“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
“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.
“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.”
“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
The latest research from the BabySeq project shows that the delivery of genomic information from healthy newborns does not increase anxiety in parents.
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.”
“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
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
We now have the ability to screen for thousands of genetic diseases in newborns. That may not always be the healthy thing to do.
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.
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 this American Journal of Human Genetics interview, Alan Beggs discusses his recently published paper, Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
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.”
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
“Sequencing at birth could provide a template—a book of life, if you will —to predict conditions or decide what medications to use for an entire lifetime,” says Robert Green, a medical geneticist at Brigham and Women’s and professor at Harvard Medical School who is co-leading the study.
Only about 7 percent of families approached to take part in the BabySeq Project of Brigham Women’s Hospital and Boston Children’s Hospital eventually enrolled, with many citing a lack of interest in research, study logistics, and privacy concerns as reasons for declining to participate.
Listen to WBUR’s radio segment on the BabySeq Project and one of its publications.
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.
Casie Genetti, MS, CGC, a licensed genetic counselor with the Manton Center for Orphan Disease Research at Boston Children’s Hospital is first author of a recently published paper on the BabySeq Project and author of this blog about parents’ receptiveness to genome sequencing.
“According to Green, the Hastings report tries to take a broad view and is well done and well resourced. But he questioned whether recommendations of this type may be premature, considering that the research arms of NSIGHT are still early in the process of collecting, analyzing, and reporting their data.”
The third and final interview conducted with Dr. Robert Green about specific circumstances that could arise from genetic sequencing starting from infancy.
Follow new parents Katherine and Jason as they meet with Genomes2People Genetic Counselors to learn about their baby boy’s genome sequencing results as part of our BabySeq Project.
