DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

Area of Science:

• Cardiology
• Genetics
• Health Economics

Background:

• Hypertrophic cardiomyopathy (HCM) is the leading genetic heart condition and a primary cause of sudden cardiac death (SCD) in young individuals.
• Screening family members is crucial for identifying at-risk individuals and enabling preventative strategies.
• Current screening often relies on clinical assessments, but the effectiveness of genetic approaches is under investigation.

Purpose of the Study:

• To evaluate the cost-effectiveness of cascade genetic screening compared to cascade clinical screening for hypertrophic cardiomyopathy (HCM).
• To determine the most economically viable strategy for identifying individuals at risk of SCD due to HCM.

Main Methods:

• An economic decision model was utilized to compare cascade screening strategies.
• The model contrasted genetic testing approaches with traditional clinical assessment methods.
• Key economic metrics, such as the incremental cost per life year saved, were calculated.

Main Results:

• Cascade genetic screening demonstrated a favorable incremental cost per life year saved (€14,397) compared to cascade clinical screening.
• Genetic diagnostic strategies were found to be more cost-effective than relying solely on clinical tests.
• While initial costs for molecular genetic testing were slightly higher, its superior effectiveness in identifying at-risk individuals justified the investment.

Conclusions:

• Integrating molecular genetic information into the diagnosis and management of HCM represents a cost-effective strategy.
• This approach is highly effective for the primary prevention of sudden cardiac death (SCD) in families affected by HCM.
• Genetic screening offers a superior and economically sound method for managing hypertrophic cardiomyopathy.