Blissful Genetic Ignorance - Will We Want to Know Our Genomes?

A couple readers have questioned me about the Genomic Revolution, wondering if people will truly want to know their genome even if they are able. As I mentioned in a previous post, people prefer to avoid thinking about things that seem both horrifying and inevitable. This is understandable. Would a person truly want to know that they are doomed to suffer from, say, Alzheimer’s disease or some other affliction that is commonly regarded as a fate worse than death?

While I can’t speak personally for anyone other than myself, I think that most people will ultimately prefer to know. As personal genomics becomes more commonplace, the mindset of blissful genetic ignorance will probably fade away. This wouldn’t be the first time that a new medical paradigm has changed public opinion about how much they should know. In a 1961 poll, 90% of US physicians surveyed said that they wouldn’t tell their patients if they had cancer. At the time, most doctors believed that patients would be better off not knowing since little could be done. But as cancer screening and treatment became more common in the subsequent decades, this mindset vanished almost entirely. Today it is hardly even imaginable that a doctor would not tell a patient if they had cancer.

There are so many advantages in knowing what conditions we are most at risk for. Ultimately, I think the knowledge of which of our unhealthy behaviors we most need to change (and which we can indulge in), and what prescriptions are most likely to be effective for our personal genome is simply more important than the unpleasant knowledge that we will eventually develop a certain condition. Practically everyone is at risk for something, and everyone accepts this. Would it really be so much worse for our psyches to know our specific risks instead of just a vague sense that we will develop something?

Please share your opinion. Would you want to know if you would eventually develop a disease?

The Future of Health Care - The Genomic Revolution

For the first time in decades, we are due for a completely transformational change in health care. We are on the cusp of the Genomic Revolution, and we will start seeing the earliest results in the immediate future. Personal genomics – the practice of tailoring prescriptions, treatments, and lifestyle choices to an individual based on their genes – will soon depose the old paradigm of medicine. No longer will doctors merely give patients the drugs with the highest chance of success; they will be able to predict whether or not the drug will be effective for a specific person. No longer will patients try to base their diet and exercise habits on generic recommendations of what is healthy and what is not; instead, they can determine the healthiest lifestyle for their genetic makeup specifically. Health care will become mostly preventative, rather than reactive.

Why now? What is the driving force behind this paradigm shift? For the first time in human history, we have enough computing power to cheaply and quickly sequence the human genome. In the very near future, nearly everyone will have access to their entire DNA code, which they can carry on their smartphones. When Craig Venter became the first person to have his genome sequenced in 2000 as part of the Human Genome Project, it cost $3 billion and took thirteen years. When James Watson had his genome sequenced in 2007, it cost $2 million and took two months. Today, sequencing a human genome costs about $6,000 and takes a couple weeks. Within the next year, it is very likely that companies will offer genome sequencing for less than $1,000. Some observers view the $1,000 mark as a tipping point: the point at which average people can afford the service, and at which health insurers may start covering it. And after we have $1,000 genomes, $1 genomes won’t be far behind. Let’s not forget that the cost has dropped nearly a thousandfold in the last three years. Fast-forward a few more years, and it is conceivable that the cost of genome sequencing will be essentially nothing. I envision a day in the not-too-distant future when Walgreens and CVS will have self-service genome sequencing machines, as quick, cheap, and user-friendly as self-service photo machines.

Of course, merely knowing one's genetic code is worthless without knowing how to interpret it. While biologists have identified thousands of disease markers, there is vastly more that we don’t know about our genetic code. Some services available now, such as Google-funded 23AndMe, can test DNA to determine one’s predisposition to a narrow range of diseases, but this is only the tip of the iceberg of what is possible. As the cost of genome sequencing approaches zero, nearly everyone will have it done. As the total number of genomes grows from thousands to millions to billions, scientists will have a treasure trove of data to analyze diseases and patient responses to medication. A machine called a microarray allows scientists to compare different DNA sequences and search for correlations. As more and more human genomes are available to be analyzed, patterns will become more evident and it will become much easier to unearth the specific genes associated with certain diseases. Patients who know the diseases for which they are at risk will be able to modify their lifestyle to prevent them from arising.

Those who are unlucky enough to get a disease in spite of (or because of) their lifestyle will have access to much more robust treatments than those currently available. By pinpointing the genetic location of a particular disease, scientists will be able to understand what caused the disease and how it can be reversed. Think of our genetic code like a computer program: Understanding the cause and location of the bugs will enable us to fix them. In the slightly more distant future, it will be possible to directly repair defective genes, such as those that cause cancer, through genetic therapy.

The next ten years will be the most transformative decade in human history for medicine, as we finally unlock the secrets of our genetic code which have been a mystery since the dawn of humanity. The things I have described here are by no means a comprehensive description of the benefits of the Genomic Revolution, and the new paradigm will not be without problems of its own. To be continued in another blog post…

PREDICTIONS:
By 2011 – At least one company offers genome sequencing for $1,000 or less
By 2014 – At least one company offers genome sequencing for $100 or less
By 2019 – Over half of all Americans have had their genomes sequenced
By 2021 – U.S. sales of personalized medicine (i.e. drugs tailored to the patient’s specific genetic profile) are greater than sales of non-personalized, mass-market medicine