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Experts at Newborn Screening Workshop recommend pilot studies on Alpha-1 screening; suggest lifetime benefits as “new paradigm”

MIAMI – A panel of national and international experts has recommended that multiple pilot studies be initiated to assess the benefits and practicality of newborn screening for Alpha-1 Antitrypsin Deficiency (Alpha-1).

The panel said that adding Alpha-1 to newborn screening would be “a new paradigm,” focusing on benefits resulting not only from immediate medical treatment but also on avoiding risk factors including parental and personal smoking and environmental exposures, both in the workplace and at home.

Given that the currently available information on the benefits of newborn testing for this condition is limited, the panel recommended that multiple pilot studies be initiated to assess the practicality and clinical impact of early diagnosis.

The recommendation came out of a workshop sponsored by the Alpha-1 Foundation entitled “The Promise and Challenge of GINA: Is it Time for Newborn Screening for Alpha-1?” in Arlington, VA, Sept. 18-19.

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