As part of an effort to prepare the way for the future of high-throughput human genome sequencing in medicine, NHGRI has launched a new pilot project to study the DNA of 400 individuals to determine specific genetic risk factors for disease.
First announced by NHGRI scientist Eric Green at The Biology of Genomes, a conference held in May at Cold Spring Harbor Laboratory, clinENCODE, as the project is known, will attempt to break the ice for future genome sequence-based ventures into personalized medicine by preemptively tackling infrastructure and ethical issues.
As the study is currently envisioned, 400 people will submit to a physical exam and provide information on their own and their family’s medical history. In conjunction, the volunteers will provide DNA samples, which NHGRI scientists will use to sequence the same relatively well-characterized 30 megabase stretch of each individual’s genome, looking for patterns that correlate with a person’s health — both now and in the future.
Additionally, participants in the study, which will be directed by NHGRI researcher Les Biesecker, will be asked to provide their thoughts on participating in such a study, and their reactions if and when they learn they may have a propensity for certain medical conditions.
The 30 megabase region to be investigated — about one percent of the human genome — was first identified through the NHGRI’s ENCODE (Encyclopedia of DNA Elements) project as having particular relevance to human health status. The researchers should begin enrolling subjects by mid-fall, and within 18 months may be finished sequencing the genomic regions of all 400 participants using Applied Biosystems sequencers at the US National Intramural Sequencing Center, according to Biesecker. The clinENCODE pilot project will also attempt to address data infrastructure issues, including quality control and data management systems for anonymized sequences.
— John S. MacNeil