Andelka M. Phillips provides a summary of her presentation at the SCL Technology Law Futures Forum. It is intended to provide a very brief introduction to the direct-to-consumer genetic testing (DTC) industry and the issues it raises for the law. (Please note that this is part of research that is ongoing).
Direct-to-consumer genetic testing (DTCGT), also known as personal genome testing (PGT), is a relatively new Internet-based industry, which has been established as a consequence of advances in genetic and genomic science and the drastic reduction in cost of genetic sequencing technology. The industry is novel in several ways, but probably the most significant feature is that it is bringing genetic sequencing out of the clinic and into people's homes. Companies are primarily treating their customers as consumers, not patients, and legally this is a very interesting paradigm shift.
DTC genetic testing has been defined in a variety of ways, but for present purposes a DTC genetic test should be understood as a test 'that an individual can order, receive, review and share with others without being required…, to engage a healthcare professional' (see http://www.genomicslawreport.com/index.php/2012/11/29/dna-dtc-the-return-of-direct-to-consumer-whole-genome-sequencing/).
As part of my research, I have compiled a list of companies operating in this area. Overall, 227 companies were identified that offer some form of genetic testing service online. In assembling this list, companies were categorised according to the type of services they offered. While the primary focus of my research is on those companies which offer health-related testing, this piece will share some of my findings regarding other categories as well. Of the 99 companies that offer some form of health-related testing, 55 are based in the USA.
Mode of delivery
Companies allow people to order a genetic test online for a variety of purposes. The hallmark of the industry is that it is an online industry bringing genetic testing into the homes of ordinary citizens. DTC can be accessible in three ways: directly to the consumer with no involvement of a health professional; advertised directly to consumer (but only available for order through a physician); or direct to the consumer with some involvement of a medical practitioner.
What does DTC testing involve?
A person normally orders a DTC test through a company's web site - paying the required fee upfront (although some companies will send out test kits free of charge). The customer will then be sent a test kit by the company which the customer uses to collect a DNA sample, normally in the form of saliva. The sample is then sent back to the company which analyses the sample and sends the results to the consumer either by e-mail or by giving them access through a web site.
What has become apparent through examining the industry as a whole is that DTCGT does not involve one particular service, but many. The categories that have been identified are as follows: health-related testing, which can be further divided into subcategories; ancestry testing; genetic relatedness, most commonly, paternity testing; testing for child talent and athletic ability; DNA-based dating services; and testing only through a physician. Testing for health-related purposes can be further classified as follows: predisposition and susceptibility testing; pre-symptomatic testing; pharmacogenetic testing; carrier testing; and nutrigenetic testing.
A distinction is often made between tests which have direct relevance for health and those which are carried out for the purposes of 'recreational genomics' (testing that is carried out essentially 'for fun', examples include: testing for hair thickness and bitter taste perception). However, the distinction between what is health-related and what is recreational is not clear-cut and much information which may seem irrelevant can in fact have some implications for a person's health.
Predisposition or susceptibility testing
The most common type of health-related testing currently offered is that of predisposition or susceptibility testing. This type of testing is 'intended to provide an indication of the absolute lifetime risk and/or relative risk of an individual developing a condition'. (see http://www.sashg.org/documents/HGC-UK-Policy-on-DTC-testing.pdf). 64 companies have been identified which do some type of predisposition testing. 38 of these offer some form of testing for a person's risk of coronary heart disease. Nine offer tests estimating your risk of stroke. Many give people a risk estimate for different types of cancer with 39 testing for breast cancer. 23 offer tests for lung cancer. 27 offer tests for prostate cancer. 59 test for diabetes risk. 9 test for Alzheimer's.
Pharmacogenetics or pharmacogenomics
An interesting subcategory of health-related testing is that of pharmacogenetics. 26 companies have been identified offering some form of pharmacogenetic testing. As very few companies are currently performing whole genome sequencing, the majority of tests available are pharmacogenetic, rather than pharmacogenomics. While, some other types of testing may appear arguably benign, pharmacogenetic testing probably poses a greater potential risk to consumers. For instance, a consumer who orders a pharmacogenetic test, such as one identifying their responsiveness to Warfarin, may be encouraged to self-manage their dosage, which could have severe negative health consequences.
One of the most common types of services offered by DTCGT companies at present is ancestry testing. Companies will normally have several options for this and many ancestry testing companies will perform other types of testing for genetic relatedness. Currently, 62 companies offer some form of ancestry testing service.
Genetic relatedness, specifically, paternity testing
Currently, there are at least 85 companies which offer paternity tests. Most of these offer their services internationally and it is common practice for a company to sell paternity testing products, with one marketed as 'peace of mind testing' and the other being described as a 'court approved' or 'legal option'. This type of testing does raise both legal and ethical concerns, specifically the nature and adequacy of consent, potential harm to individuals, especially children, and family relationships.
Child talent and athletic ability
This type of testing is carried out in order to identify predispositions towards particular talents or athletic ability. 27 companies have been identified which offer some form of talent or athletic ability testing. Tests for child talent often focus on identifying traits such as memory or IQ. In the context of athletic ability, the most common example is testing for variants of the ACTN3 gene, which have been found to have some association with a person's ability to excel in endurance sports or to be a gifted sprinter. Tests for child talent and for athletic ability are generally not well validated and even those that have been validated are often of little predictive value. The testing of children especially raises legal and ethical issues and it is hoped that it will be possible to explore these in subsequent research.
Another category, which needs more attention, is that of Non-Consensual Testing. Approximately 34 companies currently offer non-consensual testing services. These tests are often marketed as 'infidelity' tests. The web sites of such companies encourage consumers to submit DNA samples of other individuals without their consent. (Often these samples may also be of dubious quality). This particular category of testing arguably has real potential to be far more harmful than beneficial to consumers and it is advisable that regulators subject these services to greater scrutiny.
Why does this matter for law?
Firstly, it has made essentially experimental technologies available to the general public, taking them outside of the research domain.
Secondly, the DTCGT industry allows tests to be purchased online meaning that these services are accessible to many people regardless of where they live.
Thirdly, many DTCGT companies do not require the involvement of a doctor and this changes the normal paradigm for genetic testing, by treating the individual tested as a consumer rather than a patient or research participant.
Fourthly, DTCGT test results do not necessarily have clinical application.
Fifthly, as this is largely an Internet based service, companies are using web-based interfaces to interact with patients rather than communicating in person in a clinical context, which raises further issues.
Cause for concern
Concern has been raised regarding: possible use and misuse of data by companies; adequacy of consumer consent mechanisms; consumers' level of understanding of test results and specifically their understanding of risk information; possible harm to consumers from receiving risk information; potential problems with results – the possibility of both false positives and false negatives; and lack of clinical utility and clinical validity.
Possible Legal Solutions
In my research several options for reform are explored.
At present, it is submitted that the most practical approach for regulating DTC health related testing is that of relying upon existing regulation for medical devices, ie DTC test kits ought to be classified as medical devices. This is in line with the FDA's recent action to regulate DTC test kits as medical devices.
In the US, there has been a division in regulation between test kits that are sold on to other companies, which must undergo pre-market review and laboratory developed tests ('LDTs' or 'home brews'). Many DTC tests have escaped premarket review due to their classification as LDTs.
However, since 2010 the FDA began to alter its stance on the regulation of DTC testing, culminating in its letter to 23andMe in November of 2013. This letter stated that the 23andMe Saliva Collection Kit had not received appropriate 'marketing clearance or approval in violation of the Federal Food, Drug and Cosmetic Act (the FD&C Act)'. It went on to classify the kit as a 'device within the meaning of section 201(h) of the FD&C Act, 21 U.S.C. 321(h), because it is intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body'.
Furthermore, as of July 2014, US senators have written to the FDA requesting that they release Draft Guidance on the Regulation of LDTs, which it has had on file for some time. As so many companies are based in the USA, it would be beneficial for the FDA to take the lead. As the EU Medical Devices Directives are also currently under review, we will have to have to watch this space.
Since submitting this piece, the FDA has announced (31st July) that it is going to release guidance on LDTs in 60 days. (http://www.fda.gov/downloads/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/UCM407409.pdf)
However, according to footnote 4 of the Anticipated Details of the Draft Guidance for Industry, Food and Drug Administration Staff, and Clinical Laboratories, the FDA is not going to regulate DTC tests. This is not good news for improving regulation of DTC tests provided for health related purposes, and sits uncomfortably with the FDA's previous actions, as it has not previously produced specific regulation for DTC, but we will have to wait for the guidance to be released.
Footnote 4 reads:
'FDA generally does not exercise enforcement discretion for direct-to-consumer (DTC) tests regardless of whether they meet the definition of an LDT provided in this guidance. Therefore, the enforcement policies in this guidance do not apply to DTC tests, and FDA's usual enforcement policies apply to DTC tests'.
Andelka M. Phillips is Convener of the Oxford Medical Law & Ethics Discussion Group, and a DPhil Candidate, Faculty of Law and HeLEX - Centre for Health, Law and Emerging Technologies, Nuffield Department of Population Health, University of Oxford.