Kim Brown
1. Alpha-1 is an inherited risk for chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. obstructive pulmonaryMedical term referring to the lungs. 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 carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. or have Alpha-1.
5. If 1 variant is detected (one copy of S or Z) this means that you are most likely a carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. for Alpha-1. Although being an Alpha-1 carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. does not cause health problems in most people, it is important for carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. to avoid smoking and learn about Alpha-1 inheritance. On average 4-5% of people are carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. of the S or Z variants. CarriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. 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 geneticcounseling .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
Alpha-1 Antitrypsin Deficiency: what it is, and resources for you – Watershed DNA.comcounseling may help you understand or adapt to the results of your 23andMe test for Alpha-1. The Alpha-1 Foundation provides free and confidential geneticcounseling by telephone for individuals who have been tested, or are considering testing, for Alpha-1. See https://alphaoneregistry.org/counseling 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.