Pilot detection study of alpha(1) antitrypsin deficiency in a targeted population

Screenings for the genetic disorder alpha, antitrypsin deficiency (AAT Defi ciency) have been one of two models: large screenings of general population s and small targeted detection programs in high-risk groups. The most appro priate screening and detection methodologies in terms of target populations , subject participation and yield of positive tests, however, have not been well defined. The major objective of this pilot study was to evaluate the effectiveness in terms of participation of two different AAT Deficiency det ection programs using a self-administered fingerstick blood test. Individua ls ages 30-60 under the care of a pulmonary physician and with a diagnosis of emphysema, COPD, chronic bronchitis, or bronchiectasis were the targeted population. Participants were offered AAT Deficiency testing in the pulmon ary physician's office compared with testing offered through mail. Particip ation (i.e., frequency of subject participation in the detection program) o f two different AAT Deficiency detection programs. Non-participation. was d ue to fear of self-administered testing and research studies; women were mo re likely to participate than men. Eligible subjects were significantly mor e likely to participate when offered testing by their pulmonary physician i n-office (83%) than mail-only (42%) (P < 0.02). Although self-administered genetic testing is available, highest participation in AAT Deficiency detec tion program was found when offered directly by the physician. This finding may have implications for screening and detection of other genetic disease s. Future studies need to evaluate the yield (i.e., frequency of positive t ests) of these detection methodologies in highly targeted populations. (C) 2001 Wiley-Liss, Inc.