A qualitative study of patients’ perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH)
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- 作者：Nina Hallowell ; Nicholas Jenkins ; Margaret Douglas…
- 关键词：Familial hypercholesterolemia (FH) ; Molecular diagnosis ; Patient experience ; Qualitative interviews ; Genetic screening
- 刊名：Journal of Community Genetics
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：8
- 期：1
- 页码：45-52
- 全文大小：
- 刊物主题：Human Genetics; Public Health; Epidemiology; Gene Therapy; Gene Function;
- 出版者：Springer Berlin Heidelberg
- ISSN：1868-6001
- 卷排序：8
文摘
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.