Patients’ Perceptions and Experiences of Familial Hypercholesterolemia, Cascade Genetic Screening and Treatment

Abstract

Findings support the adoption of direct methods of recruitment to cascade screening led by medical professionals, who were perceived as having greater authority. Other implications included the need for clinicians to provide clear information, particularly to those who are asymptomatic, related to the seriousness of FH and the necessity for adherence to medication and lifestyle changes.

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

“…There was evidence that DNA testing had a positive effect on identity, it not only established one's identity as a person with a familial or genetic disease but also confirmed that one is managing hypercholesterolemia in appropriate ways (Hardcastle et al 2015). Indeed, the implicit value of molecular diagnosis in this respect was reinforced by the responses of some of those who received an inconclusive result, who appeared to struggle with ongoing uncertainty about personal and familial risks and risk management.…”

“…Inconclusive Discussion This paper has explored patients' views of the use of DNA technologies in the diagnosis of FH. The data suggest that undergoing molecular diagnosis only had a modest impact upon interviewees, which may be due to the fact that receiving a DNA test result (or not) did not change the ways they managed their hypercholesterolemia Senior et al 2002;Hollands et al 2012;Hardcastle et al 2015). However, while DNA testing may have had little effect on risk management behaviour and intentions, it was perceived as having some benefits: it provided an aetiological explanation and diagnostic label, confirmed current risk management practises, absolved individuals of blame for their hypercholesterolemia and provided information which other family members could use to access timely diagnoses and treatment (See Hallowell et al 2003).…”

“…Indeed, despite the fact that FH objectively increases individuals' risk of CVD if left untreated, it was clear that our interviewees did not perceive FH as a particularly risky or threatening condition, when compared with cancer and neurological disorders, therefore, confirming their diagnosis of FH was not seen as personally threatening. This view may be based upon their experiences of successfully (and easily) treating their hypercholesterolemia with statin therapy Hollands et al 2012;Hardcastle et al 2015); alternatively, it may be due to the fact that cultural conceptions of cancer and CVD are very different. Finally, it must be noted the drawing of downward social comparisons to modulate risk was also observed by Senior et al (2002), who report that some patients in their study described the risks of CVD caused by FH as comparing favourably with those of other genetic diseases such as sickle cell disease.…”

International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?

“…Risk perception is personal and may be influenced by past experiences in the family. Face-to-face interviews with Australian patients involved in the local genetic cascade screening program aimed to determine their perceptions and experiences in relation to their health behaviors 98) ; most patients demonstrated understanding that FH was a permanent genetic condition. However, severity of risk perception was aligned with a personal or a family's past experiences of symptomatic FH.…”

Translational Research for Improving the Care of Familial Hypercholesterolemia: The “Ten Countries Study” and Beyond

“…The factors include attitudes, motives, and beliefs toward treatment, including drug and self-management behaviors, beliefs in medication, FH illness perceptions, and health literacy. Measures will be based on previous research and will be informed by a preliminary qualitative study 50) . Key clinical and behavioral outcomes will also be collected from patient records in the collaborating clinics.…”