Impact of Genomics on Insurers - Part 3
Direct-to-Consumer Genetic Testing
In previous articles we introduced some basic principles and explained the different methods of genetic testing. In this article we will focus on direct-to-consumer testing (DTC) – a quick and affordable approach to genetic testing which has led to much controversy in the last couple of years.
Definition and Functionality
Direct-to-consumer (DTC) testing is understood as genetic testing that can be conducted by consumers themselves. To get access to their genetic information they don’t need a physician, but interact with a genetic testing provider directly.
A DTC test typically consists of a testing kit that the consumer can order online for delivery by mail. The testing kit usually contains instructions and material for taking a tissue sample (hair, skin, saliva, or blood). A common procedure is the “buccal smear,” where a sample of cells is collected from inside the cheek with a cotton swab. The DNA sample is then sent back to the testing laboratory for analysis. Results are communicated to the consumer either by mail or phone, or they can view them online on a password-protected web portal. Depending on the test purchased, it may come with a free explanation supplied by a counselor or health center.
Providers and Costs
The following table lists some of the providers offering DTC genetic testing on the market. Provider services range from a simple analysis of one’s ancestry to the analysis of health- or fitness-related hereditary conditions. There are numerous providers offering simply an analysis of ancestry. These providers are not included.
Benefits of DTC Genetic Testing
The two most prevalent benefits of DTC genetic testing are accessibility and affordability. Since the testing kit and tissue sample can be mailed to and from nearly any place in the world, there are no geographical restrictions that might otherwise restrict access to genetic testing for some consumers. Further, simple DTC tests can be purchased for less than USD 100 (EUR 80).
Providers of DTC tests argue that through easy accessible genetic testing, everybody has the possibility to learn more about themselves and their ancestry, and to become more aware of their health. It has also been observed that the emergence of DTC has raised public awareness of the topic of genetic testing in general.
The legal situation regarding DTC testing differs from country to country. In EU member states, EU directives provide a framework for country-specific laws. For example, genetic tests are classified as medical diagnostics and regulated under the In Vitro Diagnostic Directive, which sets high standards regarding quality and safety. Furthermore, the Data Protection Directive considers personal health and medical data as ‘sensitive’ personal data requiring particularly strong safeguards.
The following table gives an overview in selected countries:
Risks and Limitations
Despite the benefits of DTC genetic testing, voices are being raised regarding its risks and limitations.
Firstly, a DTC genetic test may not be as valid as genetic tests approved for clinical use. For instance, the Clinical Laboratory Improvement Amendments (CLIA) in the United States ensure that laboratories comply with a certain quality standard. However, the clinical validity of a DTC test – even in a CLIA-certified laboratory – is not necessarily fulfilled. It is therefore difficult to determine the validity and utility of tests sold directly to the end consumer.
Furthermore, many DTC genetic tests do not involve an expert to explain the test results. Even physicians are not necessarily qualified to adequately interpret test results. It is therefore possible that the consumer might misinterpret the results and make wrong decisions about potential prevention or treatment. In this context, consumers are more vulnerable to being misled by the results of their DTC tests.
Lastly, the consumer might involuntarily authorize the DTC testing provider to use their information for research or other purposes (such as marketing or disclosure to pharmaceutical companies). An unresolved issue is third-party disclosure: many providers do not explicitly address the topic of ownership in their terms and conditions, which leaves unanswered the question of who the collected data belongs to. Even if the end consumer lives in a country where the law is sufficiently clear to resolve this question, they may have used testing services from a provider in a country in which other laws apply.
These topics have yet to be thoroughly resolved. For the moment, it can only be said that consumers themselves are responsible for understanding the policies of a DTC genetic test.
Impact on Insurers
Direct-to-consumer genetic testing may have an impact on insurers of the health, life and pension lines because they can result in an information asymmetry between the insurer and a customer applying for insurance cover. The insurer may not be legally allowed to ask for disclosure of information an applicant has obtained via prior DTC genetic testing. Or even the insurer is legally allowed to ask for it, the applicant does not have to fear any consequences if not disclosing the information because it was obtained bypassing the "official” healthcare system – potentially even anonymously.
Direct-to-consumer genetic testing is a rather new way of quick, accessible, and affordable genetic testing. There are many providers around the world promising to deliver results about one’s health, fitness, ancestry, etc., within only a few days or weeks. In this article we looked at providers that offer genetic tests concerning health issues, and identified both the benefits and risks of DTC testing.