Bringing equity to genomic sequencing in newborns: BabySeq 2.0

Boston Children's Hospital |
October 2023

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

Inside HGG Advances: A Chat with Nina Gold

American Society of Human Genetics |
September 2023

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.

G2P July Newsletter 2023

July 2023
G2P News

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

DNA sequencing in newborns reveals years of actionable findings for infants and families

Brigham and Women's Hospital |
June 2023
Press Release

“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

The missing links: How to ensure omics data fulfills its promise

BioCentury |
May 2023

“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

Their DNA hides a warning, but they don’t want to know what it says

The New York Times |
January 2022

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.

Returning genomic research findings reveals unrecognized disease risks

BWH Newsroom |
November 2021
Press Release

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

Diverse Boston neighborhoods recruited for sweeping study of genetics and health outcomes

GBH News |
September 2021
Press, Radio

“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.”

Sequencing every newborn’s genome to detect diseases faces ethical and practical obstacles, but the United Kingdom is pushing ahead with a major test

Science |
September 2021

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

G2P Newsletter July 2021

July 2021
G2P News

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.

Combining science and service as a VA genetic counselor

VAntage Point |
March 2021

“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

G2P Newsletter October 2020

October 2020
G2P News

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

Partners Biobank: Fabry Disease

Youtube |
June 2020

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.