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.