The BabySeq project seeks to safely test a new approach to newborn screening using whole genome sequencing while prioritizing the inclusion of a diverse, nationally representative cohort of families. Infants who receive genome sequencing will have their DNA analyzed for thousands of health risks that could affect their medical care in childhood.
The Power of Genetics
Newborn genomic sequencing has the potential to supplement and expand existing newborn screening, by simultaneously screening for thousands of disorders that newborns could be at risk for developing during childhood. Earlier diagnosis of these conditions could in turn lead to specific screening, surveillance, and treatment options, allowing for more personalized and preventive healthcare.
About the Project
We plan to enroll 500 new babies in Boston, MA; New York City, NY; and Birmingham, AL and prioritize inclusion of a diverse, nationally representative cohort of families.
Infants who receive genome sequencing will have their DNA analyzed for thousands of health risks that could affect their medical care in childhood and highly actionable adult-onset conditions that could impact parents’ health. We will work with community members as partners throughout every step of the study, especially new parents who identify as Black/African American and/or Hispanic/Latinx.
Learn more at the BabySeq website!
Preliminary results reveal that in newborns there were….
“The results from our study...will help inform the effective and responsible application of newborn genomic sequencing in wider medical practice.”
Listen to one family’s story
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.
Donation Information
To donate by check, wire transfer, or Donor Advised Fund please use the instructions here. To donate by credit card online please use the button below, which will redirect you to the Brigham and Women’s Hospital Donation Page.
2023 Goals
$50,000
BabySeq Platinum
Enroll 6 babies and follow long-term to change lives and maximize BabySeq’s impact.
$18,000
BabySeq Gold
Introduce 3 additional babies in the project.
$6,000
BabySeq Silver
Introduce 1 baby to the project.
$1,000+
BabySeq Bronze
Support general BabySeq research.