Genetic Testing for Familial Hypercholesterolemia in Clinical Practice

Area of Science:

• Cardiovascular Genetics
• Genomic Medicine
• Preventive Cardiology

Background:

• Familial hypercholesterolemia (FH) is a common genetic disorder.
• Early diagnosis and treatment of FH are crucial for preventing cardiovascular disease.
• Genetic testing is a key tool for identifying individuals with FH.

Purpose of the Study:

• To review the current landscape of genetic testing for FH.
• To outline recommendations for FH genetic testing practices.
• To discuss efforts to improve access, availability, and uptake of FH genetic testing.

Main Methods:

• Review of current genetic testing modalities for FH.
• Analysis of expert statements and professional guidelines.
• Exploration of alternative implementation strategies for genetic testing.

Main Results:

• Genetic testing is established for FH diagnosis.
• Various alternative approaches are under investigation, including primary care and digital tools.
• No consensus exists on optimal FH genetic testing and counseling protocols.

Conclusions:

• Improving access and uptake of FH genetic testing is ongoing.
• Alternative models for FH genetic testing and counseling are being explored.
• Further evidence is required to validate novel FH genetic testing implementation strategies.