Integrating Patient-Reported Outcomes Into Clinical Genetic Testing for Familial Hypercholesterolemia

Rachele M Hendricks-Sturrup; Robert Block; Christine Y Lu

doi:10.17294/2330-0698.1823

Integrating Patient-Reported Outcomes Into Clinical Genetic Testing for Familial Hypercholesterolemia

J Patient Cent Res Rev. 2021 Oct 18;8(4):336-339. doi: 10.17294/2330-0698.1823. eCollection 2021 Fall.

Authors

Rachele M Hendricks-Sturrup¹, Robert Block^{2

3}, Christine Y Lu¹

Affiliations

¹ Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA.
² Department of Public Health Sciences, University of Rochester Medical Center, Rochester, NY.
³ Cardiology Division, Department of Medicine, University of Rochester Medical Center, Rochester, NY.

Abstract

Patient-reported outcomes (PROs) and PRO measures (PROMs) are often used to help clinicians and researchers understand patients' personal concerns, feelings, experiences, and perspectives following the implementation of an intervention. Notably, PROs and PROMs can inform health systems, health policy, and payers on the utility of clinical genetic testing based on each patient's personal values, perspectives, and potential health behaviors subsequent to testing. In this topic synopsis, we discuss the underexplored role of and implications for PROs and PROMs following genetic testing for familial hypercholesterolemia (FH), an autosomal dominant genetic disorder of cholesterol metabolism that can lead to highly premature fatal and nonfatal myocardial infarction and stroke. We also discuss why the use and consideration of patient perspectives, via PROs and PROMs, are critical to the process of optimizing patient care across various FH treatment contexts. As expert clinician groups consider the latest evidence when establishing recommendations for FH genetic testing, there is a ripe opportunity for clinicians and researchers to explore the value and utility of PROs to inform and possibly improve care for patients diagnosed with FH.

Keywords: cardiovascular disease; familial hypercholesterolemia; genetic testing; implementation science; patient-reported outcomes.