BY: DEBORAH D. HOOD, JEFFREY G. SHAW, and P. TERRENCE O'ROURKE, MD, FACS
Ms. Hood is director and Mr. Shaw is genetic counselor, Penrose Cancer Center,
Colorado Springs, CO. Dr. O'Rourke, former medical director, Penrose Cancer
Center, and a former CHA board member, is chief medical officer, Centura Health,
Englewood, CO.
A Colorado Facility Brings Genetic Testing and Assessment to Its Community
It is an unfortunate fact of life that many women live in fear of contracting
cancer, particularly breast or ovarian cancer. Genomic medicine is beginning
to change this, however. Women who undergo genetic counseling and subsequent
gene testing receive answers that dispel these fears and allow them to make
decisions directly related to their personal situations. The Hereditary Cancer
Service (HCS), at Penrose Cancer Center, Colorado Springs, CO, offers such counseling
and testing.
Cancers and Their Therapies
Two pairs of genes, BRCA1 and BRCA2, are involved in the normal control of breast
cancer growth. Indeed, an abnormality in the BRCA1 or BRCA2 tumor-suppressor
genes indicates a high lifetime risk of developing not only breast cancer but
ovarian cancer as well. These cancers have a much greater chance of occurring
early in life than do others.1 Women who have positive results in
genetic testing can choose to have their ovaries removed, thereby drastically
reducing their risk of developing ovarian cancer.2 They may also
choose to undergo prophylactic mastectomy, which significantly reduces the risk
of breast cancer, or to increase their vigilance through regular mammography
or MRI screens of the breast.3 Women who test negative, on the other
hand, will learn that their risk levels are the same as that of the general
population. Such knowledge should reduce anxiety, especially in women who have
a family history of the disease.
The same is true of testing for colon cancer. People who carry a mutation in
the APC gene, which causes familial adenomatous polyposis (FAP) should undergo
flexible sigmoidoscopy or colonoscopy every year. Children with a parent who
has FAP should begin these procedures at age 10. The authors know a man who
has a faulty APC gene and is the father of four children. The oldest child,
a girl aged 10, recently was tested and found not to carry the mutation. Since
she did not inherit the faulty gene from her father, her risk for colon cancer
is no higher than that of anyone else in the general population. Her parents
were greatly relieved to learn that she will neither have to live in fear of
developing FAP nor undergo annual screening procedures. The other three children
will be tested soon. If they are shown to have inherited the faulty gene, they
will have a nearly 100 percent chance of developing colon cancer, and a 93 percent
chance of developing it before they turn 50.4
Hereditary Cancer Service
We began the HCS at Penrose Cancer Center in 1997.* In the program's early stages,
we focused on breast cancer genetics, counseling from 37 to 59 patients each
year. In late 1999, we decided to expand the program, launching a concerted
effort to reach more at-risk families. Last year, we counseled 151 new patients.
The HCS has three tracks:.
- Education and Information We provide cancer genetics information
to physicians, patients, families, and the general public through community-wide
seminars, physician conferences, health fairs, and other programs
- Risk Assessment/Pedigree Analysis Following referral by a physician
or self-referral, we collect and evaluate the patient's family history. On
the basis of that history, we assess the risk to the patient of developing
the disease and help him or her develop a surveillance plan for it.
- Testing When indicated, we conduct genetic testing to confirm the
presence of a hereditary cancer syndrome.
In 2000, the program received grants from the Colorado Springs affiliate of
the Susan G. Komen Breast Cancer Foundation and the El Pomar Foundation. These
grants allowed us to provide care for women who had concerns about their breast
and ovarian family histories but lacked money for testing and counseling.
These patients paid a nominal fee of $20 for the first visit and $15 for follow-up
visits. The grant covered the remaining program expenses.
* Penrose Cancer Center is a member of Penrose-St. Francis
Health Services, Colorado Springs, which is in turn a member of Centura
Health, Englewood, CO, a member of Catholic Health Initiatives, Denver
The annual cost of HCS operations is approximately $70,000, which includes
salary and benefits for a full-time genetic counselor. The program provides
services primarily for the metropolitan Colorado Springs area. However, once
a month the genetic counselor travels to Pueblo, CO, to offer services at St.
Mary-Corwin Medical Center, a sister Centura Health facility.
Referral Sources
In 1997, when the HCS began, physicians referred 72 percent of patients. Today,
64 percent of referrals come from physicians, 18 percent are referrals from
other health care providers, and 18 percent are self-referrals.
Sixty percent of HCS referrals from physicians come from the standard cancer
specialties, surgery and medical and radiation oncology, which is evidence that
the relatives of a person diagnosed with cancer have become concerned about
their own chances of developing the disease. The relatives certainly benefit
from turning to a genetics service. Still, society has a long way to go toward
establishing a preventive approach to cancer.
This is especially true with regard to risk assessment for colon cancer. Until
2004, our program had only a few colon cancer referrals each year. Assuming
that 5 to 10 percent of colorectal cancer is inherited and that 10 to 20 percent
is familial, we would expect, in our service area, a minimum of 40 patients
with an inherited colorectal cancer predisposition per year.5 In
addition, there would be some 200 others with a significantly increased risk
for colorectal cancer, based on family history. In our experience, unfortunately,
few primary care physicians refer patients for colorectal genetic assessment
and counseling. There is obviously a need for more physician education about
preventive care.
Toward this end, the HCS has developed a one-page newsletter that we call Genetic
Fax. Several times a year, we send it via automatic fax to both referring
and nonreferring physicians. Genetic Fax, which is meant to provide physicians
with a snapshot concerning a specific topic of genetics, is inexpensive to produce.
Probably because the newsletter reminds physicians about the importance of assessing
colon cancer risks, we typically see an increase in referrals for a time after
the newsletter is sent out.
We also see a jump in referrals after Myriad Genetics representatives visit
physicians in the Colorado Springs area. Myriad Genetics is a Salt Lake City-based
biopharmaceutical firm that specializes in the development of diagnostic and
therapeutic products. Both the Genetic Fax and the Myriad Genetics visits
help build and maintain awareness of our program.
Marketing to the general public via educational presentations and advertising
can lead to increased self-referrals. In 2001, we created a print ad that boosted
breast and ovarian cancer referrals during that year. Today, our community is
reasonably well educated about the benefits of genetic counseling for women
who are at risk of developing breast and ovarian cancers. That is not the case
with colon cancer. To close that gap, we plan to create an ad that stresses
the importance of genetic counseling for colon cancer.
Patient Concerns
A primary concern for many prospective patients is the cost of counseling and
gene testing. In our community, grant funding has eliminated many of the financial
barriers to breast and ovarian cancer counseling. In addition, most insurance
programs now cover gene testing when counseling shows a high risk of cancer
and indicates that testing would be beneficial. In both the general population
and in certain minority populations, people express concerns about confidentiality,
particularly about potential discrimination from employers or insurance companies
if testing results should become known to them.
Because of such fears, few African-American women undergo counseling or gene
testing. In 2002, the ANGEL (African-American women Nurturing and Giving Each
other Life) network was formed in Colorado Springs to provide African-American
women clinical breast exams and inform them of the importance of having mammograms
done. Thanks to ANGEL, referrals of African-American women to the HCS for genetic
counseling have increased from five, for the years 1997-2001, to 30 in 2002
and 2003. Even with these referrals, however, only 11 families actually have
pursued genetic counseling.
There is still a great deal of fear of discrimination due to genetic information—as
well as a general distrust of the health care system—among African-American
people. Additional work is needed to break down African-American distrust in
particular, and distrust of genetic counseling in the general population.
A New Acceptance
Of the patients our program sees, approximately 63 percent are eligible for
genetic testing. The number of patients who actually decide to pursue such testing
has increased significantly in recent years. In 1997, only 33 percent of those
offered testing decided to pursue it after their initial genetic counseling
appointment. Today, more than 90 percent of our patients choose testing. The
exact reasons for this trend are unclear, but we suspect that it is due to increased
awareness and acceptance of genetics on the part of the public, and to the fact
that medical science now has data showing that screening and prophylactic surgical
intervention can reduce breast and ovarian cancer mortality.
Patient Surveys
All of our patients who receive counseling are mailed a follow-up survey one
year after their initial genetic counseling appointments. To date, we have had
a 72 percent response rate. We preface each question with the phrase, "Since
your initial appointment with the Hereditary Cancer Service . . ." The
questions and responses are as follows:
Have you made any changes in your breast cancer surveillance?
Eighty percent of those respondents who had not already made such changes did
do so as a result of their breast cancer risk assessments.
Has your anxiety level regarding your risk for cancer increased, decreased,
or not changed?
One concern regarding genetic testing, counseling, and risk analysis is the
possibility that a patient found to be at increased risk for cancer will experience
increased anxiety. However, only five of our patients-a very small percentage-have
reported increased anxiety regarding their risk for cancer. This is especially
interesting considering that 59 percent of respondents said they believed that
they had a moderate to significantly higher risk for breast cancer than other
women their age.
Have you made any lifestyle changes that you feel will help lower your risk
for breast cancer?
Fifty-five percent said they had made healthy lifestyle changes since their
genetic counseling. Thirty-seven percent said they already had made such changes
at the time of their counseling. Only 8 percent said they had made no changes.
Have you experienced a negative psychological impact from your assessment?
One patient reported that she had experienced mild transitory depression.
Two said they had had some difficulty with family members after informing them
that gene testing had been performed and that a mutation was found. These results
suggest that the negative psychological impact of gene testing is likely to
be minimal.
The survey results stress the importance of making the genetic assessment team
multidisciplinary. Such teams should include:
- An oncology counselor to provide individual and family counseling
regarding the psychological impact of risk assessment and/or gene testing
and the diagnosis and treatment of cancer
- An oncology nurse educator to provide any additional information
the patient might need regarding the prevention, diagnosis, and treatment
of cancer
- A breast cancer coordinator to provide patients with clarification
of their cancer diagnoses, treatments, and reconstruction and prevention options,
and to instruct them concerning optimal breast self-exam techniques
It is critical that the team communicate clearly with the patient's primary
care physician, so that he or she can help counsel the patient.
The fact that few HCS patients report negative psychological consequences may
be a result of our format, which involves risk analysis, in-depth informed consent
counseling prior to testing, and post-test counseling sessions.
In fact, 92 percent of our survey's respondents said they had positive consequences
from their evaluation. Respondents said they felt relief and a certain measure
of empowerment as a result of:
- Coming to a better understanding of the biology of cancer occurrence and
development
- Having their risk of breast cancer clearly assessed and coming to understand
the factors that contribute to an increased risk
- Understanding the screening and prevention options available and the risks,
benefits, and limitations pertaining to these options
- Understanding how their particular family histories do or do not indicate
an increase in the risk of breast cancer for other family members
None of the respondents reported negative consequences regarding discrimination
by health or disability insurance carriers or by their employers.
The Road Ahead
It is increasingly obvious that genetics is the future of medicine. The leaders
of Penrose Cancer Center and its parent organization, Penrose-St. Francis Health
Services, are determined to bring high-quality genetic medicine to southern
Colorado. Penrose representatives serve on the Genetics Advisory Committee of
Catholic Health Initiatives (CHI), advising system leaders on how best to expand
services to rural CHI facilities and offering guidance to other CHI cancer treatment
facilities. Meanwhile, Penrose leaders are working to increase referrals for
people at risk for colon cancer and to develop funding sources to support this
and other program objectives.
The growth and acceptance of Penrose and the HCS indicate that genetic counseling
and testing should be an integral part of a comprehensive oncology program in
community hospitals. Bringing genomics to the community increases the quality
of care and advances the hospital's mission.
NOTES
- D. Ford, D. F. Easton, M. Stratton, et al., "Genetic Heterogeneity
and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families,"
American Journal of Human Genetics, vol. 62, no. 3, March 1998, pp.
676-689.
- B. L. Weber, C. Punzalan, A. Eisen, et al., "Ovarian Cancer Risk Reduction
after Bilateral Prophylactic Oophorectomy (BPO) in BRCA1 and BRCA2 Mutation
Carriers," American Journal of Human Genetics, vol. 67, supplement
2, July 2000, pp. 59-66.
- L. C. Hartmann, D. Schaid, T. Sellers, et al., "Efficacy of Bilateral
Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers," Journal
of the National Cancer Institute, vol. 93, no. 21, November 7, 2001, pp.
1,633-1,637.
- See H. J. R. Bussey, Familial Polyposis Coli: Family Studies, Histopathology,
Differential Diagnosis, and Results of Treatment, Johns Hopkins University
Press, Baltimore, 1975.
- Penrose Cancer Center registry, colorectal statistics, 1996-2001.