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
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.
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 theyre 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 patients experience with cancer.
The patients level of fear and anxiety surrounding cancer.
The family dynamics.
The patients 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
familys 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 genes 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."