The Health, Wellness & Beauty Pages

By Theresa Curry • Contributor • August 8, 2010

One day, Dr. Francis Collins ran his own personal experiment, a test of his life’s work as it might apply to the man on the street. For 15 years, Collins — a Staunton native — led the Human Genome Project. He is now director of the National Institutes of Health.

No patients, monkeys or mice were needed — because he was serving as his own human subject — nor did he need a laboratory. Collins simply scraped some skin from the inside of his cheek and spit into a tube. From these tiny scraps of his body, he knew he could uncover the secrets of his medical heritage and future, clues that hadn’t emerged during the long lives of his parents, Fletcher and Margaret Collins, Staunton cultural leaders who each lived to be 98.

Collins chose three commercial laboratories to analyze his DNA, sent off samples and waited for the results. He’s a medical doctor, a Ph.D and the world’s most famous geneticist, but the truth is that anybody with $399 can do what Collins did. Not only can we find out what our risks are, we can find out what medicines might help us or hurt us and get a picture of how we might intervene in our own medical future. Other genes predict smaller, more eccentric human differences, such as ear wax production and sensitivity to bitter tastes.

Collins was surprised to find he was at some risk for diabetes, and he resolved to improve his diet and to exercise more. This approach, based on our own one-of-a-kind genetic profile, is called personalized medicine.

Collins wrote about the enormous effect personalized medicine can have in his book, “The Language of Life,” and he answered questions via e-mail about the changes DNA profiling is bringing about in the medical field.

Collins said doctors are already paying attention to the genetic make-up of their patients, whether or not they use the term “personalized medicine.” One example is the cholesterol test, a blood test that provides an assessment of your risk of a heart attack, a number determined both by your genes and your diet.

Anyone who takes prescription or over-the-counter medicines should know about pharmacogenomics, an area of personalized medicine where Collins predicts rapid growth.

“This involves using genetic information to select the right drug for the right patient at the right dose at the right time,” he wrote.

Already, he said, some doctors are using genetic tests to guide prescriptions and adjust the doses of some anticoagulant drugs that can cause strokes or heart attacks in certain people. Likewise, he said, genetic testing identifies people at high risk of suffering serious reactions to abacavir, a widely used anti-HIV drug. Scientists recently associated one gene with a reaction to certain statins, the drugs prescribed to control high cholesterol.

Using your genetic information, your doctor can find the best type of statin and the best dose to make sure you don’t suffer muscle pain and weakness in exchange for lower cholesterol.

“Still,” Collins wrote, “it is fair to say that personalized medicine has yet to touch the lives of most average Americans in a major way.”

He expects that to change during the next five to 10 years, and he predicts a day in the not-too-distant future when people will have their genes mapped as a routine part of medical care, which doctors then will use to develop individual strategies for the diagnosis, treatment and prevention of disease.

In his book, Collins tells the story of a hypothetical family whose members avoid obesity, heart failure and other diseases by knowing their greatest risks in advance. Genetic testing also showed one member was a carrier for cystic fibrosis, information that might inform a decision about marriage and parenthood. In Collins’ imaginary couple, the other parent was not a carrier, so the test results brought a sense of relief.

What you can do now

If, like Collins, you want to know your genetic risks before testing becomes part of your ordinary medical care, you can use one of the many direct-to-consumer services that promise large-scale analysis. He warns in that some services are more reliable than others, and you should do your research.

Collins recommends asking for information about your results as they relate to certain drugs. One source of testing is DNA Direct, which also provides information about testing specifically for drug response. He also recommends everyone use a web-based tool to check for prescription and over-the-counter drug interactions that pose risks regardless of your particular genes.

Collins said one of the most useful genetic tools is free — your family health history. If you track down the health histories of your parents, grandparents and other blood relatives, your doctor has a better picture of your disease risks and can recommend better strategies for keeping you and your family healthy.

Collins recommends My Family Health Portrait, a free, web-based tool developed by the U.S. Surgeon General. It’s available at www.hhs.gov/familyhistory/.

“We also need to remember that genes do not operate in a vacuum,” he wrote. “There are other important risk factors for most common diseases, such as smoking, diet and exercise. So, any truly personalized approach to health care will need to take into account each person’s lifestyle and environment.”

In the hypothetical family, the father and son avoided the obesity predicted by their genes by taking great pains with diet and exercise.

Health care changes

When personalized medicine becomes commonplace, doctors and other health care professionals will have a better understanding of how the bodies we inherit interact with outside influences, such as toxins, traumas, viruses and lifestyles, Collins said. Already, clinical guidelines are changing to make genetic tests and treatment based on genes part of routine care. Everyone, Collins said, including medical professionals and social workers, will be affected by this change.

The ethical questions

Ethical dilemmas accompany every revolutionary advance, Collins said. Some are easy to predict from the beginning and others are completely unexpected. He sees issues of privacy, discrimination and equal access to care as the major challenges.

The Genetic Information Non-discrimination Act, a federal law, has addressed some issues by prohibiting discrimination in insurance coverage and employment on the basis of genetic information. But other concerns remain, he said. The National Human Genome Research Institute, part of NIH, devotes 5 percent of its budget — the world’s largest investment in bioethics research — to studies of the ethical, legal and social implications of genetic research.

Back to Collins’ own experiment: Should he ask to know his risk for Alzheimer’s disease? Three other scientists were among the first to see their own genome mapped, and only one cared to know this risk factor. He found he had three times the normal risk for Alzheimer’s disease, Collins said.

If there aren’t appropriate interventions now, is this knowledge helpful? In the end, Collins also chose to know, and was relieved to find out he had only a normal risk. Of course, he points out in his book, neither he nor the other man are certain they will either get or nort get Alzheimer’s disease. Collins said those who do have greater risk for certain diseases can modify their lifestyles, make plans for future care and also make sure they stay informed about any new medicines that might help. But he acknowledged that even with these advantages, many of us would choose not to know.

In the end, we need to keep moving forward to fulfill the promise of personalized medicine, Collins said.