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Updated: Feb 19, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.4K

The impact of genetic testing on physician practice in specialized cardiovascular clinics

Arsalan Hamid1, Tyler Sewell2, Sucheta Bhatt3

  • 1Department of Medicine, Baylor College of Medicine, Houston, TX, USA (Drs Hamid, Nambi, Abushamat, and Ballantyne).

Journal of Clinical Lipidology
|February 17, 2026
PubMed

Insights

Genetic testing for familial hypercholesterolemia (FH) did not significantly alter lipid management, though LDL-C levels numerically decreased post-testing. Most participants had prior FH diagnoses, impacting outcome interpretation.

Area of Science:

  • Cardiovascular Genetics
  • Clinical Lipidology

Background:

  • Familial hypercholesterolemia (FH) is a critical genetic condition requiring prompt diagnosis and management.
  • The impact of genetic testing on clinical outcomes for FH remains incompletely understood.
  • The US CDC designates FH as a tier 1 condition for genetic testing.

Purpose of the Study:

  • To evaluate the effect of genetic testing on lipid management strategies in patients with FH.
  • To determine if genetic confirmation of FH influences clinical decision-making and patient outcomes.

Main Methods:

  • Retrospective analysis of patients with pathogenic/likely pathogenic variants for FH.
  • Comparison of laboratory values (LDL-C) and medication prescriptions before and after genetic testing.
  • Data collected from cardiology clinics at Baylor College of Medicine.

Main Results:

  • In 20 participants with APOB/LDLR variants, LDL-C levels showed a numerical decrease post-testing (103 to 79.5 mg/dL) but without statistical significance.
  • Eighty percent of participants were already under care in a lipid clinic, with most having a pre-existing FH diagnosis.
  • A trend towards increased use of PCSK9 inhibitors was observed post-genetic testing, but this did not reach statistical significance.

Conclusions:

  • While most FH patients achieved LDL-C <100 mg/dL after genetic testing, this was often in the context of prior clinical diagnosis and management.
  • Genetic testing alone may not substantially alter lipid management in patients already under specialized care.
  • Further research is needed to clarify the definitive clinical utility of genetic testing in FH management.
Abstract

Keywords:
Clinical practiceFamilial hypercholesterolemiaGeneticsLDL cholesterolLipids

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