Dr. Francis S. Collins, M.D., Ph.D., Director of the National Institutes of Health, recently spoke with NIH MedlinePlus magazine coordinator Christopher Klose about the importance of personalized medicine, and what it means to families and the individual.
One of your top five priorities for NIH is to advance personalized medicine. What does this mean for the average American?
Personalized medicine means taking better care of ourselves, beginning with learning as much as possible about your family's medical history.
What is a family medical history?
It is knowing the medical challenges faced by your parents, your brothers and sisters, your grandparents. It is a snapshot into a person's own potential risks, based on inherited components of diseases.
How is it useful?
When we look at the strongest risk factors for cancer, heart disease, or diabetes, for example, family history is right at the top of the list for all of those. Yet, this information is rarely taken as seriously as it should be. It is very important to systematically collect your family medical history.
Collecting a family history sounds complicated.
Fortunately, it isn't. The Surgeon General, working with the National Human Genome Research Institute here at NIH, has put together a very user friendly tool that enables you to record your own family's medical history in a secure database. It is called My Family Health Portrait. It is available both on the Internet (see www.familyhistory.hhs.gov) and in print.
“Personalized medicine is empowering.”
— NIH Director Dr. Francis Collins
How does it work?
The computer asks a set of simple questions about your closest family members. For example, about your siblings, their ages, and what diseases or conditions they may have, such as cancer or high blood pressure. Once you've entered the information, you can print it out in a standard form, called a "pedigree." Doctors use them to evaluate their patients.
Does this mean interviewing my relatives first?
Yes. The people closest to you matter most. So, if you know about your grandparents, your parents, and your siblings, you have collected a lot of the important information your healthcare professional needs to help make predictions about your own health.
In this age of genomic medicine, wouldn't it be simpler and quicker to have my DNA analyzed?
DNA testing can help in specific situations, and it's even possible to have a rough screening for risks of common diseases from a sample of saliva—but, family medical history is generally the place to start. It provides a pretty good sampling of your genome without actually having to do any lab work. It will point to, perhaps, some areas for special attention. People should definitely collect their family histories and discuss them with their healthcare providers to see if there is any reason to go forward with specific DNA testing; for instance, someone who has a very strong family history of colon cancer.
4 NIH Sources to Help You Help Yourself
1. Smoking: By far the most important step to reduce your risk of cancer, heart disease, and emphysema is to quit smoking. Smoking is addictive, and quitting is hard. But help is available! Start at Where To Get Help When You Decide To Quit Smoking at the National Cancer Institute and follow the many helpful ideas there (including free personal counseling from the National Cancer Institute) that have helped millions kick the habit.
2. Breast cancer: To assess your own risk on the basis of family history, age, history of breast abnormalities, age at first menstrual period, and first delivery (if any), go to Breast Cancer Risk in American Women at the National Cancer Institute. If your risk is substantially higher than one in eight, talk with your doctor. For more information, see BRCA1 and BRCA2: Cancer Risk and Genetic Testing
3. Colorectal cancer: Early diagnosis provides the best opportunity for cure. Currently it is recommended that, starting at age 50, everyone undergo regular colonoscopy. The National Cancer Institute has an online tool that allows individuals to assess their risks, based on family history, diet, amount of exercise, and use of tobacco. See http://www.cancer.gov/colorectalcancerrisk.
4. Cancer risk: If you have a family history of cancer, or any indications of heightened personal risk based on previous genetic testing or early warning signs, consult with your physician to be sure you are taking advantage of all possible methods for surveillance and early detection. Stay current with the latest developments in cancer prevention and genetics at http://www.cancer.gov/cancertopics/prevention-genetics-causes.
Would you recommend DNA analysis for everyone?
I would strongly recommend it for someone with a family history of early onset colon cancer, for example, or for women in families with an unusual number of individuals with breast and ovarian cancer. Those kinds of special circumstances, which are not all that rare, can be really nailed down by specific DNA testing. If you are in a family with many other individuals affected by cancer, finding out that information can be life saving, even though it presents some challenging options for intervention.
Are you saying that part of the new personalized medicine is to take individual responsibility, despite the potential consequences?
Yes. Personalized medicine is empowering because your personal genetic and other predictive information allows you to take action that is specific for you—rather than the "one size fits all" approach. For example, maybe I don't want to know I'm at increased risk for macular degeneration, a common cause of blindness in elderly individuals—unless. Unless there's something I can do about it. In that case, tell me now!
You not only cracked the human genome, you've had your DNA analyzed. What was the upshot?
I found out I'm at increased risk for diabetes, even though there's no family history of it. My first-degree relatives are remarkably skinny, so perhaps they've managed to control their risks by being lean. I was looking a lot less lean when I got my DNA results and realized I should have been paying attention to my weight, diet, and exercise. It motivated me to say, "Okay, Collins, maybe it's time to take some action."
Have you done anything about your weight?
I've been exercising, including one hour of weight training three times a week, and a little bit of cardio. I've modified my diet to skip those muffins and honey buns that used to be my downfall. I've lost 23 pounds and weigh 180 for the first time since college. It feels pretty good.