Consanguinity and genetic morbidity in a British primary care setting: a pilot study with trained linkworkers

To assess the feasibility of detecting consanguineous relationships and significant genetic morbidity through screening pedigrees administered by a primary care trained linkworker.

A case-controlled crossover study with pedigree recording by both genetic nurse specialists and a primary care worker. From 1012 records of British Pakistani patients registered with an inner city practice, 14 women, identified as having increased genetic risk, were recruited (Group 1). A further 14 age- and parity-matched women, with no indication of genetic morbidity in their General Practice records (Group 2), were also recruited.

Valuable genetic information, not recorded in General Practice records, were ascertained through the screening pedigrees, in four members of Group 1 (29%) and six members of Group 2 (43%). There was poor agreement between the coefficients of inbreeding recorded from pedigrees prepared by the primary care worker and genetic nurse specialists (Kappa = 0.157; 95% CI 0.028-0.286).

Pedigrees can be utilized as a General Practice screening tool to detect relevant genetic morbidity, not ascertained in General Practice records. The process is enhanced when a primary care worker, from the same culture as the volunteers, collects information using the patients' mother tongue.