This week saw the introduction of what I believe is Canada’s first personal genomics service offering. Toronto’s Medcan Clinic paired up with California-based Navigenics to scan individuals’ genomes for a variety of disease markers.
Personal genomics is a burgeoning trend this year, which according to a special report in April’s Economist, will only be further boosted by a Moore’s Law-type improvement in sequencing power and price. Available service offerings range from whole genome sequencing (e.g., Illumina and Knome) that costs tens of thousands of dollars to targeted scans typically offered for under $500 by a much wider variety of providers (Navigenics, 23andMe, deCODE and Pathway Genomics).
Regulation of DTC Testing:
In the U.S., the regulatory environment has settled down somewhat over the last 6 months, with most U.S. states regulating DTC genetics companies as clinical labs and the providers registering as such on a regular basis, including CLIA certification. However, the HHS Secretary’s Advisory Committee on Genetics, Health and Society is due to meet in October to further discuss whether DTC genetic tests should be regulated as medical devices. The CDC has released a report entitled “Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions” setting out best practices both for testing and interpretation.
In Ontario, there are a number of regulatory considerations (thanks on these points for input from Will Chung, of our renowned Life Sciences team):
- Private labs and specimen collection centres require licenses and are governed by the Laboratory and Specimen Collection Centre Licensing Act (LSCCLA). However, blood collection at such facilities is governed by separate legislation which controls who may draw blood and for what purpose.
- The LSCCLA requires that only “legally qualified medical practitioners” are permitted to examine specimens, which means that patients may not directly order testing of their own blood at private licensed labs.
- Ontario’s Regulated Health Professions Act stipulates that communicating a “diagnosis” is a “controlled act” which may only be performed by a person authorized by a health profession Act, although it is not clear that DTC genomics results are a “diagnosis.”
Medscan seems to have navigated the regulatory waters, but time will tell how these laws are applied and/or modified.
In the EU, the European Society for Human Genetics advocates for pre-market review for “truthful labeling and promotion” as well as post-market evaluation of DTC genetic tests. In May, Germany passed a law restricting the availability of DTC genomics services by requiring testing to be carried out by a licensed doctor following the patient’s consent.”
How much protection do consumers need?
Many commentators are concerned with the public’s ability to understand these tests and distinguish between those that are clinically meaningful and those that are more … snake-oily. Others object on the basis that there is little value added absent any available treatment — many preventive measures are things we already know we should do, like eat well, exercise, etc. A number of groups, including advocacy group Genetic Alliance and the Genetics and Public Policy Center at Johns Hopkins University have called for a national registry of DTC genetic tests that would include performance data.
Others (and not just 23andMe’s founders) take a more libertarian view. Ronald Bailey, the science columnist at Reason, agrees that people probably don’t need to be “protected against learning such information without the guidance of a knowledgeable physician or genetic counselor.” In fact, a lawsuit in May brought by a girl born with Fragile X syndrome against the sperm bank that didn’t test for the predisposition may drive higher demand for genetic testing in the fertility context which may in turn drive supply of services and diagnostic tools and may contribute to normalizing broader parental testing and pre-implantation screening.
Interestingly, a NEJM report a couple of weeks ago showed no lasting psychological damage from a genetic prognosis of increased Alzheimer’s risk. By the time a year passed after the results, subjects who had an increased Alzheimer’s risk were no more depressed, anxious, or distressed than when they started the study.
Most importantly, 98% of patients in the Alzheimer’s study who tested positive said they would still get tested if offered the choice again. 98% is a lot. It suggests that DTC services will be increasingly popular, particularly as the price drops and the quality of the data, the analytics and the available counseling continue to improve.
Stay tuned to this page for further DTC genetics news and analysis.
