Genotype-guided diagnosis in familial hypercholesterolemia: clinical management and concerns.
OBJECTIVE
In this review, we examine benefits and concerns associated with genetic testing in the clinical management of familial hypercholesterolemia (FH).


RESULTS
Application of next-generation sequencing and other advances provide improved yield of causal mutations compared with older methods and help disclose underlying pathophysiology in many instances. Concerns regarding clinical application of genetic testing remain.


CONCLUSIONS
More widespread application of genetic testing for FH in the USA may be forthcoming. When a genetic cause of FH can be identified or is known for the family, test results can provide more accurate individual diagnosis of FH, clarification of underlying pathophysiology, and greater clinical insight. However, several concerns persist, particularly cost to FH patients, potential discrimination, and inappropriate denial of clinically indicated therapies for patients without definitive genetic testing results.
aCardiovascular Genetics Research Program, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah bThe FH Foundation, Pasadena, California, USA.
Paul N
PN
Hopkins
Stacey R
SR
Lane
D022126:Access to Information; D005820:Genetic Testing / Q000191:economics / Q000331:legislation & jurisprudence / Q000379:methods*; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D018907:Privacy