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Study: Preconception testing for SMA risk not cost-effective

Updated: 2010-02-05 19:16:55 CST Category: General Health

by Alex Schoenfeld

A recent study has concluded that it is not cost-effective to screen couples to determine whether they are at a high risk of having children with spinal muscular atrophy (SMA), the most common genetic cause of infant mortality and the second most common inherited autosomal recessive disorder.

After making assumptions about disease prevalence and sensitivity rates from carrier screening, study author Sarah Little of the Massachusetts General Hospital and her colleagues found that 11,000 people would have to be screened to prevent one case of SMA, at a cost of $4.7 million per averted case.

"Our findings show that screening everyone for SMA is not cost effective," said Little. "Our results, however, were most sensitive to changes in the baseline prevalence of disease, suggesting that prenatal SMA screening may be cost effective in high risk populations, such as those with a family history of disease."

In November 2008, the American College of Medical Genetics recommended that screenings for SMA should be made available to the general population, although in May 2009, the American College of Obstetricians and Gynecologists advised against preconception testing for all families.

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