Gene panels may be useful, cheaper alternative to whole-genome sequencing, study finds

PUBLIC RELEASE DATE:

14-Apr-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5371 Stanford University Medical Center

STANFORD, Calif. As many as 10 percent of women with a personal or family history of breast or ovarian cancer have at least one genetic mutation that, if known, would prompt their doctors to recommend changes in their care, according to a new study by researchers at the Stanford University School of Medicine.

The women in the study did not have mutations in BRCA1 or BRCA2 (mutations in these genes are strongly associated with hereditary breast and ovarian cancer), but they did have mutations in other cancer-associated genes.

The study was conducted using what's known as a multiple-gene panel to quickly and cheaply sequence just a few possible genetic culprits selected by researchers based on what is known about a disease. Although such panels are becoming widely clinically available, it's not been clear whether their use can help patients or affect medical recommendations.

"Although whole-genome sequencing can clearly be useful under the right conditions, it may be premature to consider doing on everyone," said James Ford, MD, who directs Stanford's Clinical Cancer Genetics Program. "Gene panels offer a middle ground between sequencing just a single gene like BRCA1 that we are certain is involved in disease risk, and sequencing every gene in the genome. It's a focused approach that should allow us to capture the most relevant information."

Ford, an associate professor of medicine and of genetics, is the senior author of the study, which will be published April 14 in the Journal of Clinical Oncology. Allison Kurian, MD, assistant professor of medicine and of health research and policy, and associate director of the Clinical Cancer Genetics Program, is the study's lead author.

Ford was a co-author on a recent paper in the in The Journal of the American Medical Association that highlighted the challenges and opportunities of making whole-genome sequencing clinically available for seemingly healthy people. Although that study showed that whole-genome sequencing can be potentially life-saving, the challenges involved in sequencing the billions of nucleotides that make up all of a person's DNA, and then translating the results into clinical care recommendations, is significant.

"This study indicates that using gene panels to screen for potentially harmful variants can be clinically useful in certain groups of patients," said Kurian. "It also shows that patients, some of whom had given blood samples for research as many as 10 years earlier, are willing and interested to receive this type of follow-up information and to incorporate it into their health care plans."