- The Washington Times - Saturday, January 22, 2005

Elizabeth Bolden, 36, describes it as a family curse — the breast cancer that has affected many members of her family. Her mother and grandmother died of it. Last year, at 35, she got it.

“But I am not going to die. I’m going to beat it,” says Miss Bolden, whose dark hair, sprinkled with pink to honor the Race for the Cure, is closely cropped after completed chemotherapy.

The Race for the Cure is a series of annual breast cancer fund-raising 5K runs/walks. During the nationwide walks, breast cancer survivors wear pink.

Beating cancer, however, started long before Miss Bolden actually got it. She knew her family history was strong: In addition to her mother and grandmother, three of her great aunts had it, and her 42-year-old sister has just been diagnosed — and that her risk of getting breast cancer was elevated compared to the general population.

“After my mother died, I had my first mammogram. I was only 22 years old,” she says.

She attributes her vigilance in pursuing screenings — mammograms and breast self exams and doctors’ exams — and the subsequent early detection of the cancerous lump to this knowledge of a strong family history of the cancer.

Knowing one’s family medical history is important in treating and even preventing many major diseases, such as cancers, stroke, heart disease, diabetes and mental illness, says Dr. Philip Reilly, author of “Is It In Your Genes: The Influence of Genes on Common Disorders That Affect You and Your Family.”

“Currently, in the general practice of medicine, the most glaring weakness is the inadequacy of taking down family history,” Dr. Reilly says. “With a 10-minute questionnaire, you can hone in on disease and determine whether aggressive screening, dieting and exercise, or medication is needed.”

The most important family members to track are the so-called first-degree relatives — parents, siblings and children, says Dr. Azita Moalemi, cardiologist at Inova Mount Vernon Hospital.

“If you have congenital heart disease — heart valve problems, for example — your children could be at twice the risk of developing heart disease as the general public,” Dr. Moalemi says.

Sometimes it is difficult to find out what ailed older generations, but Dr. Moalemi encourages all patients to do their utmost in sketching as complete a family medical tree as possible.

“People who died a sudden death in their 40, chances are they died of a heart attack,” Dr. Moalemi says. “Their children need to try to find out.”

Genes, habits, environment

Dr. Moalemi says once patients know the “unmodifiable” risks — family history — they can start working on the “modifiables” — environmental factors and habits.

“Obviously, you can’t change who your mother or father is, and you can’t change your age — which is also an important factor in assessing risk for heart disease. And since you can’t change these things, you don’t want to add to them with a poor diet and little or no exercise,” Dr. Moalemi says.

On the contrary, patients can reduce their risk of heart disease by improving their diet and increasing the amount of exercise they get, she says.

For example, patients who have high cholesterol because of a strong family history usually can reduce the total level of cholesterol by 20 to 25 percent with improvements in diet and exercise, she says. That can be enough of a reduction to avoid medication, she adds.

If cancer, such as melanoma, runs in the family, it, too, demands changes in behavior.

“For melanoma, it should change the way you deal with sun, even at a very young age,” Dr. Reilly says.

All guidelines for prevention — whether concerning mammograms or time in the sun — are for the general public, he says, but once a person has a family history of a disease, he or she moves into a subgroup in which stricter guidelines apply.

Sometimes it isn’t possible to prevent the hereditary disease, even with increased screening and other preventive measures, but the patient might be able to delay the onset of the disease through behavior modification, he adds.

“The idea is that you use the genetic information to help move your trajectory of disease to older age,” Dr. Reilly says. “Instead of 55, wouldn’t it be great to die of a quick heart attack at 95?”

Though doctors agree that knowing family medical history is important, they can’t say exactly how important.

“If every member of your family has had coronary artery disease, you know you’re at an elevated level of risk. But what exactly is your risk? No one can say. Maybe you’re the one it skips,” Dr. Moalemi says.

Coronary artery disease occurs when the arteries that supply blood to the heart muscle become hardened and narrowed, which decreases the oxygen supply to the heart muscle. It is the most common form of heart disease and is the leading cause of death in both men and women in the nation, according to the U.S. Department of Health and Human Services.

Some people, such as Miss Bolden, want to know more about the genetic risk of a certain disease than a family medical tree can show, and they opt for genetic testing. This option can be costly; Miss Bolden says she spent about $3,000 to find out what gene mutation had caused her breast cancer.

“Knowledge is power; knowledge is your friend,” she says. “I wanted to know what my next step should be.”

The testing showed that her gene mutation would put her at an increased risk for recurrence of the breast cancer and at an elevated risk for ovarian cancer, she says. This led her to go with a more thorough mastectomy than even the surgeon recommended, and she also has decided to have her ovaries removed, knowing this will close the door on having her own children in the future.

“Thinking about recurrence all the time would have driven me crazy,” she says.

Future generations

Genetic testing is no substitute for sketching a family medical tree, says Allison Mitchell, director for the Cancer Genetic Counseling and Screening Program at Inova Fairfax Hospital Cancer Center.

“What’s happening in our field is very exciting, but I always tell patients that before genetic testing, there was tracking your family medical history. It’s important and easy to do,” Ms. Mitchell says.

Ms. Mitchell counts Miss Bolden among her patients.

In fact, writing down a family medical history helps her and her patients determine whether genetic testing is applicable.

“Patients want to have their entire genome looked at. But that would be very expensive and, really, useless unless we know what we’re looking for,” she says.

Also, knowing every single disease and condition that might strike is not necessarily productive, she says. There are no cures for some conditions, and psychologically, that is too much for certain patients to take, she says.

In the future, there may be gene therapy to help cure the diseases detected through genetic testing, Dr. Reilly says, “but we’re a long way away.”

In short, genetic testing at this stage is applicable for a select group of patients — those with a very strong family history and recurrence of disease — but sketching a family medical tree is important for everyone, Ms. Mitchell says.

“I feel like we can manage diseases well by looking at family history,” she says.

It’s not only important for one patient’s wellness, Dr. Reilly says. It can help that patient’s children live healthier lives, too.

“It’s really a three-generation issue,” he says. “You turn to your parents to see what they died from to help you and your children live longer.”

Protecting the next generation is one of the driving forces behind Miss Bolden’s vigilance in fighting her cancer.

“I have a 10-year-old niece, and she is very important to me,” she says. “I want to help her any way I can.”

She says the information she is collecting about her cancer will benefit her niece. Once she is a young adult, the girl might opt for early mammograms. If she wants to undergo genetic testing, she will know what mutation runs in the family, Miss Bolden says.

“It may be a curse — but it’s not a curse that’s going to take us down.”

More info:

Books —

• “Is It in Your Genes: The Influence of Genes on Common Disorders and Diseases That Affect You and Your Family,” by Philip R. Reilly, Cold Spring Harbor Laboratory Press, 2004. This book discusses the role of family history and genetic factors for almost 100 diseases and conditions. It also discusses possible preventive options if a person’s risk because of genetic factors is elevated.

• “Unlocking Your Genetic History: A Step-by-Step Guide to Discovering Your Family’s Medical and Genetic Heritage,” by Thomas H. Shawker, Rutledge Hill Press, 2004. This book explains how to integrate a family health history into genealogy, how to get the appropriate medical information and analyze it, and how to design a medical pedigree to detect genetic influence on the family’s health.

• “Your Genetic Destiny: Know Your Genes, Secure Your Health, Save Your Life,” by Aubrey Milunsky, Perseus Publishing, 2002. This book discusses longevity and describes the risks of inherited diseases, including heart disease, obesity and infertility. It also covers genetic testing.

Associations —

• Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30333. Phone: 404/639-3534. Web site: www.cdc.gov. The Office of Genomics and Disease Prevention at CDC provides information about genetic predisposition to diseases. For information on the Web: www.cdc.gov/genomics.

• U.S. Department of Health and Human Services, 200 Independence Ave. SW, Washington, DC 20201. Phone: 202/619-0257. Web site: www.hhs.gov. HHS started a public health campaign in 2004 to encourage all American families to learn more about their family health history. As part of the campaign, HHS offers an Internet-based tool to help people organize a family tree to identify common diseases that may run in a family. For more information on the campaign and to download the tool: www.hhs.gov/familyhistory.

Online —

• Mayoclinic.com (www.mayoclinic.com), a site owned by the Rochester, Minn.-based Mayo Foundation for Medical Education and Research, offers information about hereditary factors in developing diseases. It also provides tips on how to gather and organize information from relatives about diseases that run in the family. It offers tips on the most effective ways of asking about diseases, sometimes a sensitive topic.

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