lunes, 18 de agosto de 2014

Cascade screening based on genetic te... [J Clin Lipidol. 2014 Jul-Aug] - PubMed - NCBI

Cascade screening based on genetic te... [J Clin Lipidol. 2014 Jul-Aug] - PubMed - NCBI

Genomics & Health Impact Update

Chronic Diseases

Cascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolemia

Ademi Z, et al. J Clin Lipidol 2014 Jul-2014 Aug;8(4):390-400

Hypertrophic cardiomyopathy: Present and future, with translation into contemporary cardiovascular medicine.

Maron BJ, et al. J Am Coll Cardiol. 2014 Jul 8;64(1):83-99.

Homozygous familial hypercholesterolemia: Ten points to remember,

American College of Cardiology, Aug 6

2014 Jul-Aug;8(4):390-400. doi: 10.1016/j.jacl.2014.05.008. Epub 2014 Jun 12.

Cascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolemia.

Ademi Z1, Watts GF2, Pang J2, Sijbrands EJ3, van Bockxmeer FM4, O'Leary P5, Geelhoed E6, Liew D7.

Author information

Abstract

BACKGROUND:

Familial hypercholesterolemia (FH) imposes significant burden of premature coronary heart disease (CHD).

OBJECTIVE:

This study aimed to determine the cost-effectiveness of FH detection based on genetic testing, supplemented with the measurement of plasma low-density lipoprotein cholesterol concentration, and treatment with statins.

METHODS:

A Markov model with a 10-year time horizon was constructed to simulate the onset of first-ever CHD and death in close relatives of probands with genetically confirmed FH. The model comprised of 3 health states: "alive without CHD," "alive with CHD," and "dead." Decision-analysis compared the clinical consequences and costs of cascade-screening vs no-screening from an Australian health care perspective. The annual risk of CHD and benefits of treatment was estimated from a cohort study. The underlying prevalence of FH, sensitivity, specificity, cost of screening, treatment, and clinic follow-up visits were derived from a cascade screening service for FH in Western Australia. An annual discount rate of 5% was applied to costs and benefits.

RESULTS:

The model estimated that screening for FH would reduce the 10-year incidence of CHD from 50.0% to 25.0% among people with FH. Of every 100 people screened, there was an overall gain of 24.95 life-years and 29.07 quality-adjusted life years (discounted). The incremental cost-effectiveness ratio was in Australian dollars, $4155 per years of life saved and $3565 per quality-adjusted life years gained.

CONCLUSION:

This analysis within an Australian context, demonstrates that cascade screening for FH, using genetic testing supplemented with the measurement of plasma low-density lipoprotein cholesterol concentrations and treatment with statins, is a cost-effective means of preventing CHD in families at risk of FH.