Increasing Testing in Alpha1-antitrypsin Deficiency


AATD most commonly presents indistinguishable from COPD or asthma with incompletely reversible airflow obstruction. Only a fraction of those with AATD have been identified at this time and although up to 3% of patients diagnosed with COPD have AATD, most of these remain undiagnosed.18


Clinical experience clearly shows that individuals with severe AATD who have never smoked can develop emphysema; as a result the mere fact that an individual is a non-smoker should not exclude them from testing. The diagnosis of AAT deficiency is generally made after the identification of COPD or liver disease or after the deficiency has been diagnosed in a family member.13


There is a belief among some practitioners that because no effective therapy exists, there is no reason to diagnose AATD. This is among numerous misconceptions that are prevalent in this field and that contribute to the lack of testing. A review of selected important misconceptions are enumerated in Table 1 and can be found discussed in detail in the article by Stoller and Aboussouan.19


Contrary to the frequent misconception that AATD testing is complex and expensive, testing is generally inexpensive. In addition, several manufacturers of augmentation therapy (Baxter Inc., CSL Behring and Talecris Biotherapeutics) and the Alpha-1 Foundation all support testing and make free test kits available. These kits are sent to high-quality testing laboratories for analysis and characterization.20


Although AAT plasma/serum concentration assays are offered commonly by hospital laboratories, these assays are insufficient to identify carriers of the Z allele. More advanced testing for abnormal AAT variants is performed in only 12 laboratories throughout the US.21


The


reason for this limited number of laboratories offering specific testing for abnormal AAT variants is based on the fact that the gold standard for identification of these alleles is isoelectric focusing of plasma on thin-layer gels (phenotyping or Pi typing), which is technically challenging and requires highly skilled technicians.22


II: Barriers to Undertaking the Testing


There are many logistical reasons a patient may not wish to be tested for AATD such as fear of needles, financial concerns, privacy concerns, time constraints, fear of discrimination based on result, lack of interest due to advanced age, not desiring to know if he or she has AATD, and preference to be tested by own physician. Moreover, there are other factors that affect patients’ perception of testing, including psychological issues.


According to Dickson et al., distress, anxiety, and depression are all factors associated with genetic testing as reported in the alpha coded testing (ACT) study.23


feelings about the risks and benefits associated with genetic testing. In addition, the ACT study also showed that age, fingerstick fear, and concern for confidentiality influenced the decision to return a confidential test.


US RESPIRATORY DISEASE


The inclusive testing guidelines of ATS/ERS result from a desire not to exclude a large portion of AATD patients in exchange for a higher yield. For instance, the classically taught radiographic pattern of AATD, which is supposed to have basilar predominance and spares the upper lobes, is uncommon, found in only 20% of lung-affected individuals with AATD.17


Table 2: Solutions for Improving Alpha1-antitrypsin Detection


Educational Strategies 1. Effective CME


2. Improving physician education in medical school and postgraduate training on AATD


3. Expanding AATD understating to primary care physicians and allergists and gastrointestinal/liver specialists.


4. Strategies to improve patient understanding of AATD 5. Improve education about and understanding of genetic counseling and the Genetic Information Non-discrimination Act for both physicians and patients


6. Improve guidelines and disseminate recommendations Improve Testing Process


1. Improve recollection and routine testing by creating chronic obstructive pulmonary disease care templates or physician order sets/reminders 2. Routine testing facilitated by RT/RNs (a) Pulmonary function lab testing (b) In-patient testing (c) ER testing


AATD = alpha1-antitrypsin deficiency; CME = continuing medical education; ER = emergency room; RT = respiratory therapists, RN = registered nurses.


According to a study completed at Cleveland Clinic Florida exploring the obstacles against screening for AATD at the hand of respiratory therapists, the top reasons for not screening where fear of finger prick (29%), patients’ desire to discuss the test with their physician first (29%), patients’ need to read handout literature first (14%), patient concern about records (14%), and, finally, patients wanted to independently study the disease first (14%).24


However, in this study 79% of patients


who tested negative for AATD strongly agreed that they felt better after knowing that AATD will not affect their offspring. Fifty-seven percent of patients who tested negative strongly felt it is important to screen for AATD and 29% felt it is somewhat important, while 7% had neutral feelings about screening.


Even physicians who are aware of the need for testing and agree that testing is beneficial do not test. One hypothesis is that they do not remember to perform routine testing for patients who have COPD or possible AATD. When reminders are introduced in pulmonary function test (PFT) reports identifying patients as possible candidates for AATD testing (based on forced expiratory volume in one second


[FEV1] criteria), the rates for testing doubled, though still remained low: from 6 to 13%.25


Another issue is testing fatigue: unfortunately the attitude towards AATD testing is that it is thought of as a form of testing and not necessarily as screening. As a result, many give up testing after they do not encounter an AATD patient. Considering the low incidence of this condition even in targeted testing (1–3% of COPD patients), one has to test 98–290 patients to be 95% sure to find a deficient patient.25


This study examined people’s thoughts and


This article emphasizes the importance of wording using specific concrete statements, which helps doctors remember and


III: Barriers to Changing Physician Behavior Michie et al. argue how efforts to persuade doctors to follow guidelines have overlooked the importance of clear and concise recommendations.26


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