Original Research

Cancer risk assessment from family history: Gaps in primary care practice

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Most physicians obtain family histories at initial visits. If the patient’s initial visit is for symptom- or disease-related care, an opportunity to gather family history data may be lost. New tools to consistently capture comprehensive family history data at this first visit may be beneficial. Patient self-administered intake questionnaires may prove valuable in this respect, but only 6% of charts in our study contained such a questionnaire, so we cannot draw conclusions about its impact. We did observe a trend toward gathering more complete family history data in patients who used a questionnaire.

There are no clear guidelines regarding when to update a family history. We arbitrarily chose 3 years as a reasonable period for primary care providers to explore changes in family history status. Updating at any subsequent visit was recorded for 35% of patient charts in which a family history was initially taken. It is not clear that primary care providers are documenting changes in family history in any systematic way. Opportunistic updating likely occurs when a new diagnosis of serious disease in a close family member produces anxiety, stress, or concern in the patient. The value of updating family history and the ideal interval to reexamine family history are unknown.

Several conditions would need to be met for family history updating to have value. (1) A close relative must have developed an important illness in the interval since the last family history was recorded or the update must discover family information that was previously missed. (2) The illness must have a familial component that affects the estimate of the risk of the identified patient. (3) The clinician would need to be aware of the updated information. (4) The clinician must change recommendations to the patient based on this new information. Discovering a new family history of colonic neoplasm satisfies these conditions. Process measures that have the potential to improve updating include adding an update of family history as an item on a preventive care flow sheet or using periodic self-administered patient questionnaires. Whether adequate improvements in health care would occur to justify these changes in process will need to be studied. If any updating has value, determining the appropriate intervals for systematic updates deserves attention.

Charts in this study included a genogram 63% of the time, a significant increase over the 11% noted in the Direct Observation of Primary Care study.9 This discrepancy may be explained by differences in practice types because 1 study suggested a higher genogram use in academic medical centers than in community practices.16 The genogram has been cited as an attractive and efficient way to document family history,17,18 but over one fourth of the charts that contained family history in our study used the more cumbersome narrative form. Many geneticists predict that our ability to apply genetic testing will grow dramatically over the next decade. Optimal application of this new knowledge will rely on the health care system’s capacity to accurately identify risk based on assessment of family history. The 3-generation pedigree is likely to be a key tool in finding individuals who may benefit from testing. However, there is currently no standardized education in family history taking in many undergraduate and graduate medical education programs.19

Although patients with a first-degree relative with a history of polyps diagnosed at younger than 60 years are considered to be at increased risk for colorectal cancer,3 providers infrequently asked about a family history of polyps. This may reflect a recent finding that only 36% of primary care providers recommend screening at the age of 40 years for their patients with a family history of polyps in relatives younger than 60 years.20 In fact, family history data do not consistently influence behavior: in the same study, gastroenterologists asked about a family history of polyps 93% of the time, but only 37% recommended earlier screening in those with such a history.

The study is limited in its use of only 3 primary care practices, 1 of which was a large academic family practice. However, because the charts of 63 different clinicians were represented, a range of educational backgrounds and personal philosophies toward family history taking was included. Most patients (97%) had a clearly identified primary care provider and patients had been members of the practice for an average of 7.6 years. The sample was specifically chosen to review the charts of individuals who had been enrolled in the same practice for at least 1 year. This may explain the higher rates of family history taking found in this study compared with previously published studies. Given that the vast majority of charts did contain some family history, it is even more compelling that age at diagnosis of cancer was inadequately recorded. This study reflected only what was documented in the patient chart and not direct observation of physician behavior regarding the family history. It is likely that physicians are not recording all responses to inquiries about family history, although the extent of this underreporting is unknown.

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