Family history: Still relevant in the genomics era

CHALLENGE 2: NO TIME OR REIMBURSEMENT

Perhaps the most obvious barriers to collecting a family history are lack of time and reimbursement.

Acheson et al,¹⁷ in an observational study of 138 primary care physicians and 4,454 patient visits, found that family history was discussed during 51% of new patient visits and 22% of established patient visits. The rate at which the family history was taken varied from 0% (some physicians never asked) to 81% of all patient visits. On average, physicians spent less than 2.5 minutes collecting the family history.

Not surprisingly, the family history was discussed more often at well-care visits than at illness visits, as the former type of visit tends to be longer and, by definition, to be spent partly on preventive care. A difficulty with this strategy is that, given the shortage of primary care physicians, limited access, and patient preference, most preventive-care visits are combined with problem-focused visits, further decreasing the time available to collect and discuss a family history. While some argue that the family history should routinely be obtained and discussed during preventive-care visits regardless of reimbursement and time, the reality is that it may simply drop on the list of priorities for each visit.

Rich et al³ estimated that taking a family history would increase reimbursement for only one new patient evaluation and management code (99202) and one return-visit code (99213) in Current Procedural Terminology. This action would increase reimbursement enough to support about 10 minutes of physician effort for collecting, documenting, and analyzing the family history. While this is certainly better than the average of less than 2.5 minutes observed by Acheson et al,¹⁷ doctors would probably do it more if they were paid more for it.

Electronic solutions

Given that a lack of time is a barrier, what are some ways to minimize the time it takes to collect a family history?

With more physicians using electronic health records and with increasing use of Internet-based tools in the population at large, information-technology systems have been developed to help obtain the family history. One of the most widely used is the US surgeon general’s My Family Health Portrait, available free at https://familyhistory.hhs.gov. It is one of the broadest electronic family-history collection tools and has been validated for use in risk assessment for diabetes and cancer of the colon, breast, and ovaries.²²

However, electronic solutions have their own challenges. Not all patients have access to the Internet, many need help using these programs, and these tools may not work well with existing electronic medical records systems.²³ Ideally, these programs would also provide built-in decision support for the provider, thereby maximizing data use for final patient risk assessment.²³ Furthermore, electronic solutions are not a one-time-only risk assessment— periodic re-review of family history and reassessment of familial risk are required.²⁴

Does taking a family history improve outcomes? Lessons from breast cancer

One of the reasons physicians don’t get reimbursed for collecting a family history is that it has been difficult to measure any improvement in outcomes associated with risk prediction through family history.

The best examples of improvement in outcomes associated with family history-based risk prediction come from studies of breast cancer. From 5% to 10% of cases of breast cancer are part of hereditary cancer syndromes, many of which have a known genetic cause. The most prevalent of these genetic syndromes is the hereditary breast and ovarian cancer (HBOC) syndrome, caused by mutations in the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes. Clinical testing for BRCA mutations has been available since 1998.²⁵ Women with a BRCA mutation have up to a 65% lifetime risk of developing breast cancer and up to a 40% lifetime risk of developing ovarian cancer.²⁶ Men with a BRCA mutation are at 10 to 100 times the risk of the general population (1% to 10% vs 0.1%) for developing breast cancer, and are also at higher risk of prostate and other cancers.²⁷

People who have a relative who developed breast cancer at a young age are more likely to harbor one of these mutations. For example, based on genetic testing in more than 185,000 people, the prevalence of BRCA mutations among people without cancer, not of Ashkenazi Jewish ancestry (a risk factor for breast cancer), and with no family history of early breast cancer or of ovarian cancer in any relative is 1.5%.²⁸ In contrast, people with no personal history of cancer who have a family history of breast cancer before age 50 have a 5.6% prevalence of BRCA mutation, and if they are of Ashkenazi Jewish ancestry, this number is 16.4%.²⁸

Medical and surgical interventions are available to reduce the risk of cancer in people with hereditary cancer syndromes such as HBOC. Options include screening more often, using advanced screening tests,²⁹ giving preventive drugs such as tamoxifen (Nolvadex), and prophylactic surgery.^30–32 What is the evidence that early screening and intervention in these people improve outcomes?

Domcheck et al³³ prospectively followed more than 2,400 women who had BRCA mutations to assess the effect of prophylactic mastectomy or salpingo-oophorectomy on cancer outcomes. Mastectomy was indeed associated with a lower risk of breast cancer: 0 cases of breast cancer were diagnosed in 3 years of prospective follow-up in the 247 women who elected to undergo mastectomy, compared with 98 cases diagnosed in the 1,372 women who did not elect it over a similar period.

Women who elected to undergo salpingo-oophorectomy had a similarly lower rate of ovarian cancer compared with those who did not elect surgery (1% vs 6%). Additionally, fewer women who elected prophylactic salpingo-oophorectomy died of any cause (3% vs 10%), died of breast cancer (2% vs 6%), or died of ovarian cancer (0.4% vs 3%) compared with women who did not elect surgery.

Taking a family history reduces costs

What is the evidence that appropriate use of the family history decreases health care costs? Let us continue with the example of HBOC syndrome due to BRCA mutations.

Given that germline mutations account for 5% to 10% of cases of breast cancer in the United States and that the women who develop cancer associated with such mutations do so at a relatively young age, these mutations account for a disproportionate share of life-years lost due to cancer.³⁴ Through taking a family history, these women at high risk can be identified and referred for genetic testing. Genetic testing, though costly, is more cost-effective than diagnosing and treating cancer.

Anderson et al,³⁴ in 2006, estimated that cost-effective policies on testing and preventive treatment for persons at high risk of breast cancer could save up to $800 million of the more than $8 billion spent each year on breast cancer diagnosis, prevention, and treatment.

Kwon et al,³⁵ in a simulation model (not a study in real patients), compared four different criteria for BRCA testing in women with ovarian cancer to see which strategy would be most cost-effective in preventing breast and ovarian cancers in their first-degree relatives. The best strategy, according to this analysis, is to test women with ovarian cancer for BRCA mutations if they also have a personal history of breast cancer, have a family history of breast or ovarian cancer, or are of Ashkenazi Jewish ancestry. The estimated cost per life-year gained with this strategy was $32,018, much lower than the widely accepted threshold for cost-effectiveness of $50,000 per life-year gained.

Although many professional organizations, including the US Preventive Services Task Force, have endorsed family-history-based eligibility criteria for genetic counseling and BRCA testing, awareness of the value of genetic testing in people who have been prescreened by family history has been relatively slow in seeping out to insurance carriers, especially Medicaid.^12,36 As evidence continues to accumulate showing that this approach can improve outcomes for at-risk family members, reimbursement and time allotted for obtaining and using the family history should be adjusted.