Pilot Study Evaluates a Proposed Quality Measure for Family History Collection and Genetic Testing Referral

Only half of those with breast cancer and one-quarter of those with colon cancer were referred for genetic counseling or testing by their physicians.

Marie Wood, MD

Of the cancer patients in a retrospective study who were appropriate candidates for genetic counseling or testing, half of those with breast cancer and one-quarter of those with colon cancer were referred for such services by their physicians. In addition, while most of the community oncology practices that participated in the study gathered first-degree family histories of cancer from their patients, less than two-thirds collected second-degree histories that would have been helpful in determining the need for genetic counseling or testing, according to study results presented during the 48th Annual Meeting of the American Society of Clinical Oncology (ASCO).

The study was a pilot test of new measures being considered under ASCO’s Quality Oncology Practice Initiative (QOPI) to evaluate the practice of family history collection and referral for genetic counseling and testing in patients with breast cancer or colorectal cancer–conditions that, in some cases, are hereditary. QOPI is a national quality assessment and improvement program involving more than 750 registered oncology practices across the country that is designed to measure care provided in outpatient oncology practices against evidence-based and expert consensus care recommendations, and therefore inform quality improvement activities, according to a statement released by ASCO.

“An accurate family history and appropriate referral to genetic testing has important implications for the treatment and follow-up of patients, as well as for their family members. When you identify patients with a genetic alteration, we then can manage those patients with additional screening, and they may be candidates for different prevention strategies,” said lead study author Marie Wood, MD, professor of medicine, director of the Familial Cancer Program and deputy director of hematology/oncology at the University of Vermont, in Burlington. “We found that community oncologists were better at documenting family history information than we thought they would be, but there is room for improvement. Referral rates must be higher, as this really impacts cancer care.”

OncLive TV Exclusive

Dr. Wood on Family Histories and Genetic Counseling

In the study conducted in the fall of 2011, 212 practices examined a total of 10,466 patient charts. The study found that nearly 80% of the charts documented first-degree family histories of cancer, 61.5% reflected information about second-degree family cancer histories, and 42% showed the ages at which relatives had been diagnosed with cancer–important, Wood said, since incidences of cancer in younger people are red flags for hereditary disease. First-degree relatives are parents, siblings, and children. Second-degree relatives are aunts, uncles, grandparents, nieces, or nephews.

Twenty-two percent of the charted patients were referred for genetic counseling or testing, and among participating patients who met National Comprehensive Cancer Network guidelines signaling the potential for hereditary cancer, 52% of breast cancer patients and 26% of colon cancer patients were referred. When genetic testing was performed by the practice that recommended it, consent was documented 77.7% of the time, and results were discussed with 78.8% of patients.

The reason for the lower rate of family history collection and genetic-services referral for patients with colon cancer has yet to be analyzed by the study’s authors, Wood said.

Physicians and patients need to be educated about identifying hereditary cancer because the genetics of the disease are such a new area, she said.

To help make that happen, Wood is involved in a task force of ASCO’s Cancer Prevention Committee–separate from the study–that is developing quick and easy-to-use guidelines for family history-taking among oncologists and working to raise awareness about the importance of taking family histories, so that physicians will be more likely to refer appropriate patients for genetic counseling or testing.

Ultimately, Wood said, that awareness may save lives.

“We know that 16% of all cancers are second primary cancers,” she said. “For cancer survivors, if you identified those people who are at risk for a second primary cancer and did additional screening, you might actually be able to prevent cancer and decrease mortality.”

Wood M, Kadlubek P, Lu KH, et al. Quality of cancer family history and referral for genetic counseling and testing among oncology practices: A pilot test of quality measures as part of the ASCO Quality Oncology Practice Initiative (QOPI). J Clin Oncol. 2012;30(suppl; abstr CRA1505).


View more from the 2012 ASCO Conference