“The pathogenic or likely pathogenic variants turned up in 13 genes, the team noted, and included variants implicated in Lynch syndrome, breast and ovarian cancer, dilated cardiomyopathy, and other actionable adult-onset or childhood-onset conditions.”
“In the future, imagine identifying a risk for a devastating illness in a healthy newborn baby,” Green said. “Imagine then being able to find the biomarkers for the ones who are going to develop the disease and even preventing it. Imagine how thrilling that would be.”
“There are ethicists who say a child should not be used as a genetic canary in a coal mine — that one member of a family should not be used without their consent as the access point for a whole family, but I’d like to challenge that. Look at these mothers. We arguably saved their … Continued
“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
“In a newly released study, nearly nine of 10 experts on rare diseases agreed that sequencing healthy newborns’ DNA to reveal treatable genetic disorders should be available for all infants. At least half of experts also endorsed testing for more than 400 genes as part of such newborn genomic screens. These NCATS-supported study results might … Continued
“While newborns are only screened for about 60 treatable conditions, there are hundreds of genetic disorders that have targeted treatments. Now, a national survey of experts in rare diseases found the vast majority support DNA sequencing in healthy newborns…’It has been a longstanding dream to someday offer DNA sequencing to all newborns in order to … Continued
“Research led by Mass General Hospital for Children suggests that almost 90% of rare disease experts are in favor of newborn genome sequencing for monogenic treatable disorders…’Early identification of infants who are at risk for genetic disorders can be lifesaving and screening has the potential to improve healthcare disparities for affected children,’ said lead author … Continued
“An overwhelming majority of rare disease experts agree that a genomic sequencing test for monogenic treatable conditions should be available to all newborns, a new survey shows.”
“When 238 rare-disease doctors across the U.S. were surveyed by a research team at Mass General Brigham in Boston, 88% of them agreed that DNA sequencing to screen for certain treatable childhood disorders should be made available to all newborns. The study was published Monday in JAMA Network Open.”
“Findings from a new study led by researchers at Mass General Brigham suggest that rare disease experts are now in favor of more expansive newborn testing. In a study published today in JAMA Network Open, 88 percent of rare disease experts agreed that DNA sequencing to screen for treatable childhood disorders should be made available … Continued
The Illumina Genomics Forum is Illumina’s premier global event advancing the positive impact of genomic health. G2P Director Dr. Robert Green spoke alongside Ryan Taft on building the evidence base for offering comprehensive sequencing for every child at birth.
At the inaugural International Conference on Newborn Sequencing, researchers from eight studies across the world outlined their plans, goals, and results to date for their newborn sequencing initiatives. The BabySeq Project led by Robert Green at Brigham and Women’s Hospital, the Broad Institute and Harvard Medical School was the first randomized clinical trial designed to … Continued
At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week hosted by Genomes2People and Ariadne Labs, researchers outlined plans from eight studies in the US, the UK, Europe, and Australia.
“This week, Dr. Robert Green is hosting a conference in Boston, bringing together researchers and industry representatives from the U.S., U.K., European Union and Australia to set standards and discuss the challenges and opportunities presented by scaling up newborn genetic sequencing.”
“Would you have your baby’s genes sequenced at birth? A groundbreaking trial that used whole-genome sequencing to predict newborns’ future health, is starting to reveal the impact it has had on the whole family, seven years down the line.”
PMWC, the “Precision Medicine World Conference” is the largest & original annual conference dedicated to precision medicine. At this year’s PMWC, G2P director Dr. Robert C. Green gave a talk on the path to universal newborn sequencing and disease prevention.
“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
In this debate hosted by the University of Chicago School of Medicine, Dr. Lainie Ross and Dr. Robert C. Green both respond to the question “should all newborns have their genomes sequenced at birth?”
“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.
Dr. Robert C. Green presents at the World Medical Innovation Forum on “Newborn Sequencing and Prevention of Rare Diseases: A New Public Health and Biopharma Challenge.”
On April 5th, 2022, initiatives from around the globe will virtually convene for a meeting of the Genomics in Health Implementation Forum (GHIF). This focused workshop aims to share the status of international efforts establishing genomic newborn screening programs and identify areas for engagement with GA4GH Work Streams.
“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
This free 3 day NIH sponsored conference brings academia, industry, and government together to accelerate access to gene-targeted therapies. G2P’s Dr. Robert Green co-chairs the planning committee and will be one of the speakers opening the conference on June 3 as well as speaking about BabySeq on June 10.
Dr. Robert C. Green gives talk at the December 2020 Meeting of the Advisory Committee on Heritable Disorders in Newborns and Children on “Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT).”
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
Meet BabySeq participants, Cora and her mom. Through our NIH-funded BabySeq Project, Cora was diagnosed with partial biotinidase deficiency, which was missed on her traditional newborn screening test. Listen to their story.
We now have the ability to screen for thousands of genetic diseases in newborns. That may not always be the healthy thing to do.