September 18, 2013
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Genetic testing for MODY appears cost-effective for select populations

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Personalized genetic medicine could be a cost-effective method for treating patients diagnosed with maturity-onset diabetes of the young, also known as MODY, according to researchers.

“Heterozygous mutations in three genes, HNF1A, HNF4A, and GCK, together account for >90% of all MODY with a known genetic cause. Diagnosing these subtypes of MODY has important implications for treatment,” Rochelle N. Naylor, MD, of the department of pediatrics; section of adult and pediatric endocrinology, diabetes and metabolism at the University of Chicago, and colleagues wrote. “Our results make a compelling argument for routine coverage of genetic testing in patients with high clinical suspicion of MODY.”

However, screening for MODY is not a common practice, according to researchers.

Rochelle N. Naylor, MD 

Rochelle N. Naylor

“Thus, many cases of MODY are being missed. In the case of GCK-MODY, HNF1A-MODY, and HNF4A-MODY, misclassification is likely to lead to overtreatment or unnecessary treatment with increased health care expenditures for individuals,” they wrote.

To assess the cost-effectiveness of a genetic testing policy for those subtypes, Naylor and colleagues conducted a hypothetical cohort analysis of patients with type 2 diabetes (aged 25 to 40 years) with a 2% prevalence of MODY, using a model from the United Kingdom Prospective Diabetes Study.

Comparisons of cost and quality-adjusted life years (QALYs) were made based on lifetime risk for complications and treatments, demonstrated as the incremental cost-effectiveness ratio (ICER), researchers wrote. The researchers set the cost of genetic testing to $2,580 per patient.

According to data, the genetic testing policy indicated a mean increase of 0.012 QALYs and an ICER of $205,000. Further hypothetical analyses revealed that if the prevalence of MODY was 6%, the ICER would be approximately $50,000 and cost-effective; if the prevalence of MODY was more than 30%, the genetic testing was cost-saving. Additional reductions in genetic testing costs resulted in decreased ICER, they wrote.

“A formal health care policy of routine medical coverage for genetic testing in defined groups of patients for these subtypes of MODY could serve as a model for developing cost-effective health care policies around the application of personalized genetic medicine,” researchers wrote.

Disclosure: The researchers report no relevant financial disclosures.