More About "Personal" Genomics

No, I didn't make a mistake in the title. I know we talk about genomics and personalized medicine a lot, but in this case I really was referring to "personal genomics". We need more conversations, discussions and debates about how we as a society are going to deal with the inundation of personal gene and DNA information that is coming our way in the brave new world of $1000 genomes.

I have already written some on the subject in a previous post about the promise and the concerns.

I have also provided some links last week to some further information on the subject.

This week saw (at least)  two new entries into this important discussion that I thought were worthy of passing on.

The first of these was a wonderful show on the series "Nova" from WGBH Boston called "Cracking Your Genetic Code".  I thought it was a particularly good treatment of the whole science behind genomics and personalized medicine. If you missed it, or can't get it, for now the show is available online at http://www.pbs.org/wgbh/nova/body/cracking-your-genetic-code.html.

I really encourage you to invest the hour watching this show - it is excellent in my view.

The other is a particularly good article written by Christine S. Moyer of the (American Medical Association) Amednews.com staff. In this piece she writes more about the issues of what are we going to do with all of the information that we might be gleaning very soon. Entitled "Genome sequencing to add new twist to doctor-patient talks", it is written from a health care, ethical and societal point of view - exactly the debate that I have been insisting that we have not been having  nearly enough of.

I am very glad to see that these discussions are expanding and that the issues are starting to come out on the table. We owe it to ourselves to become much better informed and to steer this brave new world or else it will swamp us!

Join the Ontario Health Study

If you live in Ontario (Canada) then I encourage you to be an active research participant (and it's easy to do!) and be part of the Ontario Health Study (OHS). The OHS website is here.

Not limited to cancer, but to all chronic diseases, the Ontario Health Study is a huge research undertaking that takes community involvement to the limit. You can help!

In their own words:

The Ontario Health Study is an ongoing research study investigating risk factors that cause diseases like cancer, diabetes, heart disease, asthma and Alzheimer’s. If you live in Ontario and are 18 or older, you can take part in the OHS by filling out health-related questionnaires online. Researchers will use this health information to study how our lifestyle, environment and family history affect our health over time and to develop strategies for the prevention, early detection and treatment of diseases.

Welcome to the World of Genomics... [Part Three]

In the last post [World of Genomics Part 2] I tried to give you a flavor of just how far and how fast the science of genomics has progressed in the last decade. We are truly getting to a point where an individual human DNA sequence will be available for $1000 or less.

There is also increasing prospect of what is called “direct to consumer" products where you will be able to order your genome from a company on the Internet without any intervention by your physician. In fact, I suspect this is already happening in limited ways but will pick up steam very soon as the affordability continues to drop.

As much as the technology will afford us an unprecedented technological advance into our understanding of human diseases such as cancer, it is my belief that this era of “cheap” genomes is also ushering in some unprecedented questions of ethics and law that we are not yet facing head on, and need to start debating and discussing as a society ASAP.

Top of the list perhaps are issues of privacy and confidentiality. 

Where is your genome sequence going to be stored? I could imagine an app on your smart phone in the not so distant future! Do we really want to have our genomes floating around in cyberspace? Do we trust some central database (e.g. a government database) to house this information? I will wager that many of you already feel uncomfortable about the fact that the CRA in Canada or the IRS in the United States holds so much informational power over you by having your detailed tax records and related files in their databases. 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?

The privacy and confidentiality issues lead us then to questions such as insurability. Suppose an individual is carrying seven particular mutations that might, and I stress might, predispose them to a particular disease. And suppose that information is now made available to an insurance company, and as a result life insurance or mortgage insurance or some other form of insurance is denied because the risk is deemed to be unacceptably high? What happens then?

What, in fact, does “predisposition to disease" really mean anyway? In the vast majority of cases this is not a clarion signal that the disease will develop. It merely says that you MIGHT need to take different levels of precaution than your neighbour in order to prevent or avoid that disease from occurring in the first place.

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” vs. your “right to know”? In some jurisdictions, such as France, the obligation of a physician to disclose this information is enshrined in law, as I understand it. In the US and in 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 actually mean anything finite in the immediate sense of the word? If there is nothing you can do, then how important is it for you to know? Is it your right to know?

And even if it is your right to know, is it possible that we will end up creating so much anxiety and stress in individuals who learn of a particular mutational status that we will in effect “stress” them into the very diseases we are trying to prevent? The notion of creating so many self-fulfilling prophecies is very real in my view .

And then there are issues of economics and policy. The better able we are to define specific sets of mutations and to tailor treatments to those sets of mutations, it could be imagined that we will need more and more targeted drugs. While targeting and specificity are a good thing, most of these drugs are not cheap! One could rightly ask why would we be developing more and more expensive drugs when we can't even afford the ones that we have now.... 

And how will decisions be made about who has access to which drugs? We already see significant differences in Canada from province to province about cancer drugs that are paid for by the public health system in one province but are not available to patients in a neighboring province.

And from a policy maker's point of view, it could be fair to ask "how much is X months of someone's life worth?" If an expensive drug can prolong a cancer patient's life by six months, for example, who makes the decision about "at what cost"? I can easily see that if the patient in question is your mother, or your son, or your sister etc. then you might justifiably argue that ANY cost is worth it - you are prolonging the life of a loved one.

But if you are the Minister of Health and you have to look at this in terms of benefit vs. cost to society at large, you no doubt will need to look at this more objectively and dispassionately.

The answers to these kinds of questions will come from new kinds of cancer research, but it won’t be in the usual laboratory settings. Instead, we need to accelerate our efforts into research in:

  

•  health economics of cancer
• how will money be best spent?
• health services research
• how will services be best organized?)
• health policy research
• how will information be provided to policy makers for best use?)
• ethics research
• how will resources and access to service be maintained in the fairest way for all patients? 
• how will we protect vital personal and confidential information? 
• who owns the data? 
• who defines a patient's “need to know” vs. "right to know”?)  

The point is, that we are at a stage in the development of very powerful technologies that are going to create opportunities but also some very fundamental ethical issues that I do not believe we are ready to deal with at the societal level.

There have been a few other technological “tsunamis” that have broken on society and changed our world irrevocably in the past. One of these was of course the advent of nuclear technology and all of the good and ill that brought with it. 

Another was the development of recombinant DNA technologies that brought with it the modern era of molecular biology, of which these genome science opportunities are the latest wave. I am not old enough to know what sort of public consultations, if any, accompanied our ushering in of the nuclear era, but I do very much remember some of the public debates that happened in the early 70’s around the advent of the new molecular biology.

Without in any way suggesting that 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 overdue. 

These issues are too important and the ramifications are too far-reaching to not have these debates and discussions right now…

Public Engagement in Research: The good, the bad and the ugly...

I have provided two links below to two blog posts that you should read.

One of them makes a valid point, one in which I concur totally, that science and research, especially biomedical research, that has somehow "divorced" itself from the very public and patients it seeks to serve, is folly. In my view, not only must the public be "informed" of the results of scientific endeavour on their behalf, but they should be meaningfully involved in its conduct and in productive (but objective, informed and knowledgeable) ways to help steer its agenda. After all, it is almost always public money being spent on research - whether that money is in the form of involuntary taxes or voluntary contributions to your favourite health charities.

In one of these posts, Misha Angrist from Duke University argues very cogently that if we do not find better paths of "inclusion" we will all be worse off in the conduct of research.

But in this day and age of blogs, and Facebook and Twitter and all other forms of all things Internet and the immediacy of social media, the public actually has more power than we might realize. But do we wield this in the best interests of science and research?

The other post, from Steven Novella of Yale University details how politics has overtaken science in the popularization of the so-called "liberation therapy" for multiple sclerosis. I know that in Canada, the MS Society, a very reputable and first rate health charity (in my opinion), has been besieged and criticized for its "we need more evidence" stance on the issue, but the "forcing" of them and of provincial and federal governments to fund research on this therapy (whether warranted by the evidence or not) has been a clear demonstration of the power, for good or ill, of social media and the Internet in bringing unrelenting public pressure to bear.

I recognize that it is nigh on impossible for an MS patient, or a cancer patient, to be asked to sit back and to suggest that they wait for the real evidence to come in, when faced with the tantalizing prospect of some new treatment modality that MIGHT help them right now. How could a patient or his/her family and caregivers exhibit that kind of objective restraint?  That is why I said above that the public needs to help to steer the research agenda, but only when they are objective, informed and knowledgeable. We have to take our responsibilities seriously and become better informed if we want to productively contribute to much needed public debates on issues such as these.

In the end, if Ministers of Health, public policy makers and heads of research granting agencies do not base their decisions on sound evidence, then research will become increasingly prone to politicization and be overrun by emotion as opposed to logic, evidence and facts.

I hope I am never in the position of having to walk that slippery tightrope between wishing and hoping for something because a loved one is in desperate straits, vs. the scientist in me that says that if we abandon evidence in making public policy, health and medical decisions, then we may as well close up the research shop for good....