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Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study
Nina Hallowell1, Nick Jenkins, Margaret Douglas
1Institute of Health and Society, Newcastle University, Newcastle, UK, Nina.Hallowell@ncl.ac.uk.
Insights
Familial DNA screening for familial hypercholesterolemia (FH) is well-accepted by patients in Scotland. While indirect cascading is preferred, direct methods identify more relatives, necessitating further research on optimal approaches.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Public Health
Background:
- Familial hypercholesterolemia (FH) is an inherited condition increasing cardiovascular risk.
- Scotland has introduced familial DNA cascade screening for FH.
- Understanding patient experiences is crucial for effective implementation.
Purpose of the Study:
- To investigate index patients' experiences with DNA testing for FH.
- To explore patients' perspectives on mediating familial cascade screening.
- To compare patient preferences for direct versus indirect cascade screening methods.
Main Methods:
- Semi-structured qualitative interviews were conducted with 38 patients diagnosed with FH.
- Participants had undergone DNA testing within a lipid clinic setting.
- Experiences with both DNA testing and cascade screening were explored.
Main Results:
- Patients reported positive experiences with DNA screening conducted by trusted clinicians.
- Most patients initiated serum cholesterol testing for relatives.
- Mutation carriers found genetics clinic consultations helpful for identifying at-risk family members and providing tailored information.
- Indirect (patient-mediated) cascading was preferred by some patients as less threatening.
- Indirect methods, however, identified fewer relatives compared to direct methods.
Conclusions:
- Familial DNA screening and indirect cascading are perceived as highly acceptable by FH index patients.
- A trade-off exists between patient preference for indirect cascading and the number of relatives identified.
- Further research is needed to evaluate the acceptability of direct versus indirect cascade screening methods among patients, family members, and staff.
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. However, while indirect cascading methods may be more acceptable to patients, they do not yield the same numbers as more direct methods. There is, therefore, a need for further systematic research to investigate patients', family members' and staff views of the acceptability of direct versus indirect methods of cascade screening.
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