Veterans opt into a large genetic study

see Preferences for opt-in and opt-out enrollment and consent models in biobank research: a national survey of Veterans Administration patients

Research teams planning large, prospective cohort genetic studies may benefit from the experience of the Veterans Affairs (VA) health-care system, which reports in this issue that more veterans prefer to be explicitly asked to participate. The survey of 451 veterans found that half had no preference between opting in or opting out of the planned Genomic Medicine Program, an ambitious project aiming to enroll 1 million veterans in a database that will include genetic, clinical, and environmental-exposure data. Of those who did express a preference, 29% chose the opt-in model and 14% chose the opt-out model. The researchers report that preference for the opt-in model seemed to be related to a desire simply to be asked rather than to have more control over their blood and tissue samples. When the authors looked specifically at the answers from various ethnic groups, they found that the opt-out model could result in underrepresentation of certain demographic groups, including Hispanics and younger veterans. The VA began recruiting veterans in January 2011 using an opt-in model and plans to compare its recruitment results with those expected based on the survey data. —Karyn Hede, News Editor

Long-term infantile Pompe disease survivors face new health challenges

see The emerging phenotype of long-term survivors with infantile Pompe disease

The Hollywood movie Extraordinary Measures brought to a mass audience the search for lifesaving enzyme replacement therapy (ERT) to treat the autosomal recessive lysosomal storage disorder Pompe disease (glycogen storage disease type II). In practice, recombinant alglucosidase alfa (Myozyme), available commercially since 2006, has extended life for most infantile Pompe disease patients, who would otherwise die before age 2 from glycogen accumulation in tissues. But no study has evaluated secondary health implications of long-term treatment. Prater et al. examined medical records for 17 infantile Pompe disease patients, ages 5 to 12, all of whom are free of invasive ventilation. The findings showed that, although treatment is effective in maintaining left ventricular function, it does not prevent arrhythmia, which can arise unpredictably despite regular treatment. The results underscore the importance of long-term follow-up, as the constellation of symptoms encountered in patients undergoing enzyme replacement therapies is likely to differ from that in patients with late-onset disease. The Pompe Disease Registry ( is likely to contribute further to the findings of this and other studies. —Karyn Hede, News Editor