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.”
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.”
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.
“If you go to a scientific meeting, even with the greatest critics, and you ask, how many people in this audience believe that your entire genome will be part of your everyday medical care in fifty years, every person will raise their hand. So the only questions we’re debating are: how do we get there, … Continued
Dr. Robert C. Green joins Patrick Short of “The Genetics Podcast” to discuss genetic testing in healthy adults and newborns, along with the barriers we need to overcome to realize the full potential of personalized medicine.
In this study led by UCSF researchers, exome sequencing was found to produce more false positives and false negatives for inherited metabolic disorders than the standard blood testing conducted in newborns. G2P’s Dr. Robert Green, co-leader of the BabySeq Project, speaks to the possibility “that the most comprehensive screening for newborns will be some combination … Continued
Whole genome tests can help identify the cause of a baby’s mysterious illness. But ethicists say it’s still too soon to use them for all infants.
We now have the ability to screen for thousands of genetic diseases in newborns. That may not always be the healthy thing to do.
Babies are tested for a number of conditions soon after birth, but varied approaches to screening worldwide highlight how fragmented the medical profession remains over this vital process.
A decade ago, it seemed inevitable that every newborn would get a complete gene scan. But there are technical challenges and practical concerns.Dr. Robert Green, from Brigham and Women’s Hospital in Boston, voiced one view about doing that: “If sequencing reveals health risks at any point in life, and if that’s good, then it’s better … Continued
Dr. Robert Green shares the findings from the BabySeq project to showcase the need for preventive genomics in clinical care.
G2P’s summer began with our team members participating in the Boston Athletic Association 10K on Sunday June 23rd! Over the past few months, G2P faculty have attended numerous conferences nationwide, been featured in podcasts discussing the new preventive genomics clinic, and engaged with leaders in science, business, and industry in support of the Franca Fund.
When a newborn’s genome is sequenced, should some results be withheld?
Pediatric oncologist Dr. Lisa Diller, the Lillian Gollay Knafel Fellow at the Radcliffe Institute for Advanced Study, is exploring genetic testing in newborns that could help them escape severe health consequences.
Spring saw accomplishments by team members through numerous projects. G2P officially kicked-off the PeopleSeq consortium in Boston this January! Our very own, Carrie Blout, MS, CGC, was one of 86 Partner’s individuals awarded the Partners In Excellence Award.
Parents and clinicians have their own ideas about newborn genome sequencing. Dr. Robert Green, principal investigator of the BabySeq Project, shares a detailed analysis of the results from the study and his thoughts on the utility of genomic sequencing for newborns in clinical care.
Researchers analyzed nearly 5,000 genes looking for the risk of diseases and found that almost 10 percent of babies tested were at risk for a condition that could be treated early.
As principal investigator on the BabySeq Project, Dr. Robert Green shares the findings from the project along with discussion on the expectations and benefits of sequencing healthy babies. Green states, “Suddenly the information available in the genome of even an apparently healthy individual is looking more robust, and the prospect of preventive genomics is looking … Continued
In the BabySeq Study, a total of 88% of sequenced neonates had carrier status for one or more rare genetic variants known to be associated with recessive diseases.
Getting out in front of disease is the ultimate goal of DNA screening like the BabySeq project, says Dr. Robert Green, its joint director and a Harvard Medical School professor.
A trial called BabySeq, in which researchers performed genomic sequencing on 159 newborns, identified children susceptible to diseases that regular screening doesn’t look for.
Newborn DNA testing offers several potential benefits. Mainly, it could expand the number of conditions clinicians can test for before a child starts showing symptoms, giving them and patients a head start in handling the diseases.
Scientists were stunned by the number of babies with unanticipated genetic findings that could lead to disease prevention in the future.
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.
Robert Green, MD, MPH, the projects’ principal investigator suggests “These results are unexpected and exciting, suggesting that if we examine enough well-established, disease-associated genes, we will unearth monogenic risk variants in more than 10 percent of purportedly healthy individuals.”
