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

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.

A novel approach to screening for familial hypercholesterolemia in a large public venue

“…Individuals felt it was their responsibility to discuss their results with their family and disagreed that it was the physician's responsibility to inform the participant's family. Our results are similar to patient interviews of 38 index FH cases which showed that patients were in favor of genetic testing and cascade testing (Hallowell et al 2011). This is consistent with other studies that conducted focus groups to obtain opinions about the process of communicating their results of genetic testing for cancer causing genes (Forrest et al 2003;Hallowell et al 2005).…”

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

“…With consent of the proband, direct contact has been used for Familial hypercholesterolaemia in the UK and the Netherlands and is accepted by family members, 35 although a recent study finds that family members prefer indirect cascading. 36 Familial hypercholesterolaemia differs from HCM and LQTS in that diagnosis, assessment of risk and treatment are relatively uncomplicated and the disease process (coronary heart disease) widely known and understood. Ethical considerations are inherent to both approaches.…”

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

“…The data suggest that DNA testing undertaken within a mainstream lipid clinic is not perceived as an exceptional or anxiety provoking experience (see also Jenkins et al 2011;Hallowell et al 2011). Saukko et al (2006) similarly report that individuals undergoing screening for genetic susceptibility to thrombophilia in primary and secondary care see this procedure as generating useful information, but not as an unexceptional or unusual event.…”