Aims: To elucidate psychosocial and ethical issues faced by adults at risk for alpha-1 antitrypsin deficiency (AATD) that have received little attention.
Methods: Eleven individuals with AATD were interviewed in detail for 2 hours each.
Results: Several specific aspects of AATD created critical, socially dynamic issues that shaped the patients' responses. The disease being relatively newly discovered, physicians do not know much about it and thus often do not consider or recommend testing for it. Hence, patients who may benefit from diagnosis and treatment are not always diagnosed. General practitioners, when they do diagnose patients, often refer them to specialists and thus remain inexperienced in treating the disorder. As a result, many individuals, too, remain unaware of this disease in their families and thus do not consider mentioning its possibility to doctors or family members. Thus, intrafamilial disclosures by patients become critical. Patients may be shocked and upset at diagnosis, as they might possibly already have transmitted the mutation to offspring, which further impedes disclosure to family members.
Conclusions: These issues highlight how patients' interactions with doctors and others concerning genetics are critical, and need to be further explored and addressed. Several aspects of physician education and practice (e.g., regarding disclosures to at-risk family members) need to be improved.