An investigation by The BMJ shows that private health companies in the U.K. that market direct-to-consumer screening tests for a range of conditions often leave the consumers who purchase them without the necessary direction to interpret or judge results -- in turn putting pressure on already-overtaxed National Health Service (NHS) doctors to interpret results from tests they did not order and may not endorse.
Additionally, some test manufacturers market tests with misleading claims that may contradict accepted medical guidelines or overstate their tests' efficacy.
The tests are marketed with the overarching concept of enabling individuals to spot potential issues and illnesses early. For many people, having greater (and earlier) agency in decisions about their health can be a powerful incentive to purchase these tests.
However, the BMJ investigation found that the test manufacturers’ recommendations may mislead or confuse the people who purchase the tests -- for example, by contradicting official medical guidance in screening at more frequent intervals than is normally recommended or recommending unnecessary repeat screening for low-risk patients.
For results indicating that a patient may have a condition or predisposition to a condition, the test companies may offer medical consultation for an additional fee or may not offer medical consultation at all, advising patients with abnormal test results to see their general practitioner (GP) for guidance.
The implications and relative significance of abnormal test results are frequently not explained by manufacturers, either.
Bernie Croal, president of the Association for Clinical Biochemistry and Laboratory Medicine, points out that 5% of all test results lie outside the normal reference range: “So if I do 100 tests on you and there’s nothing wrong with you, five of your tests will be abnormal.” Those abnormal test results may or may not indicate significant health issues requiring medical consultation and follow-up, which is not necessarily evident to consumers.
This ambiguity about test results and their significance, along with the lack of included counseling options and blanket recommendations to see one’s doctor following abnormal test results, have resulted in further strain on providers in the already-overtaxed NHS when users get their test results back, the BMJ article asserts.
The Royal College of General Practitioners published a position statement on these private tests in 2019, warning that “the [organization] initiating the screening should not assume that GPs will deal with the results.” Despite this directive, GPs often find themselves having to interpret results for tests that they did not order and that they would not necessarily have chosen for their patients.
Furthermore, some companies make claims about the accuracy or definitive nature of their tests that may mislead or confuse users. This is significant for noninvasive testing for genetic disorders, the results of which can be unreliable for some disorders and may require a level of interpretation beyond what the average consumer can manage – which may be particularly worrisome when the manufacturer offers no counseling beyond the suggestion that users follow up with a practitioner.
Some companies who produce these tests contend that they are providing a needed service for patients, even filling gaps in care. Other companies caution that their tests are not intended to substitute for tests ordered by practitioners, but rather should serve as risk prediction and management tools for guidance and prevention.
However, regulation and oversight of these direct-to-consumer tests is not comprehensive and can be inconsistent, and laboratory accreditation is voluntary.
Medical practitioners and organizations spoken to by the investigators call for greater regulation with these tests, as well as clearer definition in boundaries of responsibility and accountability between private testing firms and the nationalized system.