23andMe example genetic reports

*The 23andMe PGS test uses qualitative genotyping to detect clinically relevant variants in the genomic DNA of adults from saliva collected using an FDA-cleared collection device (Oragene·DX model OGD-500.001) for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease. The relevance of each report varies based on ethnicity. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. These reports are not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication or how much of a medication you should take. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future or anything about the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. For Gaucher Disease Type 1, we provide a single report that includes information on both carrier status and genetic health risk. The Late-onset Alzheimer’s Disease genetic health risk report is indicated for reporting of the ε4 variant in the APOE gene and describes if a person has a variant associated with an increased risk of developing late-onset Alzheimer’s disease. The ε4 variant included in this report is found and has been studied in many ethnicities. Detailed risk estimates have been studied the most in people of European descent. The Alpha-1 Antitrypsin (AAT) Deficiency genetic health risk report (i) is indicated for reporting of the PI*Z and PI*S variants in the SERPINA1 gene, (ii) describes if a person has variants associated with AAT deficiency and a higher risk for lung and liver disease, and (iii) is most relevant for people of European descent. The Parkinson’s Disease genetic health risk report (i) is indicated for reporting of the G2019S variant in the LRRK2 gene, and the N370S variant in the GBA gene, (ii) describes if a person has variants associated with an increased risk of developing Parkinson’s disease, and (iii) is most relevant for people of European, Ashkenazi Jewish, and North African Berber descent. The Hereditary Thrombophilia genetic health risk report (i) is indicated for reporting of the Factor V Leiden variant in the F5 gene, and the Prothrombin G20210A variant in the F2 gene, (ii) describes if a person has variants associated with a higher risk of developing harmful blood clots, and (iii) is most relevant for people of European descent. The Cystic Fibrosis carrier status report is indicated for the detection of 28 variants in the CFTR gene and is most relevant for people of Ashkenazi Jewish, European, and Hispanic/Latino descent. The Sickle Cell Anemia carrier status report is indicated for the detection of the HbS variant in the HBB gene and is most relevant for people of African descent. The carrier status reports related to hereditary hearing loss consist of two tests – one indicated for the detection of two variants in the GJB2 gene which is most relevant for people of Ashkenazi Jewish and European descent, and one indicated for the detection of six variants in the SLC26A4 gene.

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