I am a genetics researcher, medical trainee, and passionate about the potential for genomics to revolutionise how we diagnose and treat certain diseases. But, as a Canadian citizen, I would not have my own genome tested.
At least, not yet.
Genetics is fascinating. All of the cells in our bodies contain DNA, a molecule divided into genes. Genes are like recipes that carry the instructions for the proteins produced in our cells. Variations or changes in genes can alter protein function, resulting in effects ranging from how an individual responds to a drug, to the presence of a genetic disease. The complete set of genes in our cells is called the genome—our own personal protein recipe book.
Due to breathtaking advances over the past decade, it has become affordable to analyse our entire genomes, even determining the exact sequence. This has allowed for genome analysis to move from the realm of research and difficult-to-solve clinical cases into routine clinical care. Many say that this could revolutionise health care—‘genomic medicine’ will allow for the development of personalised drugs, and the causes of previously unsolvable genetic diseases to be determined.
As a graduate student studying human genetics, I spend my time exploring the use of genome sequencing in clinical practice. My daily efforts are focused on understanding the factors affecting the realisation of genomic medicine, and the benefits of these new technologies for patient diagnosis, care and treatment.
So why do I refuse to personally take part? I fear discrimination based on my genes.
Science outpacing policy
There is currently no legal protection against genetic discrimination in Canada. Canadians could be refused life insurance, fired from a job, or denied a promotion on the basis of testing positive for Huntington’s Disease or carrying a genetic variant that predisposes you to breast cancer. Unlike the other G7 nations, employers and insurance providers in Canada could feasibly make decisions based on genetic information. In 2008, the United States passed the Genetic Information Non-Discrimination Act, which prohibits employers and health insurance providers from discriminating on the context of genetic information. Yet, Canada lacks similar protection.
Fortunately, this could soon change.
The major political parties are in agreement that science has greatly outpaced legislation. After a bill proposed by the Conservatives did not have time to become law before the current Liberal government took office, now-retired Senator Jim Cowan introduced a more comprehensive Senate private members bill: Bill S-201, An act to prevent genetic discrimination. With arguments offered in support and opposition to the need for such legislation, the bill ran into problems when concerns emerged that its effect on the insurance industry would overstep into provincial jurisdiction. After the election of the Trudeau government, an updated version of the bill was introduced that passed through the Senate—as well as the Commons and Senate committees on human rights — with support from across the parties.
But, during the most recent debate, Liberal MP Randy Boissonnault introduced a series of amendments on behalf of the government. These amendments would essentially gut the bill, dramatically reducing its scope, leaving most of Canadians without any protections from genetic discrimination. The amendments surprised opposition parties, as well as members of the Liberal party, who have harshly criticised the proposed changes.
When asked to comment, now-retired Senator Jim Cowan stressed the importance of the bill: “I have heard too many stories of Canadians experiencing genetic discrimination, of doctors unable to treat their patients, of preventable cancers and drug reactions – and all because we don’t have laws protecting Canadians against genetic discrimination. That is simply wrong, and that is what Bill S-201 would fix.”
There is a second hour of debate coming up next month, which will be followed by a final vote. It is now up to the Liberal government and the House of Commons to ensure protective measures are instituted. Until then, Canadians will continue to be at risk.
The future of genetics
What I find the most fascinating about genetics, and why I choose to work in the field, is the unpredictable progression of the technology, and our constantly changing understanding. With each passing year, scientists publish new discoveries about the genome, finding errors in what we previously thought to be true.
This constantly changing knowledge base is also what terrifies me. Seeing how much we have discovered in the last ten years only hints at what we might discover in the next. I cannot predict what information our genomes will reveal, but before I agree to have mine sequenced, I want to know that I am protected from being discriminated against based on whatever those discoveries might be.
Complicating all of this is the shared nature of genetic information. Unlike a typical medical test, genetic results not only affect us—but our families. Although much of our genome is identical, a small fraction of it varies from person to person. It is this variation that helps make you unique. We share half of this genetic information with our parents and siblings. We share one-quarter with our grandparents, aunts, uncles, and nieces and nephews. We even share 12.5% with our first cousins. Who am I to make a decision to have my genome interrogated entirely on my own when it could impact my sister, my parents, and even my future children?
Until legislation is passed, we lack necessary protection. In the same way, I am deterred from having my genome analysed, others will be, too. This has serious implications for progress in health care, as patient participation is essential in order for the benefits of this technology to be realised in the clinic. Those who are not dissuaded, on the other hand, are put at risk for discrimination. It is absolutely crucial that this issue be addressed by Parliament as quickly as possible so that all Canadians can equally benefit from the astonishing advances in genomic medicine.
Michael Mackley (Maritimes & St John’s 2014) is a Canadian Rhodes Scholar from Dartmouth, Nova Scotia, currently working on his PhD at the University of Oxford. Michael studies inherited disease and realisation of genome sequencing in clinical practice, including its impacts and implications.
Many thanks to Julianne Stevenson and Amba Kak for reviewing drafts of the article.