“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
“By screening apparently healthy newborns, entire families were alerted for the first time that dangerous but treatable genetic variants were present,” said corresponding author Robert C. Green, MD, MPH, a physician-scientist at Brigham and Women’s Hospital and professor of genetics at Harvard Medical School, who leads the BabySeq Project. “We were stunned to see that … 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
Shaye Williams, G2P’s operation coordinator and diversity, equity, and inclusion lead, shares the story of her career transition into genomics research. After being introduced to genetic counseling as a prenatal patient, Shaye pursued an internship with G2P to learn more about the profession.
“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.”
“Findings from a new study led by researchers at Mass General Brigham suggest that rare disease experts are now in favor of more expansive newborn testing. In a study published today in JAMA Network Open, 88 percent of rare disease experts agreed that DNA sequencing to screen for treatable childhood disorders should be made available … Continued