Earlier this month 23andMe added a new Carrier Status* report on a serious but rare condition that can lead to excessive insulin production.
Known as familial hyperinsulinism (FHI), this congenital disease is most commonly found in people with Ashkenazi Jewish, central Finnish and Saudi ancestry. FHI causes overproduction of insulin that in turn can lead to low blood sugar, low energy, irritability, seizures, and if left untreated, brain damage. But the condition can be treatable if caught early. FHI is usually diagnosed in infancy or early childhood.
This newly added Carrier Status* report doesn’t diagnose FHI. Instead, it reports on whether you are a carrier of one of three variants in the ABCC8 gene. The report is called “Familial Hyperinsulinism (ABCC8-Related), and it tests for three variants in the ABCC8 gene that can cause FHI. These three variants cover about 97 percent of ABCC8-related FHI variants in people of Ashkenazi Jewish descent, and about 41 percent of variants in people of Finnish descent.
What’s a Carrier Status* Report?
Carrier status tests are a type of genetic test used to find out if you carry a genetic change – or variant. For the types of conditions included in a carrier status test, having one genetic change – being a carrier – typically means you do not have that condition, but you could pass the variant on to your each of your children.
Carrier status tests are typically offered for autosomal recessive conditions [or disorders]. For these conditions, a child needs to inherit a variant from both parents in order to have the condition. If both parents are carriers, each child has a one in four, or 25 percent, chance of being affected with the condition.
(It’s important to note that this also means that each child has a 75 percent chance of not being affected.)
Autosomal recessive conditions for which carrier testing is commonly offered by healthcare providers include cystic fibrosis, Tay-Sachs disease, and sickle cell anemia, among many others.
Carriers have a slight risk of developing a form of FHI. But the report is most relevant for prospective parents, who could pass the variant on to their children.
About one in 52 people of Ashkenazi Jewish descent are carriers of ABCC8-related FHI. And as we noted earlier, unlike with our other Carrier Status* reports, being a carrier of one of the three variants in our report does carry a small risk (less than 1 percent) of developing a form of FHI.
The FHI report is the latest in a regular cadence of new FDA-authorized health-related reports 23andMe offers customers. This brings the total number of Carrier Status* reports to 43. 23andMe also includes Genetic Health Risk* reports, and next month, 23andMe will add a BRCA1/BRCA2 (Selected Variants)* report to its list of Genetic Health Risk* reports. The BRCA1/BRCA2 (Selected Variants)* report is the first-ever direct-to-consumer genetic health report on cancer risk.
As with other health-related reports, 23andMe has a tutorial customers can go through before viewing their Familial Hyperinsulinism (ABCC8-Related) report. In addition to the tutorial, the report itself offers details on the condition, the specific variants tested for and the scientific details supporting the report. There are also links to information about genetic counseling and support group resources.
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. 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. The test is 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, how much of a medication you should take, or determine any treatment. 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, the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. Warnings & Limitations: The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding other genetic health risk reports and carrier status reports, [visit https://www.23andme.com/test-info/]
