Exploring the experience, concerns and expectations of patients with suspected familial hypercholesterolaemia (FH) when undergoing genetic testing: a qualitative study / Nur Aisyah Farhana Mohamad Kamal Arifin

Familial Hypercholesterolaemia (FH) is an inherited genetic disorder with an autosomal dominant mode of inheritance. If left untreated, patients with FH are 22 times more likely to have premature coronary artery disease compared to non-FH patients. While FH can be clinically diagnosed using clinical diagnostic criteria, molecular diagnosis is still the gold standard to diagnose FH. However, genetic testing for FH is not widely available in Malaysia except through research. Additionally, the experience, concerns and expectations of patients undergoing genetic testing for FH in this country was not known. Therefore, the objective of this study was to explore the perception, experience, concerns and expectations of patients with suspected FH identified in the Ministry of Health (MOH) primary care clinics who have undergone genetic testing. This study was conducted using the qualitative research method at 11 MOH public primary care clinics in Selangor, Wilayah Persekutuan Kuala Lumpur and Putrajaya from September 2020 to October 2023. A semi-structured in-depth interview was conducted among patients who have received their genetic test results. The interviews were audio-recorded, transcribed verbatim and continued until saturation was achieved.