
New Research Identifies Nearly 300 Treatable Genetic Conditions
Researchers hope the new list of identifiable conditions—treatable during or after pregnancy—will help families prepare for what’s ahead and give their babies the best possible start.
Researchers hope the new list of identifiable conditions—treatable during or after pregnancy—will help families prepare for what’s ahead and give their babies the best possible start.
“The ability to diagnose and treat nearly 300 actionable genetic conditions in fetuses and newborns marks a significant milestone in modern medicine. From traditional heel stick tests to cutting-edge genomic sequencing, these advances empower families with critical information and life-saving options. As research continues to evolve, integrating these technologies into routine prenatal and neonatal care … Continued
“We saw a critical gap in prenatal care and an opportunity to define the genetic disorders that are treatable during this time,” said senior author Nina Gold, director of Prenatal Medical Genetics at Massachusetts General Hospital and an assistant professor of pediatrics at Harvard Medical School. “These conditions are actionable — meaning that, empowered with … Continued
José Manuel González de Aledo Castillo, PhD reflects on his experience rotating with the Genomes2People research program and working on the BabySeq project for a year as part of the IFCC Professional Exchange Program (PSEP). During his rotation, he supported recruitment, genomic analysis, and return of results for the BabySeq project. He also presented results … Continued
Robert Green, MD, MPH was interviewed by Gulf Times at the recent Precision Medicine and the Future of Genomics (PMFG) Summit in Doha, Qatar. Dr. Green discusses findings from the BabySeq Project and the potential for Qatar to be leader in genomics and precision medicine.
Bethany Zettler, MS, CGC is interviewed in this piece about direct-to-consumer genetic testing. “This is the first time in human history that we have access to our genetic data essentially at the push of a button,” says Zettler. This article dives into risks and benefits of at-home genetic testing, including issues of clinical significance, false … Continued
“Mentorship and collaboration are both fundamental to academic medicine. They’re also central themes in the longstanding professional relationship between Mass General Brigham medical geneticists Robert Green, MD, MPH, a senior researcher at Brigham and Women’s Hospital and Nina Gold, MD, an early-stage faculty member at Massachusetts General Hospital.”
“Similar rates of genetic variants have been reported across demographic groups participating in the BabySeq1 and BabySeq2 projects, according to a new analysis presented at the National Society of Genetic Counselors annual meeting here last week.”
Robert C. Green, MD, MPH writes a piece for Lifestyles Magazine on the promise of preventive genomics. Dr. Green draws on his experience researching preventive genomics over the past 20 years and his experience launching Nurture Genomics, a start-up delivering genome sequencing to newborns and children.
“Scientists have made great strides in predicting the genetic risk of common diseases. Figuring out what to do with that information may be just as hard.” In this piece from Harvard Medicine, Robert Green, MD, MPH discusses the clinical utility of polygenic risk scores, drawing on his experience returning these results to patients in the … Continued
In this recent editorial, Nature Medicine argues that every baby deserves access to genetic screening. There are currently several international studies underway—including the Generation Study, Guardian Study, and the BabySeq Project—that are evaluating the utility and challenges of implementing routine expanded newborn genetic screening. Nature Medicine concludes that while newborn sequencing has great potential to … Continued
Will DNA tests like 23andMe actually help people live longer and healthier lives? This article dives into the promises and challenges of using DNA tests to improve health. Robert Green comments on his new company, Nurture Genomics, and explains that, “If you combine genetic risk with targeted care and surveillance for those individuals at higher … Continued
MassMutual announced Tuesday that it’s offering many of its 4.2 million policyholders free genetic risk assessments for eight common diseases, like heart disease, type 2 diabetes, and breast cancer. “I think what’s remarkable about this story is that in some ways it’s taken so long,’’ said Robert Green, a medical geneticist and professor at Harvard … Continued
In this interview with the European Medical Journal, Dr. Nina Gold reflects on what inspired her career in pediatric genetics. She describes her work in clinical and research settings, particularly in the context of newborn genomic screening.
In this recent article from Vogue, top Italian model Bianca Balti shares her story of finding out that she carries the BRCA1 gene and about her choice to undergo a preventive double mastectomy. In September 2023, Bianca Balti was joined by Dr. Robert Green and Francesco Carrozzini at a Fashion4Development (F4D) event where they were … Continued
Dr. Robert Green comments on this story from TODAY about identical twins married to another set of identical twins. “Even though [the children] have different parents, they’re genetically full siblings,” says Dr. Robert Green.
This Rare Disease Day, CBS News reports on the BabySeq Project in an interview with Dr. Robert Green and family participants from the project. Dr. Green shares how he hopes the attention will lead to more screening for genetic conditions in newborn babies.
Robert C. Green joins experts from Brigham and Women’s Hospital in sharing his 2024 predictions for scientific breakthroughs than will revolutionize research.
“Robert Green, a professor at Harvard Medical School and co-PI of the BabySeq2 study, said the project picked the Broad lab as its sequencing provider, while the Mass General Brigham Laboratory for Molecular Medicine (LMM) is doing the genome interpretation. The project, which is currently recruiting, intends to enroll between 500 and 2,000 families over … Continued
“On Saturday, after a 12-year effort, the Department of Veterans Affairs reached a long-term goal — it enrolled the millionth veteran in a genetic database, the Million Veteran Program. According to the V.A., the Million Veteran Program is the largest such database in the world. It includes not only genetic information but also is linked … Continued
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
Fashion 4 Development (F4D) in partnership with Human Kind Institute hosted the Third Annual Sustainable Goals Banquet on Monday, September 18th during the 78th Session of the United Nations General Assembly (UNGA). The evening’s theme was ‘Healthier People, Healthier Planet.’ The night’s final award served as a tribute to the late Franca Sozzani, Editor in … Continued
Each month, the editors of Human Genetics and Genomics Advances interview an early-career researcher who has published work in the journal. This month they featured G2P collaborator Dr. Nina Gold to discuss her paper Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
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
“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
“Omics data could herald a revolution in healthcare. The analysis of rich, interconnected and longitudinal multi-omics datasets promises a better understanding of the underlying biology of human health and disease, which in turn could lead to more effective prevention, earlier and more accurate diagnoses, new treatments and better choice of treatments. Despite that promise, only … Continued
“Anna Lewis, a Harvard researcher who studies the ethical, legal and social implications of genetics research, said that environmental DNA hadn’t been widely discussed by experts in bioethics. But after the findings from Dr. Duffy and his colleagues, it will be.”
“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.”
Genomes2People was featured in the latest issue of Brigham Clinical & Research News “Look who’s talking”. Past winners of the Brigham Research Institute’s BRIght Futures Prize share about the impact that the $100,0000 award has had on their work and careers. “In 2012, we were delighted to be the very first winners of the BRIght … Continued
Dr. Robert Green discusses considerations for screening for autism amidst a complicated ethical landscape in an interview with proto.life
Dr. Robert Green gives his perspective on Beethoven’s DNA being decoded from centuries-old hair samples in an interview with the Washington Post.
Congratulations to G2P Genetic Counselor Janelle Shea and Operations Coordinator Shaye Williams for being nominated for and winning The Brigham Way Award, which recognizes employees who foster a culture of excellence, respect and professionalism by going above and beyond their duties to create an exceptional Brigham Experience for our patients and colleagues. Janelle celebrated her … 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.