LOS ANGELES (March 8, 1999) -- When Marcia Litt was diagnosed with breast cancer at age 48, she was worried about more than her medical outcome. Her fears also focused on the possibility that her children -- and other family members -- could develop the same disease. Marcia had already seen two of her aunts succumb to breast cancer, and began to wonder if there might be a genetic susceptibility to the disease within her family.
"I gradually became proactive about educating myself about cancer," said Marcia, who underwent a lumpectomy, lymph node surgery, radiation and chemotherapy in 1997. Initially she was afraid to explore the subject for fear of learning more than she could emotionally handle. But with time that hesitation turned to action, as she began to seek information about the disease and, ultimately, decide to pursue genetic counseling and testing. She credits that decision with saving her life . . . and possibly the lives of those she loves.
Last year, Marcia was one of more than 130 people evaluated by the GenRISK program at Cedars-Sinai Medical Center. Program director Maren Scheuner, M.D., M.P.H., hopes that number will grow as more people become aware of both GenRISK and the benefits it can provide in recognizing and reducing the risks of potentially life-threatening diseases.
Utilizing state-of-the-art genetic consultative services, GenRISK provides genetic risk assessment, diagnosis, testing and counseling for such common, chronic conditions as cancer (including breast, colon, endometrial, kidney, ovarian, prostate, skin and thyroid), diabetes, heart disease, hemochromatosis and stroke. The program is designed for individuals who may have a genetic susceptibility to certain conditions.
David L. Rimoin, M.D., Ph.D., Steven Spielberg Chairman of Pediatrics, Director of the Ahmanson Pediatric Center and Director of the Medical Genetics-Birth Defects Center at Cedars-Sinai, calls this ?customized environmental engineering.? ?Why give up everything that looks good, tastes good or smells good?? he says. ?Just give up those things which will affect your own individual predisposition.?
A genetic susceptibility means that a person carries a mutation (change) in a gene (or genes) that has a major effect on disease development. It does not indicate when or if the disease will occur, only that an individual is at a greater risk. A genetic susceptibility may be suspected by one or more of the following:
- An early age of disease onset, typically 10 to 20 years sooner than expected
- Disease occurring at multiple sites, for example atherosclerosis (cholesterol build up) involving the coronary arteries as well as the arteries of the neck (carotid) and legs
- Disease occurring in paired organs, for example cancer occurring in both breasts
- The occurrence of more than one related condition in a single family member, for example breast and ovarian cancer in a sister
- The occurrence of the same disease or a related disease in two or more family members from one side of the family, for example colon cancer in a father and colon or endometrial cancer in his sister.
This kind of information can have far-reaching consequences. For Marcia, genetic testing indicated that she had a mutation in the BRCA-I gene that increases her susceptibility to not only breast cancer but ovarian and colon cancers as well. A mutation in this same gene also indicates a greater susceptibility to prostate cancer, a potential concern for men in the family. Marcia plans to make her genetic information available to other family members so they may participate in genetic counseling and testing. Those who test positive can take appropriate steps toward cancer prevention, and those who test negative can be reassured they are not at increased risk for cancer.
For Marcia, the results of her screening confirmed her worst fears but, at the same time, provided a sense of empowerment to take control of her health. "At first I felt sad, but I wasn't surprised," she remembered. "I realized this information could save my life."
With results come recommendations for different options for disease prevention. Dr. Scheuner works with GenRISK genetic counselor Helen Hixon, M.S., and clinical social worker Marcy Polsky, M.S.W., to develop and provide comprehensive management and prevention strategies for each patient. Intensive preventive screenings are an important component that can lead to earlier detection and better outcomes. Medications and vitamins that target a particular genetic susceptibility may be recommended to decrease disease occurrence. For individuals with susceptibility to breast, ovarian, endometrial or colon cancer, prophylactic surgery may reduce occurrence of these cancers.
"Our patients are fabulous and very appreciative of our efforts," said Hixon, who added that one patient came all the way from Texas to be evaluated by the GenRISK program staff for endometrial and ovarian cancer risk. "Most of our patients have never had someone sit down with them for two to three hours to talk about their health concerns and appropriate health strategies."
GenRISK staff also provides guidance on healthy lifestyle choices, including changes in diet, increasing physical activity and avoiding certain habits. Because genetic susceptibility information may have important implications for the health of close family members, the program can help identify those family members at risk and facilitate access to genetics professionals worldwide.
For Marcia, these recommendations include the option of surgery to remove her ovaries -- she has up to a 50 percent risk of developing ovarian cancer. She is also considering prophylactic mastectomy, since the possibility of a second breast cancer is also greater. These are difficult decisions, Marcia acknowledged, but she is determined to do whatever is necessary to fight these diseases. In the meantime, she is taking Tamoxifen, which blocks the effects of the estrogen that might speed tumor development, and has launched into a new nutrition and exercise regimen.
"I've cut my fat intake by 50 percent and learned a whole new way of eating," she reported.
Another patient who is enthusiastic about his experiences with the program is "Robert," who was also looking for answers to the coronary artery disease that had plagued him for several years. ("Robert" does not want his identity revealed because of concerns he and others share about possible discrimination and stigmatization by employers or insurers. GenRISK keeps all genetic information in strict confidence.) Though Robert seemed to exhibit none of the typical risk factors for the disease -- obesity, sedentary lifestyle, high cholesterol -- he had experienced several heart attacks in his late 40s that culminated in a subsequent bypass surgery.
"Even though my father had coronary artery disease, I didn't view myself in line with his condition, because we had different physiques -- I guess I was naive about the genetic aspects of the disease," said Robert, who decided to take a more proactive stance in hopes of slowing the progression of his condition. As with other patients, he was also concerned about the potential of his children developing the same health problems.
"I felt like nothing I had done -- lifestyle changes, drug therapy -- halted the progression of the disease, and the only thing left was genetic testing," he remembered. "Surprisingly, it was the most rewarding. The traditional medical methodology is to wait until you're sick and then treat the problem. With genetic screening, you can look into the future and make changes that can benefit both you and your family."
The results of Robert's genetic screening indicated he had inherited several genetic markers of increased cardiovascular risk that had gone undiagnosed and may have contributed to his disease progression, including elevated homocysteine and Lp (a), and an atherogenic LDL particle size. Each of these genetic risk factors can be modified with medications and vitamins, and he has embarked on a program that addresses his "total health picture." The knowledge supplied by his genetic screening has left him "cautiously optimistic" about the future. With the recommended regimen, he has already seen changes in his lab results.
"When I look at my lab results and EKG today, compared to my baseline, I can feel emotionally more comfortable that I'm getting the best treatment available in Southern California," he stated.
For Marcia, facing cancer has developed into a deep commitment to helping others through education on early diagnosis and treatment. She has established the Marcia E. Litt Breast Cancer Foundation (e-mail address: am1147@aol.com) and, among other projects, is in the process of producing a calendar for the year 2000 that spotlights breast cancer survivors and provides information on the disease. Proceeds from its sale will go to organizations that support breast cancer research and education.
"This is my way of trying to help others who may face this catastrophic disease," Marcia explained. "Nearly 45,000 women will die this year from breast cancer, and I thank God I'm not one of them. I feel truly grateful."
For more information on the GenRISK program, call 310-423-9913 or visit the program's website at http://www.csmc.edu/genetics/genrisk.