Usefulness of cardiovascular family history data for population-based preventive medicine and medical research (The Health Family Tree Study and the NHLBI Family Heart Study)

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

“…43 Once thought to be relevant only if parental disease was "early" (the definition of which has varied in numerous studies, typically being age 55 or younger in men and age 60 in women), risk is now associated with coronary heart disease of any age of onset in any first-or second-degree relative. 44 In addition, family history is relevant for subclinical disease, such as coronary artery calcification 45,46 and the risk of sudden death during an acute coronary event.…”

The Family History: Reemergence of an Established Tool

“…The pedigree is used for many clinical and research purposes including: making a diagnosis, establishing a pattern of inheritance, identifying family members at risk, calculating risk, deciding testing and surveillance strategies, and patient education [2,[13][14][15][16]. Importantly, the pedigree facilitates a patient's understanding of disease by illustrating the central observations of a medical family history and promoting conversation that clarifies misconceptions about disease and heritability.…”

“…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.…”

Genes, diet and public health

“…With completion of the human genome sequence, it is expected that a comprehensive catalogue will soon be available of all important genetic susceptibility variants for CHD and related atherosclerotic cardiovascular disease (CVD) [4]. Although a positive family history of CHD is present in the majority of cases of premature CHD, currently, the family history of CHD has not played a central role in risk prediction and disease prevention by clinicians and public health professionals [5]. In cases of familial hypercholesterolemia and other rare forms of premature CVD, CHD often segregates in a mendelian fashion.…”