Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study
- 2 September 2011
- journal article
- research article
- Published by Springer Science and Business Media LLC in Journal of Community Genetics
- Vol. 2 (4), 249-257
- https://doi.org/10.1007/s12687-011-0064-y
Abstract
Familial DNA cascade screening for familial hypercholesterolemia (FH) has recently been introduced in Scotland. This study investigated index patients' experiences of DNA testing and mediating cascade screening. Thirty-eight patients with a clinical diagnosis of definite or possible FH who had undergone DNA testing in the lipid clinic took part in semi-structured qualitative interviews. All patients were positive about DNA screening being undertaken by familiar and trusted clinicians within the lipid clinic. Most patients had already cascaded close relatives for serum cholesterol testing following their attendance at the lipid clinic. Identified mutation carriers who had attended the genetics clinic (n = 15) for a cascading appointment described finding this consultation helpful because it identified other at-risk family members and provided them with tailored information for their relatives. Participants who expressed a preference said they favoured indirect (patient-mediated) methods of cascading as they considered indirect approaches to be less threatening to family members than direct clinical contact. We conclude that DNA screening and indirect familial cascading is perceived as highly acceptable to index patients with FH. However, while indirect cascading methods may be more acceptable to patients, they do not yield the same numbers as more direct methods. There is, therefore, a need for further systematic research to investigate patients', family members' and staff views of the acceptability of direct versus indirect methods of cascade screening.Keywords
This publication has 28 references indexed in Scilit:
- Cascade screening for familial hypercholesterolaemia in ScotlandBritish Journal of Diabetes, 2010
- Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemiaHeart, 2008
- Comparison of Genetic Versus Clinical Diagnosis in Familial HypercholesterolemiaThe American Journal of Cardiology, 2008
- Family communication regarding inherited high cholesterol: Why and how do patients disclose genetic risk?Social Science & Medicine (1982), 2007
- Should healthcare providers have a duty to warn family members of individuals with an HNPCC-causing mutation? A survey of patients from the Ontario Familial Colon Cancer RegistryJournal of Medical Genetics, 2007
- Cascade testing in familial hypercholesterolaemia: how should family members be contacted?European Journal of Human Genetics, 2005
- Cascade genetic screening for familial hypercholesterolemiaClinical Genetics, 2004
- Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trialAmerican Journal of Medical Genetics Part A, 2004
- Screening for familial hypercholesterolaemia in relativesThe Lancet, 1995
- Basics of Qualitative ResearchJournal of Marketing Research, 1992