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.
Fortune: No one wants to find themselves sick or in need of a medical diagnosis. But there are those out there who already are—and are desperately seeking answers.
STAT: The ever-lower cost is helping to drive fast-moving changes in sequencing. Health systems are preparing to test programs that could lead to the use of whole-genome screening in millions of newborns.
While it is safe to say that RCIGM has sufficiently proven its ability to identify the genetic variants driving many of these life-threatening rare conditions, it is now on a mission to bring its method of diagnosing sick babies to health systems across the country.
While companies and investors have learned how to profit handsomely from rare diseases, they are still a healthcare desert to most people who suffer from them.
