Learning from the Misadventures of DTC Testing
Yann Joly, DCL
Yann Joly, Ph.D. (DCL), is a Lawyer and an Assistant Professor at the Faculty of Medicine, Department of Human Genetics at McGill University, as well as a research fellow from the Fonds de la recherche en santé du Québec (FRSQ) and a researcher at the Centre de recherche en droit public (Université de Montréal). He also works as an ethics and legal consultant in the private sector. Prof. Joly’s research activities lie at the interface of the fields of intellectual property, health law and bioethics. Link to complete bio here.
Personalized medicine is not a sprint, but a relay
Direct-to-consumer (DTC) genetic testing refers to testing (typically offered online) directly to the consumer and generally in the absence of a qualified healthcare provider. The current association that is often made between personalized medicine and private DTC online genetic testing services could be detrimental to this emerging medical discipline. The DTC experience is also informative as to the challenges personalized medicine could face in the coming years. In the model presented by DTC, a vast quantity of genetic tests is provided to the consumer, often without proper efficacy or quality checks or the use of a qualified intermediary (e.g. geneticist or genetic counsellor). What often results is a consumer bombarded with personal genetic information without the necessary preparation or knowledge to weigh its significance or to use it for meaningful health choices. Consequently, DTC could be both a cause of personal anxiety for patients and a source of unnecessary logistical and financial burden for healthcare professionals if these patients start bringing their “results” to the medical clinic for interpretation. It should also be noted that there is no guarantee that these “results” are anything other than conjuncture since validity is often questionable.
The lesson to be learned from DTC is that without planning, education, and the development of proper checks and balances, personalized medicine could achieve the opposite effect predicted by its proponents. Instead of empowering patients and promoting a more rational and efficient healthcare system, it could become a source of unnecessary anxiety for patients and an administrative nightmare for practitioners. If it is to have any chance of success, personalized medicine will have to be introduced gradually in the healthcare system. Science (e.g. a greater number of validated, useful tests), technological developments (e.g. security mechanisms to protect patients’ health data), and professional education (through university or professional development courses) will need to have reached a sufficiently high level to ensure a smooth, secure integration of personalized medicine into our healthcare system. Personalized medicine is not a sprint, where one has to be the first to develop a clinical product, but rather a relay, where all actors will need to be ready to carry the research and development baton in synch in order to efficiently contribute to the common goal of clinical translation and positive health outcomes.