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What should I know about the 23andMe testing?

Kim Brown Foil, is a Certified Genetic Counsellor and Program Director for the Alpha-1 Foundation Genetic Counseling Program. She wrote a guest blog post about the 23andMe test and what your results mean that covers pretty much all you need to know about the 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.

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