Read about how the second iteration of The BabySeq Project, BabySeq 2.0, is striving to make genome sequencing accessible to a diverse population of newborns at Boston Children’s Hospital and other sites around the country. Ingrid Holm, MD, MPH who co-leads BabySeq 2.0 describes how seeking input from a Community Advisory Board from each participating … Continued
Return of incidental/unanticipated omics
Each month, the editors of Human Genetics and Genomics Advances interview an early-career researcher who has published work in the journal. This month they featured G2P collaborator Dr. Nina Gold to discuss her paper Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
In this newsletter we’re excited to announce that the Precision Population Health initiative (PPH) is working with the South Central Foundation (SCF) on a new clinical genomic screening program to improve the health of the Alaska Native population. We are also thrilled to share that registration for the Second Annual International Conference on Newborn Sequencing … Continued
“The pathogenic or likely pathogenic variants turned up in 13 genes, the team noted, and included variants implicated in Lynch syndrome, breast and ovarian cancer, dilated cardiomyopathy, and other actionable adult-onset or childhood-onset conditions.”
“In the future, imagine identifying a risk for a devastating illness in a healthy newborn baby,” Green said. “Imagine then being able to find the biomarkers for the ones who are going to develop the disease and even preventing it. Imagine how thrilling that would be.”
“There are ethicists who say a child should not be used as a genetic canary in a coal mine — that one member of a family should not be used without their consent as the access point for a whole family, but I’d like to challenge that. Look at these mothers. We arguably saved their … Continued
“By screening apparently healthy newborns, entire families were alerted for the first time that dangerous but treatable genetic variants were present,” said corresponding author Robert C. Green, MD, MPH, a physician-scientist at Brigham and Women’s Hospital and professor of genetics at Harvard Medical School, who leads the BabySeq Project. “We were stunned to see that … Continued
“Omics data could herald a revolution in healthcare. The analysis of rich, interconnected and longitudinal multi-omics datasets promises a better understanding of the underlying biology of human health and disease, which in turn could lead to more effective prevention, earlier and more accurate diagnoses, new treatments and better choice of treatments. Despite that promise, only … Continued
In this Chicago Tribune post, G2P Director Robert Green writes that Hemsworth and Jolie are accelerating awareness and acceptance of a future where we do not wait to respond to the ravages of so many diseases but rather anticipate, predict and prevent them through genomics.
The lack of diversity in genomic research may be a call to fundamentally change the research enterprise.
In this debate hosted by the University of Chicago School of Medicine, Dr. Lainie Ross and Dr. Robert C. Green both respond to the question “should all newborns have their genomes sequenced at birth?”
“Genomic researchers who are returning results to participants need to look at how to incorporate sequencing now, not later.”
The MGB Biobank returned actionable genetics results to 256 participants, 76.3 percent of whom were unaware that they carried a variant that put them at increased risk. The New York Times reports on this return of results process, outlining that some participants wanted to learn this information and others did not.
“Published in the American Journal of Human Genetics on Monday, the study describes takeaways from an effort by BWH’s Genomes2People (G2P) program to disclose actionable genetic results to research participants who volunteered to contribute to the Mass General Brigham Biobank.”
Press Release: In a new study published in The American Journal of Human Genetics, investigators from Brigham and Women’s Hospital, Massachusetts General Hospital and Harvard Medical School describe lessons learned from their experience disclosing actionable genetic results to research participants and transitioning them to clinical care. The team returned results to 256 participants, 76.3 percent … Continued
“Medical researchers in Boston are helping sign up one million volunteers for a first-of-its-kind study [The All of Us Research Program] examining the link between genes and our health. Researchers are actively recruiting volunteers of different races and ethnicities to ensure that the study reflects the diversity of the United States.”
Genomic testing for Baby Cora, a participant of The BabySeq Project, revealed a disorder that might otherwise have gone undetected through traditional newborn screening. “Cora’s case illustrates the promise of sequencing the entire genomes of newborns: uncovering a bounty of genetic information that could identify infants needing treatment and improve health later in life…Genomics England … Continued
“Should people who volunteer for genomic studies be told about unrelated disease mutations that turn up in their sequence data?”
Our G2P research team continues to be extraordinarily productive, publishing 21 scientific papers so far this year. This summer newsletter highlights a few of these papers, as well as G2P media features, blog posts, and policy recommendations.
Joint project between Ariadne Labs and Genomes2People to create implementation pathways, tools and guides that work across various clinical contexts.
“In 2019, [G2V’s] Morgan Danowski graduated and joined Boston VA. There, she supports VA’s Million Veteran Program (MVP), now the world’s largest genomics research program. The program takes DNA from participating Veterans and information on their health, lifestyle and military experiences and exposures to better understand disease in Veteran populations. With over 830,000 Veterans enrolled, … Continued
Over the past few months, G2P faculty have attended numerous virtual conferences, been featured in the news and media, and contributed to studies involving the role of genetics in COVID-19. Many of our presentations are transitioning to a virtual format and shared on YouTube for all to view; make sure to check out our presentations … Continued
Meet Tom, a Partners HealthCare Biobank Research Participant, who was discovered to have a genetic variation for Fabry Disease. Checkout his story to understand his genes, the impacts on his healthcare and family.
Meet Brian, who through the Partners HealthCare Biobank learned that he was a carrier for familial adenomatous polyposis (FAP). Watch to learn about his journey!
Meet Chris, a Partners HealthCare Biobank research participant who learned about her risk for developing breast cancer. Listen to her story.