alpha-1 antitrypsin deficiency

Alpha-1 Antitrypsin Deficiency: what it is, and resources for you

Meet Kim Brown Foil. Kim is a genetic counselor and an expert in Alpha-1 Antitrypsin Deficiency. Given the genetic health risk reports now FDA-approved and available at 23andMe, I think Kim is going to be a busy person! I asked Kim to share information and resources with my readers and a way to reach out to her. Kim made seven points about Alpha-1 Antitrypsin Deficiency and the 23andMe test. Whether your report was "positive" or "negative" it's important to stick around and read them! I am so grateful to Kim for sharing her knowledge. Thanks, Kim!

Kim Brown Foil, MS, CGC

Kim Brown Foil, MS, CGC

The direct to consumer genetic testing company, 23andMe, received FDA approval to offer 10 new health reports beginning in April 2017. Alpha-1 antitrypsin deficiency (Alpha-1) is among these new conditions. You may have questions about getting tested for Alpha-1 or what your results mean.

There are a few important things to know about Alpha-1 and your 23andMe test:

1.     Alpha-1 is an inherited risk for chronic obstructive pulmonary disease (COPD) and in some cases liver disease. It is not a certainty to develop them.

2.     A laboratory test, like 23andMe, may detect the genetic condition of Alpha-1, but cannot tell whether an individual has, or will develop, COPD or liver disease. Medical follow-up with a healthcare professional is recommended for anyone found to have Alpha-1 by 23andMe.

3.     23andMe “spot checks” your Alpha-1 genes for the most common variants, called “S” and “Z”. You may have 0, 1 or 2 variants identified. The S and Z variants cause most cases of Alpha-1. There are also rare Alpha-1 variants that are not reported by 23andMe. This means that there is a small residual risk to have an Alpha-1 variant that is not looked for by this test. In some cases, additional testing may be appropriate. 

4.     Having 0 variants is the normal result. If you have 0 variants identified, it is unlikely that you are an Alpha-1 carrier or have Alpha-1.

5.     If 1 variant is detected (one copy of S or Z) this means that you are most likely a carrier for Alpha-1. Although being an Alpha-1 carrier does not cause health problems in most people, it is important for carriers to avoid smoking and learn about Alpha-1 inheritance. On average 4-5% of people are carriers of the S or Z variants. Carriers may benefit from Alpha-1 genetic counseling.

6.     If 2 variants are detected, you may have Alpha-1 antitrypsin deficiency. Individuals with two copies of the Z variant (ZZ), or one S and one Z variant (SZ), should seek medical follow-up for appropriate evaluation and treatment. These variant combinations significantly raise risks for lung and liver disease. Confirmatory diagnostic testing is recommended. Two copies of the S variant (SS) does not cause health problems for most people. It is important for people with two Alpha-1 variants to avoid smoking and learn about Alpha-1 inheritance and family testing recommendations. People with two variants may benefit from Alpha-1 genetic counseling.

7.     COPD and liver disease are common disorders even in people without Alpha-1. A normal 23andMe result for Alpha-1 means you do not have increased risks due to the variants tested. There is still a background risk for COPD or liver disease to occur due to other reasons.

Genetic counseling may help you understand or adapt to the results of your 23andMe test for Alpha-1. The Alpha-1 Foundation provides free and confidential genetic counseling by telephone for individuals who have been tested, or are considering testing, for Alpha-1. See for more information. If you have questions about your result or next steps please call Kimberly Brown, Certified Genetic Counselor, at 1-800-785-3177.

Additional information about Alpha-1, including free family testing, Clinical Resource Centers (specialists), support groups, research and educational events may be found at and   

More about my guest blogger: Kimberly Brown Foil is a Certified Genetic Counselor who earned her Master’s degree in Medical Genetics from the University of Cincinnati in 2008 and ABGC certification in 2009. Kimberly practiced in prenatal and reproductive genetics for several years before joining the Pulmonary Division at the Medical University of South Carolina (MUSC). She serves a genetic counselor for the pediatric and adult care teams in the MUSC Cystic Fibrosis Center and is the Program Director for the Alpha-1 Foundation Genetic Counseling Program. Kimberly is involved in research in rare lung diseases and provides genetics education to MUSC students and other professional and community groups.