Cancer Family History Vital in Assessing Need for Genetic Counseling
QOPI® study finds documentation often incomplete

June 1, 2013

Family history of cancer is an important factor in assessing a patient’s risk of primary and secondary cancers and need for genetic counseling. However, adequate documentation of family history is often lacking from patient records. This issue was discussed at a Pre-Annual Meeting Seminar entitled “Genetics and Genomics for the Practicing Clinician.”

Family history of cancer should include at a minimum the types of cancers in first- and second-degree relatives and their ages at cancer diagnoses, said Marie E. Wood, MD, of the University of Vermont, during her talk, “QOPI Family History Study and Recommendations.”

Dr. Wood noted that family history of cancer is an integral part of screening guidelines to identify patients who are at high risk of colorectal or breast cancer and is among the referral criteria for genetic counseling and testing. In a 2003 policy statement update, ASCO recommended counseling and testing for individuals with personal or family history suggestive of genetic cancer susceptibility.

Despite the importance of identifying a family history of cancer, however, many primary care and specialty physicians are “not very good” at actually documenting it in practice, she said.

In order to look more closely at current practices, Dr. Wood and colleagues used ASCO’s Quality Oncology Practice Initiative (QOPI^®) to assess family history taking and referral for genetic counseling and testing among QOPI participants.

Out of the 271 practices participating in QOPI in the fall of 2011, 212 (78%) opted to participate in the family history evaluation. A total of 10,466 charts were surveyed for family history measures of patients with breast or colorectal cancer (6,569 and 3,897 patients, respectively). First-degree family history was documented in 79.8% of the total charts, more often for breast than for colorectal cancer (p < 0.001). Less frequent documentation of second-degree family history was found (64.6%), again more often for patients with breast cancer than with colorectal cancer (p < 0.001).

Of the charts that contained family history documentation (7,714 in total), less than half (41.7%) indicated family member age at cancer diagnosis, and again this documentation was more common for breast than for colorectal cancer (p < 0.001). A complete family history, defined as including first- and second-degree family history and age at diagnosis, was present in less than a third (29.1%) of charts reviewed, again more frequently for breast than colorectal cancer (p < 0.001).

Among the total charts evaluated, 25.6% of patients were referred for genetic counseling and genetic testing, again more commonly for breast cancer (p < 0.001). Among those with complete family history documented, fewer than half (42.7%) were referred for genetic counseling and testing.

The study authors concluded that, although there were high rates of documentation for first-degree family history, there were low rates of documenting family member age at cancer diagnosis, which is “such an important feature for cancer diagnosis,” Dr. Wood noted. “I would argue that we can and should be doing better.”

Patients referred for genetic testing receive counseling and discuss the results with appropriate documentation, the analysis revealed. However, rates of referral for both counseling and testing are low.

“Referral rates must be higher, as this really does affect cancer care,” Dr. Wood said.