Phenotyping and genotyping patients with cardiovascular risk factors.

Abstract

Complex diseases require precise phenotyping if their genetic basis is to be properly understood. This process is more complex than the analysis used for monogenic diseases. Collecting family phenotypic data is costly and time consuming, making such studies difficult. We have developed a family-oriented, field working approach that relies on index patients, their primary-care physicians, and a minimum number of field working staff. The index patients recruit family members by distributing packs containing the materials necessary for participation. Computer analysis of the data returned enables construction of the medical family tree. We have extended this genetic field working approach to patients with lipid disorders, arterial hypertension, non-insulin-dependent diabetes mellitus, and the 'Metabolic Syndrome'. Data from these groups can be used to identify susceptibility genes for premature arteriosclerosis. We describe a cost-effective methodology that can be used in the primary-care setting to identify 'at-risk' patients and facilitate effective targeting of limited health-care resources.