Direct-To-Consumer Testing: the business with lifestyle tests

Interview with Priv.-Doz. Dr. med. Matthias Orth, Head of Laboratory Medicine at the Marienhospital in Stuttgart

The many possibilities the Internet offers also don’t shy away from laboratory medicine. The demand for biochemical or genetic tests continues to rise. Next to standard laboratory tests, a market developed in which the patient is the immediate recipient of clinical results. New distribution channels eliminate the physician as the responsible party.


Photo: Dr. Matthias Orth

Priv.-Doz. Dr. med. Matthias Orth; ©privat spoke with adjunct professor Dr. Matthias Orth, MD, Head of Laboratory Medicine at the Marienhospital in Stuttgart, about the risks of direct-to-consumer testing.

Dr. Orth, what exactly is direct-to-consumer testing?

Dr. Matthias Orth: Generally, laboratory tests are done within the scope of a medical examination. This also applies to point-of-care testing or measurements the patient can perform at home like blood sugar testing, for example. The patient remains a patient, regardless of where the exam takes place.

This is different for exams that take place outside of medicine. This includes smartwatches with measuring function or laboratory tests offered on the Internet. In this case, the user is no longer a patient but a pure consumer. This is what so-called direct-to-consumer tests or DTC testing is all about. The tests, as well as the diagnosis, take place without the involvement of a physician.
Photo: Doctor takes blood from patient

The respective companies take advantage of loopholes: While the physician takes the blood sample he truly becomes the one that orders the test and bears the overall responsibility; © Müllek

In the past, the analytical emphasis of DTC testing was on clinical and chemical testing. What research areas do these tests cover nowadays?

Orth: Genetic testing has become a new business model within DTC testing. The US company 23andMe, founded by Anne Wojcicki, the wife of Google founder Sergey Brin, does this on a grand scale. It offers comprehensive genetic tests to subsequently predict the risk for a whole number of diseases. This is problematic in two ways, because, on the one hand, it’s not measurable how these statements are actually scientifically substantiated. On the other hand, data protection is a big bone of contention, of course, especially because of the company’s close connection with Google. Thanks to this type of testing, information that is interesting for insurance companies, employers and life insurance companies, for instance, can be obtained and in turn be used against the consumer. These companies are generally not subject to doctor/patient confidentiality and don’t have to adhere to data protection laws as required by medical science. What’s also characteristic of these types of companies is that they take advantage of loopholes. Data is often stored in the cloud which is located somewhere abroad. If data is subsequently being abused, customers have no legal recourse since it is even unclear in which country a suit would need to be filed.

The business with DTC testing has already made its way into Germany. The Humatrix AG Company from Darmstadt has a similar business model. This company also takes advantage of a loophole to obtain the blood of its customers by having the patient go to a doctor after purchasing the test at a pharmacy, who then takes the blood sample and conducts genetic counseling. The problem here is that at that moment, the physician truly becomes the one that orders the test and bears the overall responsibility. That’s a clever trick: the company refers to the fact that the testing is done in accordance with the German Genetic Diagnostics Act (Gendiagnostikgesetz), GenDG. In reality however, physicians are actually unaware of the type of process they initiated by taking a blood sample and it is highly unlikely that a patient decides to forego the test when he or she has paid several hundreds of Euros for it a long time before being educated. The education itself then becomes a mere farce.

Where do you see the risk of this type of diagnostics?

Orth: In medicine, laboratory tests need to attest a medical benefit before they can be used. However, this does not apply for testing outside of medicine! The test portfolio of 23andMe includes a fertility program. This testing can presumably not only determine the chances of future children having blonde hair but also whether they are at risk of developing colon or lung cancer in the future. Because of these inadmissible claims by 23andMe, the FDA initiated proceedings against the company and prohibited it from conducting these types of tests. The tests by 23andMe could also be ordered in Germany even though this is actually forbidden based on the German Genetic Diagnostics Act. Since these tests are used outside of the medical science realm, they are not subject to the necessary regulations such as quality controls and the required professional qualifications of the staff. Under the pretext of consumer protection and the guise of promoting free trade, very meaningful medical regulations are simply being circumvented! Referring to consumer protection is also misleading since the consumer is often not able to decide whether the product truly works and keeps its medical promises.
Photo: Laboratory staff evaluate DNA

Since DTC testings are used outside of the medical science realm, they are not subject to the necessary regulations such as quality controls and the required professional qualifications of the staff; ©

What role does the Genetic Diagnostics Act play here?

Orth:The Genetic Diagnostics Act was created for a reason. The goal of the law is to prevent the possible risks and genetic discrimination associated with examining human genetic traits. However, it is currently quite difficult to legally close loopholes like the ones Humatrix takes advantage of for example. One of the problems is the Internet, as shown by the many choices of anonymous paternity test kits that are available there despite the Genetic Diagnostics Act. Another problem is when statutory health insurance companies such as the BKK Brandenburg use this opportunity to spend a portion of its benefits for so-called “benefits not approved by the Federal Joint Committee (GBA)“. The BKK suggests to its members that these tests are sensible benefits and that they are offered in accordance with the Genetic Diagnostics Act. In reality, this is a pure marketing program.

What needs to be done to stop this diagnostic craze?

First of all, the regulatory agencies need to become more active. One possible solution would be to make DTC testing only available with a prescription as the Genetic Diagnostics Act actually already stipulates. Humatrix distributes it genetic testing kits via pharmacies, for example, where they can be purchased by anyone without a prescription from a physician. Although this prescription requirement would not completely stop the business from abroad via the Internet, it would at least be legally inadmissible.

Another option would be to educate patients or consumers that the quality of diagnostics can have different levels. Currently, a big topic is the electronic insurance card with archive function. It is conceivable to also store a patient’s diagnostic results there. However, it would then be important to be able to see the quality for each individual finding. This is the only way to assess whether these are quality-assured tests from a medical laboratory or whether this is just a lifestyle test of questionable quality. This is extremely important for the decisions made based on the laboratory tests.
Photo: Melanie Günther; Copyright: B. Frommann

© B. Frommann

The interview was conducted by Melanie Günther and translated by Elena O'Meara.