Pilot detection study of alpha1 antitrypsin deficiency in a targeted population

Lora E Fleming, Sarah Oquendo, Judy A. Bean, Robert Tamer, Symma Finn, Adam Wanner

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Screenings for the genetic disorder alpha1 antitrypsin deficiency (AAT Deficiency) have been one of two models: large screenings of general populations and small targeted detection programs in high-risk groups. The most appropriate 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 detection programs using a self-administered fingerstick blood test. Individuals 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 pulmonary physician's office compared with testing offered through mail. Participation (i.e., frequency of subject participation in the detection program) of two different AAT Deficiency detection programs. Non-participation was due to fear of self-administered testing and research studies; women were more likely to participate than men. Eligible subjects were significantly more likely to participate when offered testing by their pulmonary physician in-office (83%) than mail-only (42%) (P < 0.02). Although self-administered genetic testing is available, highest participation in AAT Deficiency detection program was found when offered directly by the physician. This finding may have implications for screening and detection of other genetic diseases. Future studies need to evaluate the yield (i.e., frequency of positive tests) of these detection methodologies in highly targeted populations.

Original languageEnglish (US)
Pages (from-to)69-74
Number of pages6
JournalAmerican journal of medical genetics
Issue number1
StatePublished - Sep 15 2001


  • Alpha antitrypsin deficiency (AAT deficiency)
  • Genetic testing
  • Pulmonary disease
  • Self-administered testing

ASJC Scopus subject areas

  • Genetics(clinical)


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