Background The BabySeq Project: Phase I was a first-of-its-kind randomized clinical trial designed to measure the utility of using genomic sequencing in routine newborn care. The concept for this project is built off of the existing newborn screening program, an important public health initiative. All newborns born in the U.S. receive a heel stick blood … Continued
Julia Karow, Managing Editor at GenomeWeb; Robert Green, Director of Genomes2People and Co-Chair of the International Consortium on Newborn Sequencing (ICoNS); Wendy Chung, Chair of Pediatrics in Medicine at Boston Children’s Hospital and leader of the Guardian Study; and James Buchanan, Senior Lecturer in Health Economics at Queen Mary University in London, discuss takeaways and … Continued
Earlier this month, leading researchers and experts in genomics and newborn sequencing representing the U.S., the U.K., Europe, Australia, and the Middle East came together in London at the Royal Institution for the second annual International Conference on Newborn Sequencing co-hosted with Genomics England to present updates regarding their own research and share future plans.
Last week a dozen newborn sequencing research programs from the US, the UK, Europe, Australia, and the Middle East shared progress updates and future plans at the second annual International Conference on Newborn Sequencing (ICoNS) in London. Robert Green and Ingrid Holm, co-PIs of the BabySeq2 study, shared enrollment updates from the second iteration of … Continued
Read about how the second iteration of The BabySeq Project, BabySeq 2.0, is striving to make genome sequencing accessible to a diverse population of newborns at Boston Children’s Hospital and other sites around the country. Ingrid Holm, MD, MPH who co-leads BabySeq 2.0 describes how seeking input from a Community Advisory Board from each participating … Continued
This newsletter highlights the International Conference on Newborn Sequencing (ICoNS) that is just around the corner on October 5-6, 2023 in London, UK. It’s not too late to register! Other G2P updates include media coverage of BabySeq1 publications, a new publication from the Sanford Imagenetics team about pharmacogenomics in primary care, and a blog post … Continued
A recent editorial by The Lancet dives into the debate on universal newborn sequencing. While using genome sequencing as a screening tool for newborns has the potential to offer a great deal of relevant health information, there are certainly ethical issues and other challenges that also need to be addressed. The BabySeq Project is cited … Continued
In this newsletter we’re excited to announce that the Precision Population Health initiative (PPH) is working with the South Central Foundation (SCF) on a new clinical genomic screening program to improve the health of the Alaska Native population. We are also thrilled to share that registration for the Second Annual International Conference on Newborn Sequencing … Continued
Newborn sequencing experts participated in a full-day workshop examining the utility of DNA sequencing in newborns. The workshop addressed the current state of newborn sequencing as well as relevant expected benefits, harms, and ethical considerations in six sessions. Robert C. Green, MD, MPH participated in a panel discussion and spoke about the BabySeq Project in … Continued
“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.
Dr. Robert C. Green presents on the case for preventive genomics: BabySeq at the 2019 NSIGHT Steering Committee Meeting.
Preventive Genomics Now! Robert Green M.D., MPH, Professor of Medicine (Genetics) Director, Genomes2People Research Program, Brigham and Women’s Hospital, Broad Institute, at 21st Future of Health Technology Summit at MIT Bartos Theatre produced by Renata Bushko Founder Future of Health Technology Institute FHTI since 1995.
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.
Dr. Robert C. Green talks about The BabySeq Project, the world’s first study of genetically sequencing newborns, and how genetic information can influence one’s medical care beginning from birth.
Genomic testing for Baby Cora, a participant of The BabySeq Project, revealed a disorder that might otherwise have gone undetected until life-long health issues presented themselves.
Everyone talks about generating the clinical utility data necessary to integrate genomics into healthcare, but no one has taken this to heart more, or generated more of it, than Dr. Robert Green.
“The idea of finding a risk in their beautiful baby of something that might or might not happen is terrifying or repugnant,” he says. “But other types of people are information seekers.”
Dr. Robert Green discusses genetic privacy concerns and questions about whole genome sequencing that have arisen from parents whose children are participating in the BabySeq project.
“Les parents, grands curieux, seraient même fous des données génomiques!”
The project has two aims: One is to evaluate the risks and benefits of genome sequencing in healthy and sick infants, with the goal of developing evidence to support guidelines for use of this technology in newborn screening or care. The second objective is to study parents’ thoughts and feelings about genetic testing, as well … Continued
Gaining information by getting your DNA sequenced on what diseases you have risks for and can take preventative measures based on this information
“We are moving to a world where the technology will get so good and the cost will get so low that it will be very appealing to apply sequencing to not only sick people but well people,” says geneticist Robert C. Green.
“Simply putting together all the pieces to design these complicated research projects is an ambitious undertaking. But it is essential that we find ways to rigorously measure the clinical utility of new technologies so that we can apply them responsibly, and that is the focus of the BabySeq Project, and of the other NSIGHT projects.”
In-vitro fertilization, above, that uses DNA from two mothers to prevent some serious diseases has been approved in Britain, and Dr. Robert Green, a geneticist at Brigham and Women’s Hospital, says the U.S. will be pressed to follow suit.
Forbes highlights the work of the BabySeq project by speaking with Laura Stetson, a mother who enrolled her daughter in the research program. By sequencing their daughter’s genome, doctors were able to quickly combat the daughters biodeficiency disease that was not caught during the standard heel stick screening.
Conducting whole-exome sequencing on newborn babies during the BabySeq project highlighted important findings on how it would affect parents. While some were willing to know the information that was coded in their baby’s genes, many were resistant to this idea because of public policy and possible insurance mishaps.
A family that had participated in the BabySeq project shares their experiences about getting their baby’s full genome test results back that showed a mutation in the elastin proteins (elastin helps heart muscles bend and stretch). The father of the baby states “.. I think the biggest regret would have been had something happened down … Continued
A general overview of BabySeq and its findings, including a detailed analysis of the risks and benefits of newborn sequencing for the future.
Highlighting the story of a family who participated in the BabySeq study that detected their newborn infants partial biotinidase deficiency. Shawn Fayer, the project manager of BabySeq and a licensed genetic counselor stated, ” Symptoms would likely have appeared if the child had become sick from something else, which makes it very difficult to diagnose. … Continued
Dr. Robert Green sits down to discuss the results of a participating family in the BabySeq project where a BRCA2 mutation was found in a baby boy and how the situation was approached to tell the family since this directly affected either one or both of the parents.
Green’s team plans to study whether knowing about such mutations is beneficial for the family in the long run, or results in unnecessary anxiety and tests.
The idea of newborn sequencing may have been initially inviting to parents who were expecting healthy children, but after learning of all the adverse effects that lead after, many decided to not follow through as research participants.
“An ongoing clinical trial at Brigham and Women’s Hospital and Boston Children’s Hospital, called BabySeq, is trying to untangle some basic questions about the benefits and harms of gene sequencing. Does it improve health? Does it lead to lots of excessive medical testing? Does it cause harm?”
A baby with three genetic parents is the first-ever born using a breakthrough technique that would protect infants from hereditary diseases
A blog post authored by Dr. Robert Green discussing the benefits and challenges that people and health professionals are faced with when dealing with genetic testing and screening. Here, he addresses ethical issues and potential complications alongside beneficial factors that deal genome testing.
A family who participated in the BabySeq project at Brigham and Women’s is for genetic testing, as they wanted to be prepared, even if the test came back to show that their child would develop a life altering disease.
With advances in prenatal screenings in the Bay Area, studies have shown that more women are deciding to end Down syndrome pregnancies.
The principal investigators on the BabySeq project were trying to determine what information would be the most pertinent and helpful for both patients and physicians to know from whole-exome sequencing in the initial stages of the project. Their findings within the first couple of patients were quite interesting and they are excited to continue with … Continued
The big question is how to make genomic information useful to patients and medical practitioners; Genomes2People is looking for answers through the MedSeq and BabySeq projects, among others.
“For the first time ever doctors at Brigham & Women’s and Boston Children’s Hospital are sequencing the genome of newborns. This allows doctors to decode the DNA and look for the possibility of future diseases and conditions.”
The BabySeq project in Boston at Brigham and Women’s Hospital, led by Dr. Robert Green, has begun collecting data to quantify the risks and benefits of DNA sequencing at birth.
Medical privacy and concert concerns are being addresses with newborn sequencing advances. It is predicted that there will be many changes to policy in the coming years.
A study published this week in Genetics in Medicine is the first to explore new parents’ attitudes toward newborn genomic testing. The findings suggest that if newborn genomic testing becomes available, there would be robust interest among new parents, regardless of their demographic background.
Doctors at Brigham and Women’s Hospital and Boston Children’s Hospital are developing a new clinical trial to look at the effects of genome sequencing in newborn babies.
“This first-of-its-kind study will accelerate the use of genomics in clinical pediatric medicine by creating and safely testing novel methods for integrating sequencing into the care of newborns. We will implement and study a futuristic goal: that genomic information examined shortly after birth can serve as a resource throughout infancy and childhood to inform clinical … Continued