Using genomics in medicine
Long-term clinical impact of pseudodeficiency alleles in IDUA
Family genetic risk communication and cascade testing in the BabySeq Project
At-Home Genetic Testing: The Good, The Bad, and The Ugly
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
G2P September Newsletter 2024
Our September newsletter features the 2024 meeting of the International Consortium on Newborn Sequencing, a recent publication in Nature Medicine featuring the BabySeq Project and a new blog post from guest blogger, Rev Carolyn Philstrom, about her son’s newborn screening story. We also highlight a recent article about the long-standing mentorship between Drs. Robert Green … Continued
An enduring partnership built on mentorship and collaboration
“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.”
BabySeq Project Finds Similar Rates of Genetic Risk Variants Across Diverse Groups
“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.”
Estimating the sensitivity of genomic screening for treatable inherited metabolic disorders
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
Defining and pursuing diversity in human genetic studies
First Person: Robert C. Green
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.
What a Polygenic Risk Score Can and Can’t Tell You
“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
Every baby deserves access to genetic screening
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
Health-literate care organizations for precision health
Primary care providers’ experiences with an active elective genetic testing program
Genetic counselors’ perspectives on genomic screening of apparently healthy newborns
The Second Revolution of Newborn Screening
Visiting researcher, José Manuel González de Aledo Castillo, speaks on what newborn sequencing programs can learn from conventional newborn screening in his recent blog entitled “The Second Revolution of Newborn Screening.” He advocates for a future in which newborn sequencing and traditional newborn screening can work together in a complementary manner to ultimately reduce costs … Continued
Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service
G2P June Newsletter 2024
Our June newsletter highlights the upcoming International Conference on Newborn Sequencing and several stories from recent trainees! Other updates include two new publications from G2P team members, Sophia Adelson and Anna Lewis. Finally, we give a shout out to the members of our team who will be Running4Research at the upcoming 10K in Boston.
Genome Sequencing for Kids – Robert Green
Robert Green joins Pablos Holman on the Deep Future podcast to discuss the promise of genome sequencing in children. He draws upon his work from the BabySeq Project and from his new start-up company, Nurture Genomics, where he uses genomic screening in infants to detect and mitigate actionable genetic conditions.
Familial communication and cascade testing following elective genomic testing
The DNA Test Delusion
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 is rolling out free genetic testing for members, a dicey area for life insurers
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
Managing differential performance of polygenic risk scores across groups: real-world experience of the eMERGE Network
Interview: Nina Gold
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.
G2P March Newsletter 2024
Genomes2People’s first newsletter of 2024 highlights presentations at the ACMG Annual Clinical Genetics Meeting from several G2P collaborators including Ilham Abbasi, Dr. Nina Gold, and Dr. Kurt Christensen. The piece also highlights Dr. Robert Green’s recent interview with CBS News on Rare Disease Day that showcases findings and stories from the BabySeq Project. The newsletter … Continued
Model Bianca Balti Reflects on Her BRCA1 Diagnosis and Preventative Mastectomy
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
We’re identical twins who married another set of identical twins. Our babies are biological siblings
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.
A Tribute to Franca Sozzani: Celebrating FiveYears of the Franca Sozzani Fund for Preventive Genomics
Pakhi Dixit, who manages social media for Genomes2People, writes a tribute to Franca Sozzani in the latest G2P blog. She highlights Franca’s powerful legacy and story behind the Franca Sozzani Fund for Preventive Genomics which was created to, “leverage evidence and advocacy around preventive genomics so that everyone, regardless of ethnicity or socioeconomic background, may … Continued
Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in familial hypercholesterolemia in the Million Veteran Program
Boston doctor wants more screening for rare genetic conditions in newborn babies
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.
Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting
Video: Boston doctor calls for more screening for genetic rare diseases in newborns
In this short video from CBS Boston, Dr. Robert Green shares findings from the BabySeq Project and makes the case for more screening of genetic diseases in newborns. Families who participated the BabySeq Project also share their stories.
Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion
How Genomics Could Save Your Life
In this blog post, Dr. Robert Green poses the question: “What’s holding us back from doing more with preventive genomics in medicine?” Drawing on his recent keynote talk at the Precision Medicine Network (PMNET) Forum in Riga, Latvia, Dr. Green explores near-term applications of precision medicine using genetic testing such as: newborn and childhood sequencing, … Continued
Helping patients understand multi-cancer early detection tests: a scoping review
ThinkResearch Podcast: Genomics and Healthcare
“What role can genomics play in improving healthcare? Jason Vassy, MD, MPH, MS, of Veterans Affairs (VA) Boston Healthcare System and Brigham and Women’s Hospital shares his research on how patient DNA might be used to improve healthcare and prevent disease.”