“Doctors in many places want to sequence and screen babies’ entire genomes at birth. In America there are projects to do just that at Boston Children’s Hospital, Columbia University and Rady Children’s Hospital in San Diego. A pioneering group at Harvard, known as BabySeq, has recently received money to expand its small-scale work to include … Continued
Using genomics in medicine
“Whole-genome sequencing may be the fastest way to diagnose rare complex diseases, but should it be incorporated into healthy newborn screening?” “We are missing the opportunity to address an increasing number of treatable conditions,” says G2P Dr. Robert Green.
Reaping the full benefits of personalized medicine requires a cadre of genetic counselors as diverse as our patients. We’re working on it.
“BabySeq, the next-generation sequencing-based universal screening program for newborns, is gearing up for a second, expanded study. The lead researchers said they want the four-year, $5.1 million grant to help address a lack of diversity in the first cohort.”
“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.
“Precision medicine is personalised and creating individualised treatments for a whole range of conditions, so how is it changing the way we manage disease? Philip Clark spoke to John Mattick a Professor of RNA Biology at UNSW and Professor Robert Green is the Director of the Genomes2People Research Program at Harvard Medical School.”
“Genomics England are poised to a launch a pilot project which will see the genomes of newborn babies sequenced on their very first day of life…In the USA, under a pilot project called BabySeq, a team co-led by Robert Green from Brigham and Women’s Hospital found that across 1,500 genes in 127 healthy and 32 … Continued
“Even before their baby is born, parents face some tough questions: Home birth or hospital? Cloth or disposable diapers? Breast, bottle, or both? But advances in genetic sequencing technology mean that parents will soon face yet another choice: whether to sequence their newborn’s DNA for an overview of the baby’s entire genome.”
“Amy McGuire [Co-PI of BabySeq] joins Laura Hercher on “The Beagle Has Landed” to discuss BabySeq and the high-risk, high-reward prospect of making genome sequencing of newborns routine. After a preliminary study many years in the making, Amy is here to assure us of one thing: ‘what we’re doing isn’t Gattaca.’ Also, the take-home message: … Continued
“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
The latest research from the BabySeq project shows that the delivery of genomic information from healthy newborns does not increase anxiety in parents.
What Happens Next examines the future as we confront massive technological transformations in central aspects of daily life. In this video, G2P’s Dr. Robert Green shares what we’ve learned from genetic testing in healthy individuals over the past decade.
For the first time in history, we can treat the underlying cause of some genetic diseases — if we catch them early enough. What does this mean for public health?
“We have a wild card here that is changing the risk-benefit equation for all babies in order to detect these rare cases.”
“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
“We have now shown that this information can be medically beneficial through early intervention and is not disruptive to the parent-infant relationship, and our ongoing analysis is measuring economic effects of genome sequencing. This type of research is critical to determine best practices for preventive genomic healthcare throughout the lifespan.” – Robert Green
“Researchers examined how conducting genome sequencing on newborns can impact family dynamics.”
“When parents were surveyed about measures like how well they bonded with their children, their levels of distress, and even the parents’ relationships with one another, there were no meaningful differences for parents whose children had their genomes sequenced compared to those whose children underwent standard newborn screening.”
“Researchers studying the psychosocial effect of newborn genomic sequencing on families in the BabySeq project have found that there was no persistent negative psychosocial harm in families who received such sequencing, nor among those who received a monogenic disease risk finding for their infants.”
“Robert Green, MD, MPH, of the Division of Genetics, received a research grant from the National Institutes of Health (NIH) to fund The BabySeq Project: Phase II, also known as BabySeq2, the continuation of a project to study genome sequencing in newborns.”
“Should people who volunteer for genomic studies be told about unrelated disease mutations that turn up in their sequence data?”