Integrating Genetics Into Primary Care: Family History Is Key

Lorie M. Vandenbusche, RN, MSN, FNP


Topics in Advanced Practice Nursing eJournal 

In This Article

The Family History as Genetic Screen

Family history is the first genetic screen and crucial element in risk assessment. Not only is family history accessible, noninvasive, reliable, and inexpensive to obtain, but it can also influence management of disease and improve prevention efforts.

Clinicians in primary care may find it difficult to adopt the practice of obtaining thorough health histories. Some are reluctant to assess family history as a risk factor for disease because of concerns that collecting an adequate family history takes too much time, or that they will be unable to sufficiently interpret the information.[4]

In a study of family history acquisition in primary care settings, during 4454 patient visits to 138 family physicians, family history was discussed during only 51% of visits with new patients and 22% of visits with established patients.[5] In a comprehensive cancer care center, Sweet and colleagues[6] documented inadequate family history taking and a failure to identify patients at high risk of hereditary cancer. Of families at greatest risk (evidence confirming high risk of early-onset cancer or hereditary cancer syndrome), only 20% had a notation in the medical record acknowledging this risk. Only half of these high-risk family members were referred for genetic counseling. Failure to identify patients at highest risk seemed to correlate with insufficient data collection, risk assessment and documentation. If patients at highest risk of hereditary cancer are not identified, then those with less overt risk are most certainly falling through the cracks.

Some providers struggle to incorporate genetics into clinical practice because they lack knowledge about genetics with regard to health, and disease. A 2003 report found that only 29% of physicians considered themselves qualified to provide genetic counseling. Only 40% of primary care physicians felt qualified compared with 84% of oncologists.[7]

Rapid growth in gene science can outpace our ability to keep up with developments in the field. In a recent literature review, Burke and Kirk,[8]identified gaps in genetics education for nursing professionals. This finding was affirmed at a recent national nurse practitioner (NP) conference, during which NP faculty members were surveyed regarding the inclusion of genetics courses in NP curricula. Of those surveyed, 95% believed it was important to integrate genetics into NP curricula, but only 10% reported having separate genetics courses in their programs.[9]


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