title: A qualitative study of patients' perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH).
abstract: For many years, familial hypercholesterolemia (FH), an inherited disorder, has been diagnosed using phenotypic features plus family history of early onset cardiovascular disease (CVD), and has been successfully treated using statin therapy. DNA testing is now available and this has been incorporated into familial cascade screening programmes in many parts of Europe. Little is known about patients' perceptions of the value of undergoing molecular diagnosis for FH. In-depth interviews were carried out with patients (n = 38) being treated for FH who were the first in their family to undergo DNA testing for FH. Data were analysed thematically. While interviewees regarded DNA testing as an unexceptional event, it was seen as a positive innovation because it confirmed that their family carried a particular disorder, offered an aetiological explanation for their hypercholesterolemia and provided information about their own and family members' future risks. From the patient perspective, the main benefit of molecular diagnosis lies in its ability to provide information which allows (younger) family members to access genetic screening and, thus, timely treatment. The implications for future developments in genetic services and the need to investigate further the provision of molecular testing in mainstream specialties are briefly discussed.
authors.affiliation: Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK. Nina.Hallowell@ethox.ox.ac.uk.
authors.forename: Nina
authors.identifier: http://orcid.org/0000-0002-7647-8524
authors.initials: N
authors.lastname: Hallowell
authors.affiliation: School of Media, Culture and Society, University of the West of Scotland, Edinburgh, UK.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Jenkins
authors.affiliation: Public Health/Health Policy, NHS Lothian, Edinburgh, UK.
authors.forename: Margaret
authors.initials: M
authors.lastname: Douglas
authors.affiliation: Clinical Biochemistry, Division of Reproductive and Developmental Sciences, University of Edinburgh, Edinburgh, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Walker
authors.affiliation: St John's Hospital, Livingston, UK.
authors.forename: Robert
authors.initials: R
authors.lastname: Finnie
authors.affiliation: University of Edinburgh, Edinburgh, UK.
authors.forename: Mary
authors.initials: M
authors.lastname: Porteous
authors.affiliation: Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK.
authors.forename: Julia
authors.initials: J
authors.lastname: Lawton
keywords: Familial hypercholesterolemia (FH); Genetic screening; Molecular diagnosis; Patient experience; Qualitative interviews