Opening new doors, raising issues in medicine

By Marshall Allen

Sunday, April 12, 2009 | 2 a.m.

Medical research spearheaded by Dr. Francis Collins is revolutionizing health care.

The discoveries are making it possible for people to base their medical decisions on their genetic predisposition for various diseases. They also opened the door to a brave new world that is largely unregulated and fraught with pitfalls related to privacy, direct-to-consumer genetic testing and using genetics for purely cosmetic purposes.

At the National Institutes of Health, Collins oversaw the Human Genome Project, which in 2003 completed the monumental effort of mapping and sequencing human DNA, the hereditary blueprint that’s encoded in cells and contains the biological information needed to build and maintain a person.

Collins was recently awarded the 2009 Nevada Medal by the Desert Research Institute. He spoke with the Sun about the implications of his genetic discoveries, and, given his Christian beliefs, the intersection of faith and science.

What is personalized medicine?

Within the next five years, the cost of sequencing your entire genome will drop to $1,000 or less. We can identify how genetic risk factors predispose certain people to certain diseases, and then we might modify their environment or their medical treatment to reduce that risk.

We are closer and closer to the point where each of us can find out what our future might hold — not that these are deterministic, hard-wired conclusions, but the glitches in DNA can skew your odds up or down for certain conditions.

Type II diabetes is a good example. There are no less than 18 different places in the genome, specific genes, that have variations that predispose people to diabetes. So right now, with that information, we can find out who’s at highest risk. That can be pretty useful for a disease that is quite preventable.

A lot of things people are being recommended to do are things we should all do: Watch your diet. Watch your exercise. Don’t smoke. But somehow when it’s connected to this report card of your own DNA, it’s more motivating.

There are cautions to knowing this genetic information. If you’re thinking about this diagnostic opportunity, you want to know what you’re going to do if a risk is identified. In some cases, like Alzheimer’s, we can make good predictions but nothing can be done if you’re high risk. And if there’s a treatment to offer, then you have to weigh the risks. It ends up being a fairly complicated calculation.

The psychological burden of knowing these genetic risk factors has been studied — we probably know the most about Huntington’s disease, where the genetic test is highly accurate. Some people who might be at risk for it because they have an infected parent may choose not to get tested because of the chance they’ll have a positive answer and have a cloud that follows them around.

We should protect people’s right not to know this information. Some people won’t want this information and I don’t think it should be forced on anybody. You should be able to say this is not something you want to carry around with you.

Are there laws to keep our genetic information private? What laws should be considered in the future?

President Bush signed the Genetic Information Nondiscrimination Act into law on May 21, 2008. That bill says that if your insurance company should happen to find out information about your DNA, it may not use it to set a higher premium or exclude you from coverage, and if it does, there are criminal penalties. If your employer finds out about your DNA and uses that to make a negative decision about hiring or firing or promotion, they are liable for serious charges as well.

I’d also like to see some attention to oversight of genetic testing. Organizations are marketing genetic tests to the public that, frankly, are bogus. There is nothing being done to try and weed out bogus science, and there’s a real risk people will get turned off and decide they don’t want to have anything to do with the field.

In terms of the economics of health care, we need a shift from waiting until people get sick to trying to prevent it. But our health care system generally doesn’t reimburse for prevention even though it will save them and us costs down the road. There needs to be a real shift in the direction toward more prevention.

Through in vitro fertilization, couples can use genetics to select the gender of their children, and to lesser degree their hair and eye color. What do you think of this?

There’s no oversight in the country to make sure this doesn’t happen. In England, interestingly, there is such an authority. In the U.S., it’s a free-for-all.

It comes down to whether children are to be viewed as a commodity. Are we stepping into the role of trying to engineer offspring that are an extension of ourselves? I think there’s something deeply disturbing about stepping into that space and applying to it our own personal and often selfish desires about what we think we want, as opposed to thinking about what would that child need.

For me, as a Christian, I think stepping into that space seems also to be taking on roles that we traditionally have considered more to be God’s plan and not our plan. There are big problems with that type of manipulation of outcomes when we’re not talking about preventing terrible diseases. We’re trying (for) a cosmetic result that suits our personal needs that won’t be much advantage to the person created in the process.

Some say science and religion are incompatible. How do you view the intersection of the two?

I wrote about this in a book called “The Language of God.” I was not raised in a religious home. I became an atheist by the time I was a graduate student in chemistry. But I realized that my stance on atheism was arrived at because it was the answer that I was most comfortable with and not necessarily the answer that was the most rational.

After struggling with what the evidence looks like, I came to the conclusion that belief is much more rational than atheism.

After traveling through the world’s religions I realized that the special nature of Christianity, and who Christ was, had a calling to me. I became a Christian at age 27.

When you go to ask a question you have to know what kind of question it is and therefore what is the right set of tools to answer it. If it’s a question about “Why am I here?” or “What’s the meaning of life?” or “Is there a God?” then science is not going to be useful. Either you have to decide those are questions that are irrelevant and shouldn’t be discussed or you have to step outside pure materialism and have another world view, which is a spiritual one. As long as you’re clear about the kind of questions you’re asking then there is really no conflict between having both a scientific and a spiritual world view.