National Study to Examine Risks, Benefits in Emergent Whole Genome Sequencing
News Mar 19, 2013
Improving technologies are rapidly cutting the cost of whole genome sequencing, a process that reveals the complete library of a patient’s genetic information. Indeed, the era of the $1,000 genome — a catchphrase for the test’s relative affordability — appears imminent.
But will the wider application of this encyclopedic option in personalized medicine help patients and health care providers prevent and more effectively treat diseases, or will it open a Pandora’s Box of confusion, fears, and costly, unnecessary treatments?
UCSF School of Pharmacy faculty member Kathryn Phillips, PhD, will lead the first national study to analyze how physicians and patients in the general population, as well as those given whole genome sequencing results in a clinical trial, evaluate the benefits and risks posed by this profusion of genetic information. The project will address questions such as:
• How much do patients want to know?
• How do patients and physicians assess the significance and usefulness of these tests’ myriad potential findings?
• Which findings call for medical intervention versus monitoring?
• What about likely future conditions that currently cannot be treated?
The four-year, $2.4 million project, “Benefit-Risk Tradeoffs for Whole Genome Sequencing,” recently funded by the National Human Genome Research Institute (NHGRI), will also be the first to systematically examine the overall implications of such testing for the health care system and for society by considering, for example:
• When should complete genome sequencing be recommended by health care providers and covered by insurers as clinically useful?
• Will the economic value of preventing disease or more effectively targeting treatments outweigh the costs of the initial whole genome sequencing testing, plus additional testing and treatments its results may generate?
• How can whole genome sequencing findings be most appropriately and effectively applied?
In a new study in cells, University of Illinois researchers have adapted CRISPR gene-editing technology to cause the cell’s internal machinery to skip over a small portion of a gene when transcribing it into a template for protein building. This gives researchers a way not only to eliminate a mutated gene sequence, but to influence how the gene is expressed and regulated.
Researchers published today a detailed description of the complete genome of bread wheat, the world's most widely-cultivated crop. This work will pave the way for the production of wheat varieties better adapted to climate challenges, with higher yields, enhanced nutritional quality and improved sustainability.