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.”
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.
Dr. Robert C. Green speaks at the 2018 Advances in Genome Biology and Technology (AGBT) Precision Health Conference in San Diego, California about our efforts to gather empirical data on genome sequencing healthy individuals. Watch to learn more about G2P’s MilSeq, BabySeq, MedSeq, PeopleSeq, PGen and REVEAL projects. Click here for more on the conference.
“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.