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

Authors

Rachele M. Hendricks-Sturrup, Harvard Pilgrim Health Care Institute and Harvard Medical SchoolFollow
Robert Block, University of Rochester Medical CenterFollow
Christine Y. Lu, Harvard Pilgrim Health Care Institute and Harvard Medical SchoolFollow

Publication Date

10-18-2021

Keywords

patient-reported outcomes, genetic testing, familial hypercholesterolemia, implementation science, cardiovascular disease

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.

Recommended Citation

Hendricks-Sturrup RM, Block R, Lu CY. Integrating patient-reported outcomes into clinical genetic testing for familial hypercholesterolemia. J Patient Cent Res Rev. 2021;8:336-9. doi: 10.17294/2330-0698.1823