MedPage Today: Whole genome sequencing captured almost twice as many genetic abnormalities that may be responsible for disease in infants, compared with a standard targeted test, researchers found.
GENETIC ENGINEERING & BIOTECHNOLOGY NEWS: A national study, led by researchers at Tufts Medical Center, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.
STAT NEWS: There’s growing evidence that DNA sequencing can help diagnose the health care system’s youngest patients — babies in their first year of life. But a new report resurfaces a thorny challenge in researchers’ quest to turn long strings of A’s, T’s, G’s, and C’s into information doctors and patients can use: Reading the genome is one challenge, interpreting it is another.
U.S. NEWS & WORLD REPORT: Identifying genetic disorders in newborns and infants can help them get the care they need, but one approach -- whole genome sequencing -- appears far superior to another.
Targeted genome sequencing was found to deliver routine results more quickly and at a lower cost; lack of standardization in analytic techniques remains a barrier to diagnosis and medical care for genetic disorders in the first year of life.