Study suggests this as alternative to whole genome sequencing
By Robert Preidt
MONDAY, April 14, 2014 (HealthDay News) -- A new study found that 10 percent of women with a personal or family history of breast or other cancers had at least one gene mutation that would lead their doctors to recommend changes in their routine care, including increased cancer screening.
These women did not have BRCA1 or BRCA2 mutations that are strongly associated with hereditary breast and ovarian cancer. However, they had mutations in other genes known to be linked with cancer, the Stanford University School of Medicine team said.
For the study, the researchers used what is called a multiple-gene panel -- rather than whole genome sequencing -- to sequence specific genes more quickly and cheaply. Whole genome sequencing is a laboratory process that involves "reading" all the characteristics of your DNA.
"Although whole-genome sequencing can clearly be useful under the right conditions, it may be premature to consider doing on everyone," study senior author Dr. James Ford, director of Stanford's clinical cancer genetics program, said in a university news release.
The researchers analyzed blood samples collected from 198 women who were part of the clinical cancer genetics program between 2002 and 2012. Of those women, 57 had BRCA1/BRCA2 mutations and 14 had mutations in 42 other genes associated with cancer.
Of those 14 women, 11 could be reached by telephone and 10 of them agreed to a follow-up appointment with a genetic counselor and a cancer specialist to discuss their test results. One woman had died since giving her blood sample, but her family members also accepted counseling.
Six of the women were advised to have annual breast MRIs and six were told to have regular screenings for gastrointestinal cancers. Some of the women were given more than one recommendation, according to the study published April 14 in the Journal of Clinical Oncology.
"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," said Ford, an associate professor of medicine and of genetics. "It's a focused approach that should allow us to capture the most relevant information."
However, more research is needed before gene-panel screenings could become routine, the researchers said.
The American Academy of Family Physicians has more about genetic testing.
SOURCE: Stanford University, news release, April 14, 2014
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