For people with a family history of genetic disease, genome sequencing is an opportunity to receive valuable information that could impact not only their lives, but the lives of their children and grandchildren.
As if the existential implications of being diagnosed with an inheritable disease aren’t a great enough burden for those being sequenced, in Canada a rather more mundane concern has reared its head: the impact of test results on insurance premiums.
The Genetic Non-Discrimination Act (GNA), which became law last May, made it illegal to require individuals to disclose genetic test results or to compel individuals to undergo genetic tests for any agreement or service and threatened prison time and hefty fines for anyone trying to obtain test results for employment, housing, custody, adoption or insurance decisions. However, a subsequent legal challenge by the Quebec provincial government has thrown the GNA into jeopardy and prompted a robust defense of the Act from scientists in the May issue of the Canadian Medical Association Journal (CMAJ).
In their commentary in the CMAJ, Dr. Yvonne Bombard of the Li Ka Shing Knowledge Institute at St. Michael's Hospital and Bev Heim-Myers, a chair of the Canadian Coalition of Genetic Fairness, argue that in just a year of implementation, the GNA has had a positive effect: “It has already begun to allay patients’ fears, encourage participation in genomics research, and empower patients and their families to take genetic tests and preventive measures to reduce risks of future diseases.”
The Quebecois legal bid targets the constitutionality of the law, rather than its ethics. The appeal argues that as the insurance industry is regulated at the provincial, rather than federal level in Canada, the country-wide GNA should be overturned in Quebec. If this happens, the Canadian Supreme Court will rule on the Act’s fate.
Speaking to Technology Networks, Bombard says she fears that repealing the Act will have implications across public life beyond just insurance claims: “A study I conducted in 2006 uncovered a rather common occurrence of genetic discrimination across Canada and I am concerned that without these protections in place we will revert back to the realities that existed before the Act, which was that 40% of the population of patients at risk of Huntington’s disease that I surveyed across the country indicated that they had experienced genetic discrimination – most often in reference to getting access to a life insurance policy and long-term disability insurance but also across many other domains.”
Insurers are eager to obtain any healthcare information that affects its clients’ risk of illness, and genetic test information represents perhaps the ultimate advance notice for providers. For example, nearly all patients with a positive genetic diagnosis of Huntington’s disease, a neurodegenerative disorder which is a risk to nearly 20,000 Canadians, will develop symptoms including chorea and declining cognition followed by death on average 15-20 years after diagnosis. The dominant nature of Huntington’s means that a positive result indicates an increased risk for all of the patient’s children: even if a Huntington’s patient with just one copy of the mutated gene has children with an unaffected partner, the genetic risk of passing the disease on is still 50%.
For Huntington’s patients, the trauma of a positive diagnosis with a currently untreatable disease may be the dominant factor in a decision not to be tested (9% of Huntington’s deaths are due to suicide, a risk which increases following a positive diagnosis). Nevertheless, discrimination still weighs heavily on patients with genetic disorders for whom testing can not only give valuable information for family planning but can help patients adopt lifestyles that could mitigate disease symptoms or risk. This was illustrated by study results showing that two-fifths of patients being screened for hemochromatosis, a blood disorder that can lead to a toxic and potentially fatal (but treatable) build-up of iron in the body, think that the potential impact on insurance makes getting tested a bad idea. Bombard highlighted the fear of discrimination has prevented genetic testing in cancer patient communities, and even for children with developmental diseases: “In pediatric communities, individuals are seeking genetic testing for their child to find an answer and provide a diagnosis for what has been a long diagnostic odyssey with many doctors and different types of invasive tests. Again, when faced with the opportunity to have a genetic test that may finally provide a diagnosis, these parents are denying themselves and their family the tests and the subsequent diagnosis and treatment.”
Bombard says that the Act’s scope has grown along with advances in medical technology, which is increasingly able to leverage genetic screening to anticipate disease. The Act, she says, now has implications for the general public beyond protecting patients with hereditary disease: “With the precision medicine initiatives globally, there are going to be more patients and individuals from the general public who are offered genome sequencing to inform their personalized healthcare.”
This battle between science and insurance is not limited to Canada. The USA has had a similar law against genetic discrimination for health insurance and employment in place; the Genetic Information Non-Discrimination Act of 2008 (GINA). GINA faces its own, more clandestine challenges. HR1313 is an amendment to GINA tabled by the GOP, that would permit genetic testing by employers for “Employee Wellness Programs”, a nebulous term covering almost any program an employer decides is for the health benefit of its workers. The law even permits an effective penalty to those not disclosing such information; workers keeping their genetic information private would face a 30% hike in their employer-sponsored health coverage (on average over $5,000). HR1313 has been lambasted by American science. A scathing release from the American Society of Human Genetics (ASHG) saw science policy director Derek Scholes state that under HR1313, “Employers would be able to coerce employees into providing their genetic and health information and that of their families, even their children.” If improper use of the data on our Facebook profiles is enough to cause global outrage, potential abuse of our children’s genetic data is perhaps a privacy violation too far.
Whilst the legislation on testing stalls, diagnostic technology using gene sequencing marches on, as advances in pre-natal Down’s Syndrome testing and multigene cancer testing show. These innovations could make a huge difference for patients and healthy individuals who want to take advantage of the promise of precision medicine. Bombard and Heim-Myers conclude their review bluntly: “All Canadians deserve access to the best possible health care without fear of genetic discrimination.”