Abstract Rationale Adults with Alpha-1 antitrypsin deficiency (AATD) are susceptible to premature development of pulmonary and liver disease.Early diagnosis of AATD can prevent disease progression by modifying environmental factors and introducing early life-style interventions. Despite this, AATD remains under-recognised globally. A major impediment to early AATD diagnosis is the reluctance of individuals to pursue testing due to fear of possible genetic discrimination by third parties (insurance and financial institutions). Genetic discrimination has been defined as the differential treatment of individuals based solely on their genetic variation from the “normal” human genome. Globally, legal protections exist to ensure people can partake in testing without the fear of being penalised. In 2005, the Irish government introduced protective legislation which prohibits the use of genetic tests in assessing applications for life & health-related insurance and mortgages. However, patient groups have highlighted that this legislation does not provide sufficient protection. Methods This prospective observational Irish national registry study explores genetic discrimination in patients attending our national centre of expertise in AATD. We are currently surveying 400 people with severe or moderate AATD and quantitative data analysis is ongoing. Results This study is ongoing and to date, we have surveyed 100 of our national registry participants. 90% of participants were not aware of any protective legislation in place for genetic conditions or that they do not have to disclose their diagnosis of Alpha-1. 25% report a family member has not come forward for screening due to a fear of genetic discrimination. We evaluated all reported cases to date and found that experience of genetic discrimination is extremely common with 1 in every 3 participants (37 %) having a confirmed episode of genetic discrimination. Conclusions With increasing awareness of AATD, and exponential growth in direct to consumer genetic testing, we are detecting more and more young asymptomatic patients who with lifestyle intervention are unlikely to develop clinically significant disease. We have shown that lung disease development in MZ and SZ individuals usually requires an additional risk factor such as cigarette smoke, before symptoms occur. However, there is limited awareness of this amongst insurance and financial institutions determining future risk. We suspect that younger adults are disproportionally affected and may be less likely to undergo testing for AATD. This decision could greatly affect health outcomes, particularly in smokers. This is an important public health and ethical issue which needs to be addressed urgently. This abstract is funded by: US Alpha-1 Foundation Pilot grant
Roche et al. (Fri,) studied this question.