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DNA sequencing in newborns reveals years of actionable findings for infants and families

Brigham and Women's Hospital |
June 2023
Press Release

“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

Genetics experts support adding hundreds of treatable rare diseases to newborn screening

National Center for Advancing Translational Sciences |
May 2023
Press

“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

Should all U.S. newborns undergo genomic testing?

U.S. News & World Report |
May 2023
Press

“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

Rare disease experts support newborn genome sequencing

Inside Precision Medicine |
May 2023
Press

“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

Rare-disease doctors support expanded newborn genomic screening, survey finds

STAT |
May 2023
Press

“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.”

Mass General Brigham-led study finds experts support DNA sequencing in newborns

Mass General Brigham |
May 2023
Press Release

“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

Head start: The promise of universal newborn sequencing

Illumina Genomics Forum |
September 2022
Video

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

International Conference on Newborn Sequencing (ICoNS) |
October 2022
Video

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

Blood from a baby at birth can be gene sequenced to prevent diseases

USA TODAY |
October 2022
Press

“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.”

Revealing the hidden impact of whole-genome sequencing for newborns

New Scientist |
August 2022
Press

“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.”

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

The Economist |
May 2022
Press

“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

Baby’s first genome

Nature Biotechnology |
April 2022
Press

“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.  

Genomics in Health Implementation Forum newborn sequencing virtual workshop

Genomics in Health Implementation Forum |
April 2022
Video

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.

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

Geographical |
November 2021
Press

“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

WebMD |
December 2021
Press

“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

The Beagle Has Landed |
November 2021
Podcast

“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

Sequencing every newborn’s genome to detect diseases faces ethical and practical obstacles, but the United Kingdom is pushing ahead with a major test

Science |
September 2021
Press

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

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

EurekAlert! |
August 2021
Press, Press Release

“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

Green receives NIH research grant for BabySeq2

Brigham Publications: Awards, Honors & Grants |
August 2021
Press

“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.”

Robert Green: Newborn sequencing is the goal here in the U.S.

Mendelspod |
July 2021
Podcast

“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

Gene-targeted therapies: Early diagnosis and equitable delivery

NIH |
June 2022
Video

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.

Newborn sequencing in genomic medicine and public health (NSIGHT)

Advisory Committee on Heritable Disorders in Newborns and Children |
December 2020
Video

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

STAT |
August 2020
Press

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

BabySeq participant "Baby Cora" and her mother

BabySeq: Partial Biotinidase Deficiency

Youtube |
June 2020
Video

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.

23 and baby

Nature |
December 2019
Press

We now have the ability to screen for thousands of genetic diseases in newborns. That may not always be the healthy thing to do.