23andMe has received a lot of attention as well as significant criticism from the medical community for their ever-expanding direct to consumer (DTC) genetic test offerings. While I share many concerns about 23andMe, it is worth noting that of the hundreds of tests that are directly available to consumers these days, 23andMe is the only lab that has received marketing authorization by the FDA for DTC testing. The only one.
These days anyone can easily order testing online directly from a number of companies, for themselves or their children – from pharmacogenomic testing to whole genome sequencing. How is it possible that so many labs are offering testing when only 23andMe has been given the green light by the FDA to offer DTC health risks tests?
One answer is so called ‘Consumer-Initiated, Physician-Mediated’ testing. With this flavor of DTC testing, laboratories can offer testing directly to consumers and bypass the need for FDA approval. So long as a qualified healthcare provider is involved in ordering the test, the FDA will continue to exercise their enforcement discretion and not get involved.
“As a matter of policy, the FDA generally does not review some types of tests, called laboratory developed tests (LDTs), that are created and performed in a single laboratory, if they are offered to patients only when prescribed by a health care provider. These tests typically do not have the FDA’s independent assurance of the analytical validity, clinical validity, or clear communication of test results.” FDA Website Updated 12-20-2019
I gotta’ say that I am baffled that consumer-initiated, physician-mediated testing is expanding so rapidly without any regulatory checks or balances. It seems like every other day there is a press release about a new partnership that enables labs to offer complex genetic tests, direct to consumer, with a physician’s order.
The biggest DTC genetic testing lab in the world by the number of samples, Ancestry.com (more than 15 million samples tested according to their website), recently announced that they are entering the health testing space and will be providing customers with some results related to hereditary risk for cancer, cardiovascular disease and more. And with their partner, Quest Diagnostics, Ancestry.com plans to release full exome data to customers later this year. However, unlike their main competitor, 23andMe, they are not offering this testing DTC with blessing from the FDA. Instead they have partnered with PWNHealth, LLC, so that their tests will be “physician-ordered” and thus escape the regulatory authority of the FDA. With this model, a test is selected and paid for online by the consumer, and then the lab requests a physician at PWNHealth to authorize the test order.
Ancestry.com isn’t alone in the decision to market complex medical tests directly to the public; PWNHealth also counts Invitae, Flugent, Sema4, Lineagen, Pathway Genomics, OneOme, Color Genomics, Ambry Genetics, and others as their partners. Just this past year, mega labs Quest Diagnostics and LabCorp launched new patient-initiated, physician-mediated lab testing, both partnering with PWNHealth. While PWNHealth seems to be a major player in this area of physician-mediated testing, the physicians working for PWNHealth aren’t the only ones signing test orders for consumer-initiated tests.
I know this from my personal experience of initiating one of these genetic health risk tests for myself. It was remarkably easy to order an extensive genetic test for hereditary cancer susceptibility. Ordering the test did not require me to provide health or family history information that would allow a physician to determine if this test was medically appropriate for me. In fact, all that was required for the test order was my credit card number and mailing address so that the lab could ship me a test kit. I returned my DNA-containing spittle never having talked about it with my own doctor, or any other doctor for that matter. Several weeks later, I received my results with a physician’s name and address on the report listed as the “Ordering Physician,” which Google Maps shows me is a UPS Store in a strip mall in Colorado (1,400 miles from my home state of Washington). This doctor was not a name I recognized from ordering the test, and I had no communication with him prior to, or in the time since my testing. Interestingly, I was able to find him LinkedIn where under Experience he lists: “PHYSICIAN OF RECORD (POR) services provided for DIRECT-TO-CLIENT laboratory testing.”
Consistent with this, while recently tuned into a webinar hosted by a lab offering a new consumer-initiated genetic testing product, a representative of one of the companies that provides physician “oversight” stated that the physicians signing off on these genetic test orders do not have any expertise in genetics and at the company, “genetic counselors are considered the experts and the physicians approve or reject orders based on the genetic counselor recommendations.”
My sense is that the companies promoting and selling these consumer-initiated tests are getting a free pass for now because they provide genetic counseling along with the test results. Advocates of these consumer-initiated tests say that any pathway that allows people access to their own health information is a positive, and physicians that sign off these orders as well as the genetic counselors involved may feel that they are doing more good than harm by improving access to this information.
But the idea that a physician will, in exchange for payment, sign off on test orders for people who are not under their care is quite troubling to me. If these labs were billing CMS, such arrangements, which essentially pay physicians a fee in exchange for referral to the laboratory, may be seen as illegal kick-backs. In fact, the regulatory gaps that allow for consumer-initiated, physician-mediated genetic testing are the same ones that allowed one of the biggest Medicare fraud schemes of all time to take place.
What does the movement towards a growing number of these types of DTC testing options mean for the field of medical genetics?
Perhaps people will have greater access to genetic testing. But will the information received through these tests improve people’s health? Or will they lead to people receiving inaccurate, incomplete or misunderstood information? What are the downstream costs to our healthcare system to follow-up these results for tests that were never indicated in the first place?
What does it mean when the very same doctors are signing off on genetic tests that provide information such as results of pathogenic variants in genes for which we have proven interventions to improve health outcomes (e.g. BRCA and Lynch syndrome) are also signing orders for tests that make such evidence-less claims such as to design a DNA-based weight loss plan or to personalize your cannabis experience? Could this blending of evidence-based applications of genetics with snake oil damage trust in all of the work that we genetic counselors do?
We are at an important crossroads where regulation and policy are needed to ensure responsible implementation of genetics in medicine. With this quickly evolving field there is an urgent need to address regulatory shortcomings with regards to genetic testing to reduce fraud and to ensure that people have access to high quality genetic tests and information. If medical tests are to be available directly to consumers, we need mechanisms to ensure that such tests have a high analytical and clinical validity and results must be comprehensible by those receiving them. Given the FDA’s current enforcement discretion of LDTs, we have no regulatory body accountable to see that this is the case.
If the FDA continues to turn a blind eye to physician-mediated DTC lab testing, individual states may need to exercise their regulatory authority over the physicians who inappropriately order medical tests for people not under their care. In 2017, healthcare attorney and physician, Kimberly Lovett Rockwell, MD, JD suggested in a JAMA Viewpoint article that state medical boards should consider sanctions against practitioners who work for DTC testing companies and order testing for any consumer without a medical history or examination, regardless of testing utility. Imagine all of the Medicare fraud that could have been prevented had such actions been taken a couple of years ago!
Lastly, one of the most important actions that will improve access to quality genetic healthcare and reduce inappropriate genetic testing would be CMS recognizing genetic counselors as healthcare providers (#supportH.R.3235 – Access to Genetic Counselor Services Act of 2019). Such recognition would allow reimbursement for genetic counseling services that are not tied to selling genetic testing products. Lack of fair reimbursement for independent genetic counseling has contributed tremendously to the shift of genetic services out of the traditional healthcare setting and into the consumer marketplace. CMS recognition would ensure the public that genetic counselors are subject to the same fraud, waste, and abuse laws and regulations as other healthcare providers and thus less likely to be unwitting parties to supporting DTC test schemes.
It is sadly ironic that genetic counselors are faced with opposition to CMS recognition given the opinion by some that ordering and interpreting genetic tests is engaging in the “practice of medicine”, and should only be performed by licensed physicians. Yet at the same time, so many genetic tests are being ordered by licensed physicians outside of what is considered the standard and accepted “practice of medicine”.