Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters

Abstract

P15.12C Identifying undetected Familial Hypercholesterolaemia (FH) in the general population - perspectives of primary health care professionals in the UK Introduction: Familial hypercholesterolaemia (FH) is one of the most common inherited autosomal dominant disorders, causing elevated low-density lipoprotein (LDL) cholesterol levels. Left untreated this causes premature coronary heart disease and mortality yet most cases remain undiagnosed. Early detection and effective preventive intervention is a national priority in the UK and other countries. This research formed part of a prospective evaluation of the clinical utility and acceptability of a new FH case nding tool (FAMCAT) applied to patient records in routine clinical primary care practice. Materials and Methods: Qualitative semi-structured interviews (n=20) were carried out with a purposeful sample of primary care health professionals (GPs, nurses, heath care assistants) and practice managers selected from 10 UK primary care practices who had implemented and used the FAMCAT tool. Following case nding of patients at highest risk of FH, practices either initiated genetic testing on site or referred to other services. All interviews were transcribed and analysed thematically. Results and Conclusions: Primary care practitioners recognised and welcomed the bene t of adopting a more systematic approach to identi cation of patients with undetected FH in their practice populations. They found application of the FAMCAT tool was acceptable and fea- sible in practice, and that genetic testing could be realised on site. However, implementing more routine identi cation of, and genetic testing for, FH in primary care should ensure adequate provision is made for increases in workload and resource use whilst taking into account the local organisa- tional infrastructure at each primary care practi