Newborn sequencing

Head start: The promise of universal newborn sequencing
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.

The path to universal newborn sequencing
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

Genomic newborn screening studies around the world begin to take baby steps
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.

Blood from a baby at birth can be gene sequenced to prevent diseases
“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.”
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Revealing the hidden impact of whole-genome sequencing for newborns
“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.”

Precision Medicine World Conference: The path to universal newborn sequencing and disease prevention
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.

Full-genome screening for newborn babies is now on the cards
“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

University of Chicago Medicine, Pediatrics Grand Rounds: The 2nd Annual William Meadow Bioethics Debate
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?”

Baby’s first genome
“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.

Newborn sequencing and prevention of rare diseases: A new challenge
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.”

Genomics in Health Implementation Forum newborn sequencing virtual workshop
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 newborn screening project aims for increased diversity in second phase
“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.”
Parental attitudes toward standard newborn screening and newborn genomic sequencing: Findings from the BabySeq Study

The UK’s plan to sequence the genomes of 200,000 newborn babies
“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

Genomic screening of healthy newborns gets more popular
“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 on newborn sequencing
“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

Study finds parents not perturbed by newborns’ exome results
The latest research from the BabySeq project shows that the delivery of genomic information from healthy newborns does not increase anxiety in parents.

Newborn genome sequencing: The next step in public health?
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?

Dr. Robert Green: A liberating vision of the future
“We have a wild card here that is changing the risk-benefit equation for all babies in order to detect these rare cases.”

Sequencing every newborn’s genome to detect diseases faces ethical and practical obstacles, but the United Kingdom is pushing ahead with a major test
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
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

Study finds genomic sequencing of healthy newborns does not disrupt family dynamics
“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

Determining family impact of genome sequencing on newborns
“Researchers examined how conducting genome sequencing on newborns can impact family dynamics.”

Can parents handle finding out their newborn is at higher risk of certain diseases? A small study suggests they can
“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.”

Sequencing of newborns does not create negative psychosocial effect on families, study finds
“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.”

Green receives NIH research grant for BabySeq2
“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.”

G2P Newsletter July 2021
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.

Robert Green: Newborn sequencing is the goal here in the U.S.
“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
Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression

Gene-targeted therapies: Early diagnosis and equitable delivery
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.

Precision Pioneers EP 4: Geneticist and Harvard professor, Robert Green on accelerating implementation of genomic medicine
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.
Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project

Are we ready? The science, ethics, and geopolitics of genetic engineering and preventive genomics
Augustana University and the Center for Western Studies hosted the 24th Boe Forum on Public Affairs on Monday, March 15th. This virtual event featured keynote speakers Dr. Robert Green and Dr. Jamie Metzl.
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
Universal newborn genetic screening for pediatric cancer predisposition syndromes: Model-based insights

Newborn sequencing in genomic medicine and public health (NSIGHT)
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).”

Genomic sequencing to screen newborns raises more false alarms than routine blood tests
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