23andMe Receives FDA Approval for Genetic Colorectal Cancer Risk Test Covering Two MUTYH Variants

On January 23, 2019, VCBeat (WeChat Official Account: vcbeat) learned from The Paper that DNA testing company 23andMe announced it had received FDA approval to offer consumers genetic testing for colorectal cancer.

23andMe stated that the test covers two associated mutations, one linked to multiple polyps and the other to a rare condition that increases the risk of colorectal cancer. The FDA has not yet issued an immediate response.

Notably, this marks the second FDA authorization granted to 23andMe for cancer risk-related testing. In March 2018, the California-based biotechnology company received FDA clearance to provide customers with a BRCA1/BRCA2 Selected Variants report under its Genetic Health Risk (GHR) service. This represented the first direct-to-consumer (DTC) test for three specific BRCA1/BRCA2 mutations associated with breast cancer risk.

Although more than 1,000 BRCA mutations have been identified, 23andMe’s tests focus on these three variants, which are most common among individuals of Ashkenazi Jewish descent.

23andMe revealed that hereditary colorectal cancer accounts for only a small minority of all colorectal cancer cases, approximately 5%. However, this newly certified test does not include mutations associated with Lynch syndrome, which is considered the most common form of hereditary colorectal cancer.

Initially, 23andMe’s reports included risk assessments for more than 250 diseases, until the FDA prohibited it from providing genetic risk evaluations to users in 2013. Subsequently, 23andMe was forced to suspend its health-related genetic testing services. As a result, the company’s direct-to-consumer genetic testing offerings were limited to ancestry analysis, and its testing fee dropped to a rock-bottom price of $99.

Although once restricted, 23andMe has gradually gained FDA recognition as a large volume of experimental data has been generated, with several genetic risk-related testing panels receiving approval in recent years.

Let’s go back to April 2017, when the FDA granted its first approval for 23andMe to provide users with genetic risk reports for diseases. Anne Wojcicki, founder of 23andMe, announced the good news on Twitter that evening.

In addition to its own testing, 23andMe also leveraged data from peer-reviewed scientific literature to support the association between specific genetic mutations and the aforementioned ten diseases. The FDA also reviewed studies demonstrating that 23andMe’s Genetic Health Risk (GHR) tests can accurately and consistently identify variants associated with the following ten diseases from saliva samples:

Parkinson's Disease

Late-Onset Alzheimer's Disease

Celiac Disease

α-1 Antitrypsin Deficiency

Early-Onset Primary Dystonia

Factor XI Deficiency

Gaucher Disease Type 1

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency)

Hereditary Hemochromatosis

Hereditary Thrombophilia

With its initial market access granted, 23andMe and its proponents hailed this as a “voice of the people,” signaling the arrival of a springtime for the consumer genomics market. However, critics argued that the FDA’s move appeared somewhat hasty. Nevertheless, such criticism did not slow the FDA’s progress.

In March 2018, the FDA authorized 23andMe’s Personal Genome Service Genetic Health Risk (GHR) report for selected BRCA1/BRCA2 variants. Seven months later, the FDA announced its approval for 23andMe’s Personal Genome Service pharmacogenetics report test to enter the market. This test is designed to detect whether any of 33 genetic variants are present in a consumer’s genome; these variants may affect the body’s ability to metabolize certain medications.

Although the number of tests currently approved by the FDA is but a drop in the bucket compared to the 254 tests previously offered, it must be acknowledged that 23andMe is gradually emerging from its predicament. The FDA also appears inclined to give 23andMe the green light, allowing it to secure approval for a broader range of testing panels.

Beyond consumer-grade testing, the FDA has also taken bold steps in recent years in approving NGS-based oncology companion diagnostics, rare disease tests, and innovative therapies.

In November 2017, the FDA approved two novel sequencing-based devices: MSK-IMPACT™ and FoundationOne CDx (F1CDx). These two products cover 468 and 324 genes, respectively, enabling rapid and sensitive detection of gene mutations and genetic variations across multiple tumor genes in patients simultaneously, thereby allowing for the detection of multiple cancer biomarkers through a single test.

In December of the same year, the regulatory agency released two new draft guidelines on personalized diagnosis and treatment. These drafts outline regulatory requirements for targeted drug development based on molecular subtypes and for in vitro diagnostic devices used in clinical trials. They also address patient selection for clinical trials, generalization of results, assessment and labeling of benefits and risks, and refinement of the target population likely to benefit, thereby further clarifying and standardizing the clinical application of molecular diagnostics.

Furthermore, products such as gene therapies and small nucleic acid drugs have successively achieved breakthroughs in regulatory approvals over the past two years. In terms of new drug approvals, the FDA approved 59 new drugs in 2018, breaking a record that had stood for more than two decades. Behind these innovative therapies and products, in addition to continuous technological breakthroughs, lie the critical contributions of regulatory agencies through policy formulation and reform. It is precisely this virtuous cycle between technology and policy that has created the favorable environment for the development of the entire biotechnology industry today.