23andMe: Expansion in BRCA1/BRCA2 Genetic Tests

Last Updated on January 6, 2024 by Joseph Gut – thasso

03 January 2024 – 23andMe is a  personal genomics company out of  South San Francisco, It is best known for providing a direct-to-consumer (DTC) genetic testing service in which customers provide a saliva sample that is laboratory analysed, using single nucleotide polymorphism genotyping to generate reports relating to the customer’s ancestry and genetic predispositions to health-related topics. The company’s name is derived from the 23 pairs of chromosomes in a diploid human cell.

At its beginning, the company had a previously fraught relationship with the American Food and Drug Administration (FDA) due to its genetic health tests; however, as of October 2015, DNA tests ordered in the US include a revised health component per FDA approval. 23andMe has been selling a product with both ancestry and health-related components in Canada since October 2014, and in the UK since December 2014.

Also in 2014, 23andMe submitted an application to the FDA to market a carrier test for Bloom syndrome, which included data showing that 23andme’s results were consistent and reliable and that the saliva collection kit and instructions were easy enough for people to use without making mistakes that might affect their results The FDA cleared the test in February 2015, in the clearance notice, the FDA said that it would not require similar applications for other carrier tests from 23andMe. Thasso had at the time a post referring to this test on Blooms syndrome. 

Further along, in 2017, the FDA approved the applications for ten genetic tests (i.e., not diagnostic tests) by 23andMe with information about whether the individuals have gene mutations or alleles that put them at risk for getting or having certain diseases, such as late-onset Alzheimer’s disease, Parkinson’s disease, celiac disease, hereditary thrombophilia, alpha-1 antitrypsin deficiency, glucose-6-phosphate dehydrogenase deficiency, early-onset of dystonia, factor XI deficiency, and Gaucher’s disease. This approval motivated thasso to reflect on the giant leap in direct-to-consumer theragenomics (DTCT) the approach by 23andMe may constitute for affected individuals.

In March 2018, the FDA approved another important application from 23andMe for a DTC test for three specific BRCA mutations that are the most common BRCA mutations in people of Ashkenazi descent. They are not, however,  the most common BRCA mutations in the general population, and the test is only for three of the approximately 1,000 known mutations in the general population..These mutations increase the risk of breast and ovarian cancer in women, and the risk of breast and prostate cancer in men.

Significant expansion in 23andMe’s BRCA1/BRCA2 genetic tests

As of September 01 2023, the FDA was providing an at-a-glance summary of news from around the agency which included the clearing for marketing of the updated 23andMe Personal Genome Service (PGS) Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants). It is a direct-to-consumer (DTC) test that reports selected BRCA1/BRCA2 genetic variants from human saliva collected from individuals 18 years or older. The test was updated to add 41 BRCA1/BRCA2 variants to the previously (see above authorized test. To recall: The 23andMe Personal Genome Service (PGS) is a qualitative genotyping assessment system applied to genomic DNA isolated from human saliva collected using the Oragene Dx OGD-500.001 to simultaneously detect and interpret genetic variants in a broad multigene test. The assessment system is intended to enable users to access information about their genetics that could aid discussions with a healthcare professional.

The test analyzes DNA from a self-collected saliva sample and generates personalized reports that describe if the genetic variants detected in that sample are associated with an increased risk of developing breast and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. The variants included in this report do not represent the majority of the BRCA1/BRCA2 variants in people of most ethnicities. This means a negative result does not rule out the presence of variants that increase cancer risk. These reports provide genetic information to inform discussions with a healthcare professional. Consumers and health care providers should not use the test results to substitute for healthcare visits for recommended cancer screenings or appropriate follow-up, and results from this test should not be used to determine any treatments. This is the latest example of the FDA’s ongoing commitment to advance access to safe and effective DTC genetic testing intended to aid patients in having informed conversations with their healthcare providers.

See here some words on BRCA’s:

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