Acceleration of the United States on-demand genetic testing industry

The US Food and Drug Administration (FDA) has, for the first time, granted permission to a company to provide limited health information directly to consumers, bypassing the need for doctors or genetic counselors.

The company in question is 23andMe, a prominent direct-to-consumer (DTC) genetic testing service based in Mountain View, California. On 6 April 2017, the FDA provided 23andMe with approval to screen for ten health-related genetic conditions.[1]

Recent years have seen the cost of genetic sequencing fall at an astonishing rate,[2] which has helped enable the advancement of the DTC genetic testing industry. According to Anne Wojcicki, 23andMe’s co-founder and chief executive, “customers want their genetic data.”[3]

However, genetic testing is not a panacea for understanding individual health risks. Genetic variants do not inform you that you have a disease, but that you have a certain percentage likelihood of someday getting it. It remains unclear how useful this information really is.

In its news release, the FDA announced: “Consumers can now have direct access to certain genetic risk information, but it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”[4]

Additionally, the decision puts the FDA at odds with top guidelines of the field. The American College of Medical Genetics and Genomics asserts that genetics professionals should always be the ones to interpret and deliver genetic results, alongside family and medical history for fuller context.[5]

The 23andMe journey

23andMe used to provide people with information about 254 conditions. However, in 2013, the FDA blocked the company from providing any health-related information after the company failed to validate its claims scientifically.[6] A lawsuit was filed against the company by a customer days later, and other articles emerged in which customers shared personal experiences of receiving inaccurate results.[7]

The outlook for 23andMe may have seemed bleak in the United States, but the company used the time to grow into new markets around the world.[8] And in 2015, the FDA partially eased its restrictions, allowing 23andMe to inform people of possible “carrier status” associated with a few dozen genetic variants.[9] 23andMe reportedly now has two million customers — up from 800,000 just two years ago. With the latest move, 23andMe is poised for a full US comeback.

As always, anyone can purchase a 23andMe kit — currently selling for $199 — spit into a tube, and mail it back to the company to then extract and sequence the DNA. The customer receives an email six to eight weeks later alerting them to login to their online account to see their report — largely limited to ancestry information since 2013. Shortly, the report will also include the data on genetic markers for 10 diseases.

These include rare diseases such as factor XI deficiency, Gaucher disease type 1, and coeliac disease, which patients will be informed about by default. Two conditions will be treated with greater caution: Alzheimer’s and Parkinson’s. If a customer wants to know whether they are at increased risk of developing one of these conditions, they must opt-in. Customers won’t be provided with genetic counseling to help them make the decision about how much they want to know or what to do with the information they get, but 23andMe provides links to genetic counselors that people can pursue at an additional cost if they desire.

Changes in the genetics industry

The FDA intends to streamline the process both for future 23andMe tests and for future companies by providing them with an exemption to premarket review after submitting a single premarket notification. This is intended to “allow other, similar tests to enter the market as quickly as possible and in the least burdensome way, after a one-time FDA review.”[10] Writing in The New York Times, Gina Kolata states, “The decision is expected to open the floodgates for more direct-to-consumer tests for disease risks, drawing a road map for other companies to do the same thing.”[11]

Any “diagnostic tests” defined as those “often used as the sole basis for major treatment decisions, such as a genetic test for BRCA” are excluded from this exemption. However, there is not a clear boundary between diagnostic and non-diagnostic tests. People may mistakenly interpret any positive result as meaning they will eventually get the condition, which could lead to unnecessary stress and over-testing.[12]

The incentives for DTC companies are to market their products as being as informative as possible, so it may not be in their best interest to advertise the inconclusiveness of their tests. It is worth remembering that the business model of 23andMe functions by compiling aggregate data from customers’ DNA to spur an internal drug discovery programme and partnerships with other pharmaceutical and research companies.[12]

Implications for consumers

The allowance from the FDA to reveal information about these 10 conditions was based upon data from peer-reviewed scientific articles showing links between them and a genetic variant. Consumers should still understand, however ,that this does not guarantee accuracy. False positives and negatives remain a risk. The FDA warns that results from these tests should not be considered diagnostic, and should not inform any kind of treatment plan. People are advised to seek out genetic counselors if they have questions. Anyone who is actually concerned about a medical condition should seek additional diagnostic testing with his or her healthcare provider.

Interested customers should also be aware of an additional concern: the potential impact on health insurance. The Genetic Information Nondiscrimination Act of 2008 prevents discrimination based upon genetic information from employer insurance plans. However, it does not prevent against life or disability insurance.[13] Moreover, there is a current attempt to roll back some of GINA’s protections in the form of Employee Wellness Programs.[14]

Some people may learn they have a genetic variant of concern and make behavioral changes to reduce their risk. Any such push towards healthier habits could have long-term benefits of many kinds. However, existing evidence does not provide much hope that people do actually alter their behaviour after learning of genetic risk factors.[15] Moreover, there is little known about preventing diseases like Alzheimer’s and Parkinson’s.

23andMe has now begun returning information about four of the ten diseases in the US. The others will be rolled out at a later date.[16] The on-demand genetic testing industry may now accelerate ahead, but there is no need for the rest of us to follow behind blindly.