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Related Experiment Videos

Genetic testing for alpha1-antitrypsin deficiency.

Charlie Strange1, Ryan Dickson, Cindy Carter

  • 1Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, Charleston, SC 29425, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 22, 2004
PubMed
Summary
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Home genetic testing for alpha1-antitrypsin deficiency (AATD) offers significant benefits, including diagnosis and peace of mind. Comprehensive support is crucial for participants undergoing confidential genetic disorder testing.

Area of Science:

  • Genetics
  • Medical Diagnostics
  • Public Health

Background:

  • Alpha1-antitrypsin deficiency (AATD) is an inherited disorder that can cause lung and liver disease.
  • Home genetic testing offers a convenient method for individuals to be screened for genetic conditions.

Purpose of the Study:

  • To investigate the risks, benefits, and psychological impact of home genetic testing for AATD.
  • To assess participant motivations and outcomes related to genetic testing for AATD.

Main Methods:

  • 996 adult individuals participated in the Alpha Coded Testing Study.
  • Participants requested and returned a home-administered, confidential, fingerstick blood test for AATD screening.

Main Results:

  • High ratings for benefits: diagnosis (82%), helping family (86%), and peace of mind (79%).

Related Experiment Videos

  • 78% of smokers would likely quit if diagnosed with AATD.
  • Over 60% would share results with family/physicians; <30% with insurers.

    • Conclusions:

    • Home genetic testing for AATD is perceived as beneficial by participants.
    • Confidential genetic testing necessitates robust participant support systems.
    • Sharing of genetic information varies based on recipient.