Cancer’s Family Tree : More Americans Are Turning to Genetic Counseling and Analysis to Assess Their Own Risk

When comedian Gilda Radner died of ovarian cancer in 1989, the tragic story of her illness included these remarkable facts: Radner’s aunt, a first cousin and, possibly, her grandmother also had suffered from ovarian cancer.

Her overwhelming family history elevated her risk of developing ovarian cancer from one in 70 to one in two. Radner’s family history, however, came to light too late to prevent early detection of her own cancer.

Cases such as these have compelled an increasing number of Americans to pursue genetic counseling to assess their individual cancer risks, a service known as cancer risk analysis.

While a few programs have existed for years at universities with genetics programs, cancer risk analysis programs suddenly have become very popular: last year alone, at least three of them opened in Southern California.

And as scientists make rapid advances discovering genes linked to specific hereditary diseases, many geneticists argue that risk analysis will become more important as a first step in cancer prevention.

Most current programs target people who have a parent or sibling with breast, ovarian or colon cancer--diseases known to have a strong familial link.

“In 1991, we can make very specific recommendations to keep people from dying,” says Dr. Jerome I. Rotter, director of the Stuart Foundations’ Cedars-Sinai Disease Genetic Risk Assessment Center, a program for cancer risk as well as for other major illnesses such as heart disease and diabetes. “It’s more than just knowing you’re at risk. You can take steps to prevent coming down with the disease or be able to cure it at an early stage.”

For example, Rotter says, someone with an elevated risk of breast cancer could take advantage of more frequent mammograms and seek counseling about early warning signs. Further, altering diet or taking vitamin supplements might be suggested to offset cancer risk. Someone with a high risk of prostate cancer might also consider getting more frequent examinations and reducing fat in his diet since a high-fat diet is implicated in that cancer.

Consumers have shown great interest in the programs. The publicity surrounding the opening of the Cancer Prevention Center at the UCI Medical Center last year, for example, led to a deluge of appointments booked six months in advance, says co-director Dr. Huan Le.

“People are scared about cancer, especially if they have a close relative die,” Le says. “They don’t know where to turn. They cannot turn to their own physician, because they aren’t trained to do this kind of analysis. They can’t turn to an oncologist because they don’t have cancer yet.”

Says Dr. Patricia Kelly, a geneticist who started a cancer risk assessment program seven years ago at Children’s Hospital of San Francisco: “This is a service that is going to be increasingly available in communities. People are asking for it, or even demanding it.”

But not everyone is sold on the necessity of the services. Some health-care experts question whether genetics knowledge is sufficient to make risk assessment practical.

In the case of cancer, for example, actual genetic markers that predict the development of cancer have been found for only a few rare cancers: retinoblastoma, an eye cancer, and Wilms tumor, a rare kidney cancer in children.

As for being able to use genes to predict the development of more common cancers, “We’re nowhere near that yet,” says Dr. Brian Henderson, director of USC’s Kenneth Norris Jr. Comprehensive Cancer Center. Norris does not offer risk assessment, although it has a program to identify women at high risk of breast cancer.

Genetic factors may be responsible for about 5%-10% of all cancers, says Dr. Henry Lynch, director of a cancer-genetics program at Creighton University in Omaha and a renowned expert on cancer-prone families. An additional 20% exhibit a family clustering although the genetic factor may not be well-defined.

But Henderson says he fears some risk assessment programs will emphasize genetics over simple lifestyle factors, such as a high-fat diet and smoking, which contribute heavily to some cancers.

“The message gets more complicated than it has to be,” he says.

Another criticism is that the programs might take advantage of people’s cancer fears.

But, says Kelly, risk assessment has the opposite effect:

“The times I’ve found people are most anxious is when they don’t have sufficient information. There is nothing more scary than the unknown. I find the more solid information I can give people, the better off they are.”

Deborah Clark and her sister Deedee Highfill could hardly be accused of having irrational fears about breast cancer.

Their grandmother, mother and two aunts have had it and their great-grandmother may have died from the disease.

“To our knowledge, every woman on the maternal side of our family, with the exception of two, have had breast cancer and died or have had mastectomies,” says Clark, 40, of Redlands.

The sisters have entered the Cancer Risk Program at Memorial Medical Center of Long Beach to find out how they can minimize their risk.

Clark says the chance of developing breast cancer has weighed heavily on her: “I’m aware not only of the potentiality of death but that it can mar my physical being as well. I want to know as much as I can about the disease and take all the preventive measures.”

Highfill, 39, of Artesia, says she doesn’t worry about her risk, but feels that it would be a big mistake to deny family history.

“There is nothing wrong in talking about it,” she says. “I think a lot of women feel they are better off if they don’t know. That’s just not true. If it saves your life, how can it be something that is unapproachable?”

Had Clark and Highfill not considered family history they might have concluded that their risk of breast cancer is the same as all American women--one in nine. In fact, having a close relative with breast cancer triples their risk.

Cancer risk assessment takes population-wide figures and shapes them to the individual.

For example, numerous studies have shown that breast cancer risk increases among people with a family history of breast cancer, who have never had children or who had their first child after age 30.

Colon and rectal cancer rates are highest among people who also have a history of polyps on the colon and who ingest a high-fat, low-fiber diet. Ovarian cancer is more common among women who have never had children (the rate doubles) and who live in North America and Northern Europe, while such rates are lower in Asia and Africa.

Age is also an important determinant, geneticist Kelly says. An American woman’s lifetime chance of developing breast cancer is 9%. The risk is only 2% for women under age 50, however, and 6% for women under age 70.

But breast cancer that tends to run in families often strikes at the average age of 42. And families with a high incidence of colon cancer tend to develop the disease at age 44, while over age 60 is usually more typical, Creighton’s Lynch says.

Still, statistics also show 75% of women who get breast cancer have no risk factor other than being a woman and getting older.

“I get a sense from many women that they need facts distilled for them as individuals and not published as population statistics,” says Wendy Schain, a psychologist who counsels women in the risk assessment program at Memorial Medical Center, which specializes in breast cancer.

“It has enormous benefit for reducing anxiety and making information manageable and helping to increase the probability of their going for health-care screening and surveillance. When anxiety is so high, many women become helpless and immobilized.”

While formats vary from program to program, counseling usually takes about three sessions, with time allowed between sessions to gather family medical records.

At Memorial Medical Center’s breast cancer risk program, the first session is devoted to completing a detailed questionnaire about family history. A pedigree is constructed and records of pertinent family members are gathered, says June Peters, a genetics counselor.

The second session explores individual characteristics, such as lifestyle and dietary factors that can affect cancer risk.

At the third visit, family records are reviewed, the information is summarized and the client receives recommendations for screening and cancer prevention.

Some programs, such as UCI’s, include a physical examination. Others offer sophisticated laboratory tests to identify genetic makeup.

At Children’s Hospital of San Francisco, for example, entire families can give blood samples that are kept in storage in a process called DNA banking. DNA is the genetic material found in all living cells.

Blood samples are stored so that, should scientists discover a gene linked to a particular illness, a family could have its DNA analyzed for presence of the gene--even if some family members have since died. The technique to determine a genetic link usually cannot be done without DNA from several family members.

“It seemed to me that it was only a matter of time before tests for more common cancers would be around,” Kelly says. “If, in the meantime, the family members died, we would not be able to make use of the test.”

In some rare cases, geneticists might recommend obtaining a tissue sample in order to grow “cell lines,” a perpetually living line of an individual’s DNA that can be used for sophisticated tests later if necessary, Rotter says.

Fees vary among the programs but are likely to cost about $150 for each hourlong consultation. Lab tests, such as DNA banking, cost extra. Insurance coverage varies widely among companies and patient circumstances. At Long Beach, a limited grant allows officials to offer the service to some women at reduced rates.

The ability to give recommendations for screening and prevention is what differentiates cancer risk programs directed by board-certified geneticists from less-sophisticated programs that use a computer to calculate risks, says Rotter, of Cedars-Sinai.

“There are a variety of programs around the country. Some are based on computer programs,” he says. “In some, you fill out questionnaires and they will counsel you.”

Such programs raise awareness but are inadequate to make recommendations regarding individual risk, he says.

Sisters Clark and Highfill, for example, will leave counseling with many recommendations to consider: Regular self-examinations, more frequent breast examinations by their doctor and yearly mammograms. They will review the importance of a low-fat diet (a high-fat diet has been implicated as a risk factor in breast cancer) and may consider changing their eating habits.

They may even consider subcutaneous mastectomy, removal of the breast tissue and replacement with implants, to minimize cancer risk. Finally, both sisters say they are trying to reduce stress, on the chance that stress can weaken the immune system and increase cancer risks.

But almost as important as the actions they take to prevent cancer, they say, is the peace of mind they’ll take home.

“It has been so rewarding,” Clark says. “It’s cathartic almost. There is an emotional aspect of going through the family history, not just our genetic makeup but our emotional makeup. We’ve discussed how my grandmother and mother reacted to stress.”

The counseling has brought the sisters even closer, they say.

“It has been helpful to my sister and I in talking through this,” Highfill says. “I’ve been really thankful to have her there.”

In a family shadowed by a dismal medical history, both feel they are the lucky generation.

“We can make changes in our lives with information my mother never had,” Clark says. “We don’t know if it will lessen the outcome or not. But it gives us a feeling of being a little more in control.”