The genetic family history as a risk assessment tool in internal medicine

The family history: the first genetic test, and still useful after all those years?

“…Only 11% of patient charts documented the family history. Frezzo et al 35 studied 78 patients evaluated in a general internal medicine clinic and randomized them to either a pedigree interview or to a questionnaire about family history. They found that either of these methods improved on what was recorded in the medical records; both the oral and questionnaire methods were more sensitive than standard practice in identifying the 80% who were at increased risk of some disorder.…”

The Family History: Reemergence of an Established Tool

“…Further, when family history was discussed it was allotted less than three minutes time. Taken together, these findings suggest that family history is selectively performed, abbreviated in nature and suboptimally maintained [22,23]. The authors point out that time constraints in most health care settings including the clinic make it difficult to complete an abbreviated family history let alone a detailed or updated family history.…”

“…For example, single nucleotide polymorphisms (SNPs) have been associated with an increased susceptibility or predisposition to disease. While family history has been established as an independent risk factor for many common complex diseases, including coronary artery disease, hyperlipidemia and type 2 diabetes [4,13,14,23,30,31], there is an increasing appreciation that polymorphisms may also identify disease susceptibility complementing the family history. Identification of a genotype in the presence or absence of a positive family history prior to the manifestation of disease may have significant implications.…”

Family History in Primary Care Pediatrics

“…In 1 such study of family physicians, family history was discussed during only 24% of visits on average, and there was significant variation between providers, ranging from 0% to 81% of a given provider' s visits. 14 Frezzo et al 16 reported that 20% of patients in an internal medicine clinic were at increased risk for disorders with known genetic contribution, but this risk was not noted in their medical charts.…”

“…Unfortunately, few of these tools, including those developed for use in the primary care setting, have been validated. 17 Frezzo et al 16 have developed 1 of the few family history tools for primary care adult medicine that has been validated against a gold standard (eg, an interview by a genetic counselor). No validated pediatric family history tools exist.…”