Press Brief: The BabySeq project reports that out of the 159 newborns that were randomized to receive genomic sequencing, 15 were found to have a genetic variant for which there was a strong evidence of increased risk of a disorder that presents or is clinically manageable during childhood.
More information on newborn and adult sequencing studies unveiled at the 2018 American Society for Human Genetics Meeting in San Diego, CA. Two projects in which healthy individuals have had their genomes sequenced have revealed that searching for unanticipated genetic results in newborns and adults can unearth far more variants associated with diseases than previously thought, … Continued
Press Brief: The BabySeq Project reports that although more than 80 percent of approached mothers and fathers declined an offer for free genomic sequencing of their newborn, more than half of those parents were not interested in any research participation.
Medical investigators have used data from the MedSeq Project to develop an effective computer program that can identify critical differences in individuals’ blood types with more than 99 percent accuracy.
“Whole genome sequencing is coming of age, but there’s fear that with these advancements will come rocketing health care costs,” said lead author Kurt Christensen, MPH, PhD, an instructor of medicine in the Division of Genetics at BWH. “Our pilot study is the first to provide insights into the cost of integrating whole genome sequencing … Continued
Up to 75 active-duty U.S. Air Force service members will now have the first opportunity to incorporate whole exome sequencing (WES) into their routine clinical care through a new two-year research partnership between the Air Force Personalized Medicine Program, Air Force Medical Genetics Center and several academic institutions, including Brigham Women’s Hospital, Broad Institute, Harvard … Continued
Integrating genome sequencing and other omics technologies into the day-to-day practice of medicine is an extraordinarily exciting prospect with the potential to anticipate and prevent diseases throughout an individual’s lifetime,” said senior author Robert C. Green, MD, MPH.
“Simply putting together all the pieces to design these complicated research projects is an ambitious undertaking. But it is essential that we find ways to rigorously measure the clinical utility of new technologies so that we can apply them responsibly, and that is the focus of the BabySeq Project, and of the other NSIGHT projects.”
Despite being on the market for nearly a decade, direct-to-consumer (DTC) genetic testing continues to be controversial among experts and raises concerns among health care providers and regulatory agencies. The NIH-funded “Impact of Personal Genomics (PGen) Study” addresses these concerns by empirically measuring the perceptions and tracking the behaviors of individuals who have received DTC … Continued
A study published in the journal Science Translational Medicine is the first to show that mutations in certain cancer and cardiovascular genes put individuals at an increased risk for dominantly inherited, actionable conditions, regardless of family medical history. The study, carried out in two separate populations of African-Americans and European-Americans, finds that individuals carrying these … Continued
A new study has found that providing unanticipated information about risk of coronary artery disease during a genetic risk assessment for Alzheimer’s disease helped some participants cope with their results, and also motivated participants to make changes to their health behaviors. The results of the randomized controlled study are published online in the journal Annals of … Continued
A study published this week in Genetics in Medicine is the first to explore new parents’ attitudes toward newborn genomic testing. The findings suggest that if newborn genomic testing becomes available, there would be robust interest among new parents, regardless of their demographic background.
A review article titled, “Diagnostic Clinical Genome and Exome Sequencing” published in the The New England Journal of Medicine (NEJM), summarizes the technologies underlying CGES and offers insights for how clinicians should order such testing, interpret the results, and communicate the results to their patients.
“This first-of-its-kind study will accelerate the use of genomics in clinical pediatric medicine by creating and safely testing novel methods for integrating sequencing into the care of newborns. We will implement and study a futuristic goal: that genomic information examined shortly after birth can serve as a resource throughout infancy and childhood to inform clinical … Continued
“We are leveraging and combining large amounts of data that have already been collected from many studies to make new discoveries that we hope will identify previously unsuspected targets for prevention and treatment.”
In a highly anticipated report, landmark recommendations on the handling of incidental findings in clinical genome and exome sequencing are being issued from the American College of Medical Genetics and Genomics (ACMG). A report of the recommendations, led by Dr. Robert Green, MD, MPH, outlines for the first time a minimum list of genetic conditions, … Continued
Robert Green, MD, MPH, has been named the winner of the $100,000 BRIght Futures Prize, after a unique competition in which nearly 6,500 online votes from people across the globe determined the winning project. Dr. Green’s project, which will explore the genome sequencing of newborns, emerged as the winner after six weeks of public voting.
In a new Alzheimer’s disease risk assessment study unveiled this week during the Alzheimer’s Association International Conference, researchers at Brigham and Women’s Hospital are offering genetic testing and Alzheimer’s risk estimates for people who are experiencing mild cognitive impairment.
“The goal is to produce results that can be translated into recommendations to guide policy and practice in this rapidly emerging area,” said Green.
“This study will build on the expertise and accomplishments of this remarkable scientific team to create and test novel methods for interpreting whole genome sequencing information and actually using that information in clinical medicine,” said Robert C. Green, MD, MPH.