Barriers to genetic testing among persons at risk for alpha-1 antitrypsin deficiency.

The alpha coded testing (ACT) study offers free and confidential testing for alpha-1 antitrypsin deficiency (AATD) and includes surveys to provide data to study the psychosocial correlates of genetic testing. The purpose of the current study is to better understand reasons why some individuals complete genetic testing while others do not. Survey measures were compared between participants who requested and returned a genetic test for AATD (n = 703), and a random sample of individuals who requested a test kit, but did not return it within 3 months of their request (n = 83). Increasing decile of age (odds ratio [OR] = 0.74 [95% confidence interval = 0.60-0.82]) and fingerstick fear (OR = 0.74 [0.60-0.93]) were associated with a decreased likelihood of returning the test, while assurance of confidentiality was associated with an increased likelihood (OR = 1.26 [1.01-1.57]) of returning the genetic test. General anxiety as measured by the Beck Anxiety Inventory, family functioning as measured by the general functioning subscale of the Family Assessment Device, and stress induced by genetic testing as measured by the Impact of Events Scale did not significantly differ between responder groups (p = not significant). Results of this study help characterize factors driving genetic testing in AATD and may offer insight into population responses with other genetic tests.

Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency.

BACKGROUND: As genetic testing for health risk becomes increasingly available, it becomes important to study the prospective impact of testing on modifiable health behavior. PURPOSE: This study examines the impact of genetic testing for alpha-1 antitrypsin (AAT) deficiency, a condition that usually results in emphysema in individuals exposed to cigarette smoke. We evaluated whether AAT testing, performed in the home and with minimal contact (reading materials including advice on cessation), results in quit attempts and abstinence. METHODS: Identified smokers (N = 199) from a larger study of genetic testing were surveyed 3 months following receipt of their AAT genotype. The primary endpoint was the incidence of quit attempts. RESULTS: Smokers who tested severely AAT deficient were significantly more likely to report a 24-hr quit attempt (59%) than were those who tested normal (26%). Carriers had a 34% quit attempt rate. Severely AAT deficient smokers were more likely than both carriers and normals to seek information on treatment, use pharmacotherapy for smoking cessation, and report greater reductions in their smoking. There were no group differences in 3-month abstinence rates. CONCLUSIONS: Knowledge of severe AAT deficiency, but not carrier status, may motivate smokers toward cessation. The AAT testing experience may have consequences for outcomes of other genetic conditions with modifiable health behaviors.