The BabySeq Project

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


Head start: The promise of universal newborn sequencing

Illumina Genomics Forum
September 2022
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
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

October 2022
“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.”

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

The Economist
May 2022
“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
“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
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

November 2021
“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

December 2021
“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
“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

September 2021
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

August 2021
“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
“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.

July 2021
“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

June 2022
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
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).”
BabySeq participant "Baby Cora" and her mother

BabySeq: Partial Biotinidase Deficiency

June 2020
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

December 2019
We now have the ability to screen for thousands of genetic diseases in newborns. That may not always be the healthy thing to do.

21st Future of Health Technology Summit: Preventive genomics now!

Future of Health Technology Institute
May 2019
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.

Is it too soon to consider genome sequencing for newborns?

March 2019
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.

Genetically sequencing healthy babies yielded surprising results

January 2019
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

Inside AJHG: A chat with Alan Beggs

American Society of Human Genetics
January 2019
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.
Baby boy dressed in blue

Baby sequencing steps

Nature Reviews Genetics
January 2019
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.

Newborn genomic sequencing detects unanticipated disease risk factors

Brigham Women's Hospital
January 2019
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.

More than 10% of healthy people have monogenic risk variants

December 2018
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.”

BabySeq, MedSeq projects reveal how many people carry genetic risk variants for rare diseases

Brigham Women's Hospital
October 2018
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

The new, improved world of infant care

Wall Street Journal
September 2018
“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.

Genomic sequencing for newborns: Are parents receptive?

Boston Children's Hospital
September 2018
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.

Would you have your newborn genetically tested?

The Doctors
March 2018
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.

Pick the right controversy- Robert Green

Front Line Genomics
July 2017
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.

Baby genome sequencing for sale in China

MIT Technology Review
June 2017
“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.”

Research rumble: A communication battle of the science stars

Brigham Clinical and Research News
May 2017
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

Full genome sequencing for newborns raises questions

Scientific American
March 2017
“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.

Are you ready to explore your baby’s genome?

Brigham Women's Hospital
January 2017
“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.”

Three parent babies’ may be headed here

Boston Herald
December 2016
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.

Why scientists are sequencing newborns’ genomes

December 2016
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.

Would you want to know the secrets hidden in your baby’s genes?

November 2016
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.

Many parents reluctant to test newborn DNA for disease risk

October 2016
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

Infant DNA sequencing finds genetic disorders that standard testing misses

Vancouver Sun
October 2016
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

Q&A: Sequencing Newborns

The Scientist
October 2016
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.

Will babies be better off if we know their genes?

Washington Post
October 2016
“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?”

3-Parent baby troubles doctors

Boston Herald
September 2016
A baby with three genetic parents is the first-ever born using a breakthrough technique that would protect infants from hereditary diseases

Genome sequencing for healthy people: Is it time?

The Huffington Post
September 2016
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.

BabySeq researcher presents initial findings at ACMG

March 2016
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

Should babies have their genome sequenced?

MIT Technology Review
July 2015
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.

Genome sequencing for newborns: What do new parents think?

Brigham Women's Hospital
December 2014
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.

New study will explore DNA testing in newborns

Boston Magazine
October 2013
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.

Brigham and Women’s Hospital awarded $6-million to study genome sequencing in newborns

Brigham Women's Hospital
September 2013
“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