There are about three billion base pairs of DNA in each of our cells, which collectively provide the genetic blueprint that makes each one of us an individual. If you were to able to read out your own DNA sequence from start to finish, it would take you a lifetime, so enormous is that number of three billion. Yet in 2001, we accomplished the determination of a “composite,” or reference, human DNA sequence and in 2007, we achieved for the first time the complete sequence determination of a single individual human being.
The ability to sequence whole genomes is advancing rapidly, such that the prospect of “personalized” or “precision” medicine is looming – the idea that we will treat individuals based on the specific mutations that underlie their particular disease. One might call it the era of “personal genomics.” For diseases like cancer, researchers around the world are trying to catalogue as many disease-causing mutations as possible. Global efforts like the International Cancer Genome Consortium are devoting millions of dollars and unprecedented amounts of research to this.
Genome scientists have been proven correct in their assertion that the costs will continue to go down dramatically. Indeed, companies are already touting the introduction later this year of automated sequencing machines capable of determining the entire sequence of a complete human genome in less than one day for a cost of less than $1,000.
In other words, it is not out of the question that our own doctors may soon be ordering tests for us that will see the complete determination of our individual genome as part of a diagnostic regimen.
Already there are “direct to consumer” products that enable you to order your genome from a company on the Internet without any intervention by your physician at all. This will no doubt become more popular as it becomes more affordable.
But even as it advances our understanding of human diseases such as cancer, the era of cheap genomes is ushering in questions of ethics and law that we need to start debating and discussing as a society.
At the top of the list is the issue of privacy and confidentiality.
Where is your genome sequence going to be stored? I could imagine an app on your smartphone in the not-so-distant future. But do we really want to have our genome floating around in cyberspace? Do we trust some central database, perhaps maintained by a government, to house this information? I cannot imagine a piece of information more personal or more confidential than my own detailed DNA sequence. Will I really trust that it will be kept secure on the Internet or in someone’s file cabinet? Or on a jump drive in my pocket?
This leads us to questions such as insurability. Suppose an individual is carrying a particular mutation that might, and I stress might, predispose them to a particular disease. And suppose that information is made available to an insurance company and coverage is denied because the risk is deemed to be unacceptably high? What happens then?
What does “predisposition to disease” really mean anyway? In the vast majority of cases, this is not a clarion signal that disease will develop. It merely says that you might need to take different levels of precaution than your neighbour in order to prevent that disease from occurring.
And if your doctor is able to determine from your mutational status that you have a predisposition to some particular disease, what about your “need to know” versus your “right to know?” In some jurisdictions, the obligation of a physician to disclose this information is enshrined in law. In the United States and Canada, there are no such regulations yet. Who is going to make the decision about when your health care professional should, or must, advise you of your mutational status, especially if it doesn’t lead to any specific action? If there is nothing you can do with the information, how important is it for you to know? Is it your right to know regardless?
And even if it is your right to know, is it possible that we will end up creating so much anxiety in individuals who learn of a particular mutational status that we will “stress” them into some of the very diseases we are trying to prevent? The prospect of a self-fulfilling prophecy is very real.
The point is that we are at a stage in the development of powerful technologies that are going to create opportunities but also some fundamental ethical issues that I do not believe we are ready to deal with as a society.
There have been a few other technological “tsunamis” that have broken on society and changed our world irrevocably. One of these, of course, was nuclear technology and all of the good and ill that came with it.
Another was the development of recombinant DNA technology that brought with it the modern era of molecular biology, of which these genome science opportunities are the latest wave. I am old enough to vividly remember some of the public debates that happened in the early 1970s around the advent of the new molecular biology.
Leaving aside the question of whether the outcomes of those debates and consultations were appropriate or not, at least an attempt was made to engage the public and to inform people of what was coming, and to attempt to assess it from both a benefit and risk perspective. I don’t see the same level of engagement happening now with the new genome technologies and I think it is long overdue.
These issues are too important and the ramifications too far-reaching, to doctor and patient alike, not to have an open debate and an active discussion now.
Dr. Michael A. Wosnick has recently retired from his post as vice-president, research, for the Canadian Cancer Society and scientific director of the Canadian Cancer Society Research Institute. He brings cancer research to the non-scientist via his personal blog, Cancer Research 101.