Intensive Effort Required to Develop a Breast Cancer Risk Assessment Clinic

ATLANTA--Cancer programs and hospitals wishing to expand their services to include genetic counseling and testing should be aware that the staff and resource needs are intense, Constance Roche, MSN, RN, CS, said at a conference sponsored by the National Consortium of Breast Centers. Ms. Roche and Kevin Hughes, MD, who were instrumental in establishing the Lahey Clinic Risk Assessment Program, Peabody, Massachusetts, offered advice on establishing and operating such a program.

The Lahey Clinic program was established to identify, counsel, and manage the clinical surveillance of women at high risk for developing breast and/or ovarian cancers; and to counsel and reassure worried women who may perceive themselves to be at higher risk than their history indicates.

The first question to answer when considering such a service, Ms. Roche said, is, What services will the program provide? These could include cancer information (biology, screening, treatment); genetics information (family cancer incidence patterns, medical genealogy); counseling (assistance in making decisions to undergo genetic testing, coping with positive/negative results); diagnostic screening; physician examinations/services; and access to genetic testing.

The next operational question is, Who will you hire to provide these services? Potential staff could include an oncol-ogist, a medical geneticist, an oncology nurse or nurse practitioner, a genetics counselor and/or a medical social worker with medical counseling experience, she said. Several staffing models are used in genetic risk counseling programs throughout the country, involving various combinations of physicians, nurses/nurse practitioners, PhD's, genetic counselors, and social workers.

Ms. Roche stressed that, whether hiring a nurse or a genetic counselor, all potential candidates should be evaluated for their knowledge of cancer biology, science, and treatment; cancer risk factors and health implications; cancer genetics; counseling strategies; and genetic testing resources.

Be aware, too, that cancer genetics counseling is a new field, she said. There are as yet no certifications for nurses practicing in this field. Ms. Roche suggested that most staff will require some education and training to round out their skills.

"For example," she said, "most genetic counselors will have little knowledge of cancer, and what knowledge they have will probably involve pediatric cancers. By the same token, oncology nurses are well versed in cancer counseling, but will probably have inadequate knowledge of genetic science." In either case, the candidate will need intensive education to provide cancer genetics counseling.

Risk assessment clinics may be developed in a variety of settings, such as familial cancer clinics; clinical genetics divisions; breast centers; or departments of medical, surgical or radiation oncology, Ms. Roche said. The choice of location may be determined by the goals and strategic plan of the parent institution or by the interests of clinicians in these specialties, she noted.

Counseling Women

While a variety of information ser-vices are available through a genetic assessment clinic, individual counseling is the focal point for such programs. Typical counseling visits are "designed to frame the risk to enable the patient or client to take control of what they’re capable of controlling," Ms. Roche said. These individuals may be deciding whether to undergo prophylactic treatment or to have more frequent screenings.

Counseling sessions should include the following:

The patient’s experience with cancer.

The patient’s level of fear and anxiety surrounding cancer.

The family dynamics.

The patient’s current coping skills along with teaching of enhanced coping mechanisms.

Education about healthy lifestyles.

For Some--Genetic Testing

Only a portion of women who receive genetic counseling move forward with genetic testing. Except in select subgroups, such as the Ashkenazi Jewish population, genetic testing must first be completed for a living relative who has had cancer, to identify the family’s specific mutation. Once the mutation is known, individuals without cancer can be tested.

The complexity of the lab processes necessary to pinpoint a family mutation cannot be overemphasized, Ms. Roche said. The BRCA1 and BRCA2 genes are large, and mutations may occur at any location along the gene’s length. Therefore, the entire gene must be studied.

Even after testing, Ms. Roche cautioned, the results may not be conclusive. If no genetic mutation is evident, it is clearly possible that the cancers are not hereditary. It could mean, however, that the cancers are hereditary but are caused by a mutation in another gene, or that the family mutation was in a location of BRCA1 or BRCA2 that cannot be tested using current technology.

If the mutation is evident, there is no certainty when, or if, cancer will occur. So each woman must receive information and counseling that will allow her to make an informed decision before undergoing genetic testing. Women are also counseled to weigh the possible effect the test results and information may have on their wider family.

Women whose genetic makeup indicates a high risk for developing breast or ovarian cancer are given several treatment/surveillance options to consider. These include prophylactic mastectomy and/or oophorectomy; close surveillance (including mammograms, transvaginal ultrasound, and CA125 blood testing); and participation in appropriate chemo-prevention trials.

Test Results and Legal Issues

Dr. Hughes and Ms. Roche both cautioned that there are operational downsides to providing access to genetic testing, including malpractice implications. To prevent legal problems, they emphasized the importance of establishing guidelines for test eligibility, access to the test results, medical records storage of the test information, and regulations regarding test results disclosure to other family members.

The speakers noted that lawsuits have been filed in Florida and New Jersey against physicians who failed to notify family members of their risk of hereditary cancers.

Dr. Hughes said that while related aspects of genetic counseling for breast cancer are usually reimbursable (eg, physician visits, imaging, and any resulting surgical procedures or treatments), counseling services are rarely profitable on their own. Most patients receive one to three clinic visits, lasting 1 to 1½ hours. Counselors generally see two to three patients a day to a maximum of four.

General charges for genetic testing are approximately $2,400 for a patient who has cancer, and an additional $300 for an unaffected relative (once a family-based gene mutation has been found). Health insurance will cover these charges, but individuals may forgo insurance reimbursement for these tests, fearing discrimination--either insurance or work based--if test results show a family predisposition toward cancer.

For patients seen at the Lahey Clinic, all genetic testing, to date, has been done under clinical research protocols at no charge to the patient, Dr. Hughes said.

Individuals are referred to genetic risk assessment clinics from a variety of sources, including oncologists, gynecologists, and pathologists, as well as self-referral. The Lahey clinic maintains a website (www.familycancer.org) and provides brochures, public lectures, introductory letters to physicians, and media releases as part of its marketing efforts.

Ms. Roche cautioned: "It is vital to get good at providing the services and at helping individuals cope with the psychological impact of test results, both positive and negative, before looking for headlines and publicity."