Parents' views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study.

Familial hypercholesterolemia (FH) is a serious inherited disorder, which greatly increases individuals' risk of cardiovascular disease (CVD) in adult life. However, medical treatment and lifestyle adjustments can fully restore life expectancy. Whilst European guidance advises that where there is a known family mutation genetic testing is undertaken in early childhood, the majority of the at-risk population remain untested and undiagnosed.

A qualitative study of patients' perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH).

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.

Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study.

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.

How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results? A UK-based qualitative interview study.

Objective: To explore patients' interpretations of their DNA results for familial hypercholesterolemia (FH).

Methods: In-depth interviews were conducted with patients from two lipid clinics in Scotland, who were offered genetic testing as part of a nationwide cascade screening service.

Results: Patients were receptive to taking part in genetic screening and most expected a positive result.