Project Overview

The 23andMe PGS Genetic Health Risk Report is a direct-to-customer testing kit for genes linked to various forms of cancer.

Organisation

23andMe

Team

David H – Principal Scientist
Joanna M – Senior Director of Research
Joyce T – VP of Research

Project Brief

The Genetic Health Risk Report marks the first and only direct-to-customer product of its kind and is available to users without prescription. The report tests for three mutations on the BRCA1 and BRCA2 genes, which are linked to higher risk of ovarian, breast and prostate cancer. It marks a major milestone in direct and affordable access to preventative health-care products.

Project Need

The Genetic Health Risk Report uses qualities genotyping to detect select clinically relevant variants in genomic DNA isolated from human saliva collected from individuals above 18 years. The 23andMe PGS Genetica Health Risk Report is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene.

Most prevalent in those of Ashkenazi Jewish descent, with 1 in 40 individuals having one of these three variants. The product will be especially valuable for those who may not be aware of their Ashkenazi Jewish descent or aren't familiar with their family history of cancer.

As part of the review process and safety evaluation of the product by the FDA de noco classification pathway, 23andMe demonstrated over 99% accuracy and precision.

User Experience

The product is part of a movement to make genetic screening more accessible to wider populations. However, it is by no means a replacement for professional screening. As the test does not yet describe a person's overall risk of developing any type of cancer and the absence of a variant tested does not rule out the presence of other variants that may be cancer-related, the product will be most useful in raising a red-flag and leading customers to have an additional professional screen.