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
A general overview of BabySeq and its findings, including a detailed analysis of the risks and benefits of newborn sequencing for the future.
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
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.
Green’s team plans to study whether knowing about such mutations is beneficial for the family in the long run, or results in unnecessary anxiety and tests.
The idea of newborn sequencing may have been initially inviting to parents who were expecting healthy children, but after learning of all the adverse effects that lead after, many decided to not follow through as research participants.
“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?”