that use a limited variant screening approach often yield clinical false-negative results, which pose the risk of informing health care decisions based on incomplete information, according to findings presented at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas. https://medicalxpress.com/news/2019-10-quantify-limitations-health-direct-to-consumer-genetic.html Thu, 17 Oct 2019 18:00:01 EDT news490528640 Researchers have found that carriers of the most common genetic variant that causes cystic fibrosis experience some symptoms similar to those of people with cystic fibrosis. These findings were enabled by large-scale genomic data made available just a few years ago. Yu-Chung (Jerry) Lin, BA, MSc, a graduate student at the University of Toronto, presented the research at the American Society of Human Genetics 2019 Annual Meeting in Houston, Texas. https://medicalxpress.com/news/2019-10-cystic-fibrosis-carriers-digestive-symptoms.html Thu, 17 Oct 2019 13:00:01 EDT news490514661 In research that helps scientists better understand and explore treatments for diseases like Alzheimer's, scientists have developed a line of mice in which the mouse version of the Alzheimer's-associated MAPT gene has been fully replaced by the human version of the gene. In this new animal model, known as a full gene-replacement model, the MAPT gene will function the same way it does in humans, allowing researchers to more accurately develop and evaluate genetic therapies. The research was presented at the American Society of Human Genetics 2019 Annual Meeting in Houston, Texas. https://medicalxpress.com/news/2019-10-mouse-human-gene-involved-alzheimer.html Thu, 17 Oct 2019 03:44:15 EDT news490502645 Researchers are exploring the cause and effect relationships between common health indicators and lifespan, by analyzing polygenic risk scores (PRS), a numerical score of a person's risk for disease based on multiple genetic variants. Saori Sakaue, MD, a Ph.D. candidate at Osaka University, and her mentor Professor Yukinori Okada, recently showed that in addition to signaling inherited risk of a disease, PRS revealed that blood pressure and obesity are themselves causally related to lifespan. The research was presented at the American Society of Human Genetics 2019 Annual Meeting in Houston, Texas. https://medicalxpress.com/news/2019-10-blood-pressure-obesity-causally-lifespan.html Thu, 17 Oct 2019 03:43:37 EDT news490502612 Researchers are increasingly prioritizing the need for diversity in genetics and genomics research. To help make such studies more inclusive, José G. Pérez-Ramos, MPH and Timothy D.V. Dye, Ph.D., research scientists at the University of Rochester examined Hispanic and Latinx populations' desire to participate in genomics research. Mr. Pérez-Ramos presented the findings at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas. https://medicalxpress.com/news/2019-10-quantifying-hispanic-latinx-populations-genetic.html Wed, 16 Oct 2019 12:29:02 EDT news490447729 Scientists have assembled a set of genetic sequences that enable the reference genome to better reflect global genetic diversity. The new sequences improve the utility of the human reference genome, a touchstone resource for modern genetics and genomics research, and were presented at the American Society of Human Genetics 2019 Annual Meeting in Houston, Texas https://medicalxpress.com/news/2019-10-human-genome-resources-capture-global.html Wed, 16 Oct 2019 12:09:31 EDT news490446563 Researchers have implicated 10 new genes in the development of schizophrenia using a method called whole exome sequencing, the analysis of the portion of DNA that codes for proteins. Working with a global consortium of schizophrenia research teams, Tarjinder Singh, Ph.D., a postdoctoral fellow affiliated with the Stanley Center for Psychiatric Research at Broad Institute of MIT and Harvard, Massachusetts General Hospital, and Harvard Medical School, and colleagues completed one of the largest of such studies so far, incorporating genetic data from over 125,000 people to gain deeper insights into the genetic underpinnings of schizophrenia. The research was presented as a featured plenary presentation at the American Society of Human Genetics 2019 Annual Meeting in Houston, Texas https://medicalxpress.com/news/2019-10-glean-insights-biological-underpinnings-schizophrenia.html Wed, 16 Oct 2019 07:10:34 EDT news490428617 By collaborating globally in a new, large-scale effort, researchers have made strong progress in sequencing genomes from regions and countries across Africa. These findings will enable more broadly representative and relevant studies ranging from basic through clinical genetics. The researchers' new data and preliminary observations were presented as a featured plenary abstract at the American Society of Human Genetics 2019 Annual Meeting in Houston. https://medicalxpress.com/news/2019-10-sequencing-african-genomes-yields-resource.html Wed, 16 Oct 2019 07:09:34 EDT news490428560 The American Society of Human Genetics (ASHG) today affirmed the crucial role of genetic and genomic data sharing to advance medicine and health research, and asserted core principles about privacy protections that should apply to all human genetics and genomics research regardless of funding source. The Society's views appear today in The American Journal of Human Genetics (AJHG). https://medicalxpress.com/news/2019-09-ashg-asserts-core-genetic-privacy.html Thu, 05 Sep 2019 11:00:02 EDT news486881919 The American Society of Human Genetics (ASHG), along with several co-signing organizations, issued a position statement today outlining whether, and to what extent, there is a responsibility to recontact genetic and genomic research participants when new findings emerge that suggest their genetic information should be interpreted differently, which would allow participants to benefit from current genomics advances. The statement was published in The American Journal of Human Genetics (AJHG). https://medicalxpress.com/news/2019-04-responsibility-recontact-genetic.html Thu, 04 Apr 2019 11:00:02 EDT news473574962 By studying the effect of genetic variations on lifespan across the human genome, researchers have devised a way to estimate whether an individual can expect to live longer or shorter than average, and have advanced scientific understanding of the diseases and cellular pathways involved in aging. Their findings were presented at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, Calif. https://medicalxpress.com/news/2018-10-genetic-lifespan-scientific-aging.html Sun, 21 Oct 2018 06:41:17 EDT news459322864 Geneticists have assembled the largest sets of African genomic data available to date, creating a resource that will help researchers understand the genetic structure of Africa as well as the effects of genetic variation on protein function and disease. The findings underscore the importance of including globally diverse participant cohorts in genetics research, and were presented in a plenary session at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, Calif. https://medicalxpress.com/news/2018-10-large-sequence-panel-enables-population.html Sun, 21 Oct 2018 06:40:40 EDT news459322831 A new approach to genetic analysis finds associations between environmental factors and pharmacogenes—genes associated with a person's response to drugs—sparking ideas for new research at the interface of population genetics and medicine. Findings were presented at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, Calif. https://medicalxpress.com/news/2018-10-environmental-associations-genes-yield-opportunities.html Thu, 18 Oct 2018 14:33:59 EDT news459092031 Comprehensive genetic testing of tumors and non-cancerous tissue from pediatric cancer patients is a feasible and clinically useful approach that can guide patient care, according to findings presented at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, Calif. https://medicalxpress.com/news/2018-10-genome-sequencing-feasible-pediatric-cancer.html Thu, 18 Oct 2018 03:09:16 EDT news459050940 Ancient populations in the Andes of Peru adapted to their high-altitude environment and the introduction of agriculture in ways distinct from other global populations that faced similar circumstances, according to findings presented at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, Calif. https://phys.org/news/2018-10-ancient-andean-genomes-distinct-farming.html Wed, 17 Oct 2018 20:40:01 EDT news459003020 By combining data on individuals' lifetime sun exposure and their genetics, researchers can generate improved predictions of their risk of skin cancer, according to findings presented at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, Calif. https://medicalxpress.com/news/2018-10-combining-genetic-sun-exposure-skin.html Wed, 17 Oct 2018 13:30:02 EDT news458980848 Based on an analysis of data leakages and opportunities to prevent the potential misuse of genetic information, researchers have developed a new file format for functional genomics data that enables data sharing while protecting the personal information of research participants. The findings were presented at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, Calif. https://techxplore.com/news/2018-10-genomic-privacy.html Wed, 17 Oct 2018 13:10:01 EDT news458979139 In the largest genetic sequencing study of autism spectrum disorder (ASD) to date, researchers have identified 102 genes associated with ASD, and report significant progress toward teasing apart the genes associated with ASD from those associated with intellectual disability and developmental delay, conditions between which there is often overlap. The findings were presented at the American Society of Human Genetics 2018 Annual Meeting in San Diego, Calif. https://medicalxpress.com/news/2018-10-largest-autism-sequencing-date-yields.html Wed, 17 Oct 2018 02:41:11 EDT news458962855 Rare variants combined with background genetic risk factors may account for many unexplained cases of familial breast cancer, and knowing the specific genes involved could inform choice of prevention and treatment strategies, according to findings presented in a plenary session at the American Society of Human Genetics (ASHG) 2017 Annual Meeting in Orlando, Fla. https://medicalxpress.com/news/2017-10-quantify-breast-cancer-based-rare.html Sun, 22 Oct 2017 08:41:20 EDT news427880441 Multi-omics profiling, the measurement and analysis of a person's genome along with other biomolecular traits, is an important step toward personal health management that provides valuable, actionable information, according to findings presented at the American Society of Human Genetics 2017 Annual Meeting in Orlando, Fla. https://medicalxpress.com/news/2017-10-personal-omics-precision-health.html Fri, 20 Oct 2017 10:54:21 EDT news427715631 Low levels of physical activity and inefficient sleep patterns intensify the effects of genetic risk factors for obesity, according to results of a large-scale study presented at the American Society of Human Genetics (ASHG) 2017 Annual Meeting in Orlando, Fla. These results confirm and strengthen previous findings based on self-reported activity. https://medicalxpress.com/news/2017-10-physical-inactivity-restless-exacerbate-genetic.html Fri, 20 Oct 2017 10:06:37 EDT news427712786 Rapid whole-genome sequencing (WGS) of acutely ill neonatal intensive care unit (NICU) patients in the first few days of life yields clinically useful diagnoses in many cases, and results in lower aggregate costs than the current standard of care, according to findings presented at the American Society of Human Genetics (ASHG) 2017 Annual Meeting in Orlando, Fla. https://medicalxpress.com/news/2017-10-rapid-whole-genome-sequencing-neonatal-icu.html Thu, 19 Oct 2017 14:35:58 EDT news427642484