Newborn sequencing
Critical bottlenecks in rare disease research and care: A community perspective

IFCC Professional Scientific Exchange Program (PSEP): my experience at Brigham and Women’s Hospital in Boston, USA
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

Identification of Treatable Genetic Disorders in Fetuses and Newborns
Over the past decade, genomic sequencing has become a tool for understanding the genetic underpinnings of sonographic abnormalities detected during pregnancy. However, many genetic conditions do not cause detectable physical changes, but can still have profound implications for the health of the fetus or newborn. In this talk, Dr. Gold will discuss a proposed framework … Continued
Family genetic risk communication and cascade testing in the BabySeq Project

G2P 2024 Year in Review
Thanks to you, we made it happen! Extending a heartfelt thank you for your support of the Genomes2People Research Program in 2024. This newsletter highlights milestones in 2024, including expanding the BabySeq project to 7 sites nationwide, hosting 15 research trainees, contributing to a successful International Conference on Newborn Sequencing, and completing the first ever … Continued

‘Qatar well positioned for more leadership roles in genomics’
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.
Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns
Long-term health outcomes of individuals with pseudodeficiency alleles in IDUA may inform newborn screening practices for mucopolysaccharidosis type I

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

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 newborn screening for treatable inherited metabolic disorders
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants

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.

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
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

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.

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

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

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.

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.

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

Your Baby’s Genome: The Radical Promise of Early DNA Testing
Robert Green is interviewed by Seema Kumar, Cure CEO about The Radical Promise of Early DNA Testing for human health and longevity. He shares results from the BabySeq Project and progress on building the new start-up company, Nurture Genomics.
Ready or not, genomic screening of fetuses is already here

G2P December Newsletter 2023
G2P’s final newsletter of 2023 celebrates the five year anniversary of The Franca Sozzani Fund for Preventive Genomics. Other highlights include the second annual meeting of the International Consortium on Newborn Sequencing (ICoNS) in London and the 2023 Advisory Board members of the year, Mike and Ann Marie Einziger. We also join Genomes2Veterans in celebrating … Continued

BabySeq, ICoNS and the power of newborn sequencing: Q&A with Dr Robert Green
“In this Q&A with Will Greene, Healthcare Engagement Lead at Roche Diagnostics Asia Pacific, Dr Green talks about his pioneering work in newborn sequencing, including via the BabySeq project and the International Consortium on Newborn Sequencing (ICoNS), as well as his broader efforts to make genomic information actionable and accessible for people everywhere.”

Broad Institute Rebrands Clinical Lab Services to Be ‘a Little Bit More Out There’
“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

Newborn Sequencing 2023 Part II: What Evidence Is Enough?
Julia Karow, Managing Editor at GenomeWeb; Robert Green, Director of Genomes2People and Co-Chair of the International Consortium on Newborn Sequencing (ICoNS); Wendy Chung, Chair of Pediatrics in Medicine at Boston Children’s Hospital and leader of the Guardian Study; and James Buchanan, Senior Lecturer in Health Economics at Queen Mary University in London, discuss takeaways and … Continued

Global leaders convene in London: Advancing newborn sequencing on an international scale
Earlier this month, leading researchers and experts in genomics and newborn sequencing representing the U.S., the U.K., Europe, Australia, and the Middle East came together in London at the Royal Institution for the second annual International Conference on Newborn Sequencing co-hosted with Genomics England to present updates regarding their own research and share future plans.

Five Year Follow-Up to BabySeq Project
The 2023 Precision Medicine Network (PMNET) Forum was held on October 12-13, 2023 in Riga, Latvia. PMNET’s mission is to improve patient care and outcomes by promoting development and adoption of Precision Medicine. Robert Green gave a talk about the five year follow-up of the BabySeq Project.

International newborn genome sequencing projects discuss differences, future goals
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

Data Sharing: A consortium-sanctioned activity to support global research and discovery
At the 2023 International Conference on Newborn Sequencing (ICoNS), Dr. David Bick; Dr. Nidhi Shah, G2P collaborator; and Rose Heald, G2P team member, share plans to share and harmonize data amongst newborn sequencing projects internationally.

BabySeq Project Update at ICoNS’23
At the 2023 International Conference on Newborn Sequencing (ICoNS), Drs. Robert Green and Ingrid Holm, Co-PIs of BabySeq2, share updates on the BabySeq Project.

ICoNS’23: Up/Downstream Ecosystem Panel
At the 2023 International Conference on Newborn Sequencing (ICoNS), Dr. Robert Green moderates a panel on the up and downstream ecosystem of newborn sequencing. Panelists include Dr. Vanessa Almendro from Danaher Corp, Dr. Paul Kruszka from GeneDx, and Dr. Jennifer Ibrahim from Sanofi.

ICoNS’23 Introduction with Drs. Robert Green and David Bick
Drs. Robert Green and David Bick, Co-Chairs of the International Consortium on Newborn Sequencing, share their introductory remarks at the start of ICoNS’23 in London, UK.

Bringing equity to genomic sequencing in newborns: BabySeq 2.0
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

G2P September Newsletter 2023
This newsletter highlights the International Conference on Newborn Sequencing (ICoNS) that is just around the corner on October 5-6, 2023 in London, UK. It’s not too late to register! Other G2P updates include media coverage of BabySeq1 publications, a new publication from the Sanford Imagenetics team about pharmacogenomics in primary care, and a blog post … Continued