~Data gathered from the Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) Consortium, co-funded by NHGRI and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, addresses the clinical and ethical questions that arise from newborn genome sequencing. Their paper in Pediatrics examines these issues and describes research concerning parental decision-making, clinical utility and the psychosocial impact of generating genomic information from newborns.
In 2010, the National Institutes of Health Common Fund and the United Kingdom's Wellcome Trust, in partnership with the African Society of Human Genetics, introduced the Human Heredity and Health in Africa (H3Africa) program to support African scientists conducting research on the genetic and environment factors of diseases. Five years after the program's first grants were awarded, researchers are building collaborative research networks and making discoveries about genetics and human health.
NHGRI is pushing beyond current capabilities in genome sequencing. New funding awards, totaling approximately $6.7 million, are part of a technology investment that began in 2004. The aim is to advance the development of genome sequencing technologies that are faster, cheaper, and more accurate and sensitive than those we already have.
New NIH grants will fund developing computational approaches to finding the differences in DNA that make people susceptible to disease. The awards, totaling around $11.1 million, support research in identifying these differences - or genetic variants - in the less-studied regions of the genome. Understanding these variants should provide clues to understanding how disease develops.
The practice of medicine is expensive and doesn't fit in a one-hour time frame. Tests can only eliminate one diagnosis at a time. Questioning and family history can help a doctor arrive at the correct diagnosis. But even with the information gathered upfront, there are a huge number of tests to consider, and many tests may still be needed. Training doctors to use genomic sequencing is a powerful solution to the challenges today's medical practice.