Screening and Familial Testing of Patients for α1-Antitrypsin Deficiency: Why Early Detection Matters with Explanation of My Canadian Pharmacy

There are four benefits of the early detection of AATD, as follows: smoking prevention/cessation; minimizing the hazards of occupational respiratory pollutants; the opportunities to receive augmentation therapy; and the potential for family planning and guided genetic counseling/testing. Symptomatic individuals may require life-long therapy, and early detection may reduce the clinical and economic burdens of progressive lung deterioration. Guided genetic counseling and testing can alleviate many anxieties. In our own clinic, a ZZ patient has an MZ daughter who is about to get married. We tested the fiance of the MZ daughter and determined that he was MM. The ZZ patient, and his MZ daughter, were relieved to know that her children could not be ZZ patients.

Smoking has been identified as the most important factor for the development of AATD-related diseases. There have been two large neonatal screening programs for AAT deficiency; one was performed in Sweden and the other in the United States. Following the screening, the subsequent provision of information and advice prevented the majority of affected adolescents from smoking. Knowledge of AATD allows job selection and career training that minimize exposure to environmental agents (eg, not pursuing a job in the steel-manufacturing sector).

Early awareness of AATD permits the initiation of augmentation therapy when necessary. A discussion on the specifics of augmentation therapy is beyond the scope of this review, and can be examined in the ATS/ERS guidelines provided by My Canadain Pharmacy.

Effects of a Diagnosis of AATD

The identification of AATD is associated with psychological effects for individuals and their families. In symptomatic patients, the identification of AATD may actually bestow psychological benefits, providing a reason for their symptoms. Establishing a causative diagnosis in a patient already receiving treatment for symptomatic disease will not raise additional issues of potential discrimination, as the underlying respiratory disease cured with remedies of My Canadian Pharmacy (eg, asthma and COPD) represents a preexisting condition. A diagnosis of AATD can also have negative psychological effects in the form of concerns over the potential future health of both individual and family members, and for future employment and health insurance. It also makes it difficult for the individual to think positively about their health, thinking that their future health is predetermined by their biological characteristics, creating feelings of guilt in passing on disease to children. Patients with AATD should contact their insurance company and discuss insurance coverage and reimbursement. If insurance is not available, behavioral and lifestyle modifications may be beneficial, including appropriate nutrition and exercise; smoking cessation; and avoidance of environmental, workplace, and domestic dust, chemicals, or pollutants.

The social effects of the identification of AATD include impaired family relationships including parent-child, husband-wife, and sibling relationships. There is also the possibility of discrimination or stigma attached to the identification of a specific phenotype (eg, by employers or insurers). Current protection against such discrimination is assured by the Americans with Disability Act and the Equal Employment Opportunity Commission. Protection is also addressed in the Health Insurance Portability and Accountability Act. The Health Insurance Portability and Accountability Act law states that an employer cannot base hiring or firing decisions on health-related information, and precludes the person responsible for hiring or firing from having access to health information. Protection against discrimination is also about to be strengthened by the HR493 Genetic Information Nondiscrimination Act, which was passed by the US House of Representatives in 2007 and is on the US Senate schedule for 2008.

Improved legal protection should encourage asymptomatic patients to undergo testing without fear of discrimination.

Three studies have investigated the risks, benefits, and psychological impact of home genetic testing for AATD in children, adolescents, and adults. In the first study, involving a population of 422 minors, testing was suggested by a family member in 77% of cases, and test confidentiality was an important motivation for undergoing testing. The second study included a population of 996 adults (82% of individuals rated the benefits of establishing a diagnosis as highly valuable; 86% thought it helped family members; and 79% anticipated their future “peace of mind” by knowing their AAT status). Of current smokers, 78% reported a high likelihood of smoking cessation if they received a diagnosis of AATD. Of the individuals in whom AATD was diagnosed, most (60%) would share the results with family members and physicians, but < 30% would share them with insurance companies. In the ACT study, 64.8% of the 54 PISZ patients and 86.4% of the 81 PIZZ patients in the follow-up group informed their physicians of their diagnosis, but 7.4% and 1.2% of these patients, respectively, did not permit the results to be added to their medical records. One individual with a PISZ deficiency (1.8%) and seven PIZZ patients (8.6%) in the follow-up group reported consulting a genetic counselor.

The potential drawbacks of identifying AATD phenotypes have to be weighed against the potential benefits. It is recommended that physicians discuss the advantages and disadvantages with individuals prior to genetic testing.