National Comprehensive Cancer Network

Tampa, Florida

Rebecca Sutphen, MD, FACMG

813.745.5739

813.745.4746

GCTS staff offers continuing medical education for community physicians and nurses. Multiple venues for professional education are used for the 15-20 programs offered per year. Topics include identification of individuals at risk for inherited cancer susceptibility, updates on cancer genetics, and genetic counseling.

Clients receive education aimed at conveying basic genetic concepts and the relationship between genes and cancer. GCTS has developed a variety of patient education materials to supplement the one-to-one counseling sessions. Copies of appropriate introductory materials are distributed to physician offices throughout the region. The HLM Web site also offers information regarding the GCTS. For more information go to www.moffitt.org and click on the Screening and Prevention link

Practitioners throughout the region and beyond may access the GCTS through the intake phone lines or through the HLM Cancer Answer Line at 800.456.7121. Nurse educators trained in the intake process for cancer genetics staff the 800 number and refer appropriate clients to the GCTS. The GCTS staff members participate in the cancer program meetings of the HLM, helping to identify appropriate patients for genetic counseling referral. A programmatic referral process through the treating HLM physician is in place for patients with a history suggestive of inherited breast cancer, ovarian cancer, colon cancer, or melanoma. Individuals throughout the region also self-refer by contacting the program.

In order to address the needs of individuals with inherited cancer susceptibility for whom genetic testing is available, the staff of the GCTS participate in Tumor Board meetings of the Breast Program, Gynecology/Oncology Program, Melanoma Program, and GI/Oncology Program. In this setting, new cases are reviewed, and individuals whose histories are suggestive of inherited cancer susceptibility are identified for referral to GCTS. In the high-risk Lifetime Cancer Screening Center (LCSC), a standardized screening tool is used to identify individuals for whom genetic counseling is appropriate.

Comprehensive risk evaluation targeted to the client's main concerns is accomplished via extensive pre-session preparation. Typically, questionnaires are mailed to clients prior to appointments to assess personal and family history. Clients are encouraged to consult family members and records in the process of filling out the information and to bring family members to the counseling sessions, if desired. Based on questionnaire information, a genetic counselor creates a computer-generated pedigree and begins the evaluation of cancer risk using appropriate empiric and analytic models, as warranted by the history. This is supplemented by any additional information acquired during the pre-test genetic counseling session. During this session, which is conducted with a board-certified/eligible genetic counselor, the client is assisted in understanding the genetic basis of cancer and the interaction of genes and other factors in cancer causation.

A wide variety of information is discussed, including:

· The client's personal risk factors and behaviors thought to affect risk

· The individual's perception of cancer risk

· Options regarding genetic testing

· Risks and benefits of testing, including psychological affects on the individual and impact on family relationships

· The possibility of discrimination in insurance or employment

· Test eligibility

· The test procedure itself

· The implications of a positive, negative, or indeterminate test result on medical decisions

· Screening or prophylactic surgery options

· Sharing the results with family members

After the pre-test genetic counseling session, each client receives a confidential letter reviewing the information and recommendations that were discussed.

All testing for cancer susceptibility genes requires both an informed consent process (achieved through the pre-test genetic counseling session) and document, which is given to the client for review at the pre-test counseling session. This document and the entire genetic counseling and testing protocol have been approved by the Institutional Review Board (IRB).

The entire GCTS is conducted through the Lifetime Cancer Screening and Prevention Center which is a separate subsidiary of the HLM, and is located off-campus. The record of each client of GCTS is maintained separately in locked files in the genetic counseling office of GCTS, separate from Lifetime and/or HLM medical record. The LCS record is used to document only insurance/billing information, which is coded by the health care provider information, and therefore indicates only that a genetic counseling session has occurred.

The GCTS also utilizes the Certificate of Confidentiality, provided by the National Institutes of Mental Health, for all study protocols utilizing genetic testing. No information about whether a genetic test has been performed or any test results are included in the computer-based medical record. Results of genetic testing or the contents of the counseling discussion are disclosed to other parties only with explicit written permission of the client.

Licensed commercial laboratories are used for most cancer gene testing at GCTS. Depending on the test, different labs have been found to be most suitable for clients' needs. HLM offers BRCA1/BRCA2, MLH1/MSH2, and p16 testing to individuals who meet specific criteria based on IRB-approved protocols. After the pre-test counseling session, the client's information is reviewed by a board-certified clinical geneticist who recommends the most appropriate testing for the client.

Cancer/Syndrome Gene

Breast and Ovarian Cancer BRCA1 & BRCA2

Familial Adenomatous Polyposis (Attenuated) APC & APC I1307K

Hereditary Nonpolyposis Colon Cancer MSH2 & MLH1

Li-Fraumeni Syndrome p53

Malignant Melanoma P16/CDK4

Multiple Endocrine Neoplasia 1 MEN1

Multiple Endocrine Neoplasia 2 & Familial Medullary
Thyroid Carcinoma RET

Neurofibromatosis 1 NF1

von Hippel-Lindau VHL

Cowden Syndrome PTEN

Only CAP/CLIA-approved laboratories are used.

All genetic test results are interpreted by a board-certified/eligible clinical geneticist in light of the client's overall health risk assessment, including personal and family history, the published literature, and database repositories of mutations (through the Internet and other resources). The risk conveyed by a specific mutation is estimated based on all the above data for each individual's case.

The results of the genetic testing and interpretation of results are communicated to the client in a face-to-face counseling session with a board-certified geneticist. The information presented includes the medical surveillance and management recommendations of the multidisciplinary review board. A summary letter is sent to the client after the session to review the information and recommendations that were presented. Arrangements are facilitated with other cancer genetics clinics for family members seeking counseling at locations outside HLM.

The multidisciplinary review board recommends evidence-based surveillance strategies and addresses periodicity of exams and imaging modalities and use of serologic markers. Screening for early detection of breast, ovarian, colon, prostate, skin, and other cancers is discussed with clients as appropriate. Syndrome-specific recommendations are issued as appropriate.

In addition to the written summary of recommendations that is provided to each client, a referral to a member of the high-risk medical oncology team is provided to clients as desired for discussion of the appropriate individualized medical management options. Follow-up care recommendations may also be issued in writing to the client's referring or other health care provider, at the client's request. These recommendations describe the cancer risk assessment and recommend alterations in lifestyle and type and frequency of screening tests. The results of genetic testing are not specifically mentioned without explicit written consent from the client. Referrals for surgical, gynecologic, dermatologic, medical oncology, and other medical services are implemented in a syndrome- and client-specific fashion.

Each client who undergoes pre-test counseling meets with a board-certified/eligible genetic counselor with experience in cancer genetics. A formal psychological screening tool is used for each client, in conjunction with the subjective assessment of the genetic counselor, to determine the need for psychological counseling (this occurs prior to any testing). If any issues of concern are identified, approval by the psychologist is required as part of the IRB-approved testing protocol, prior to proceeding with testing. Referral to the psychologist and other support personnel is available to all clients.

Several chemoprevention trials, both multi-institutional and HLM-based, are being conducted or implemented, including a trial of selenium (lung cancer), genistein (breast and prostate cancer), raloxifene (NSABP), aspirin (colorectal cancer), and topical tretinoin and oral fenretinide (cervical cancer).

Clients who agreed to participate in the familial cancer registry of Florida Cancer Genetics Network (FCGN) provide initial and follow-up data that is maintained in an encrypted database. GCTS participates in the Breast Information Core database, an internet-based, password-accessible data repository into which mutations are entered anonymously (without cross-referencing information that would allow identification of the individual or family).

The GCTS is sponsored by the HLM Cancer Center and thus is subject to its quality control procedures. The risk information, testing eligibility, and recommendations provided to each client are reviewed independently by a genetic counselor and clinical geneticist prior to being provided in writing to the client. GCTS participates in the National Society of Cancer Genetic Counselors List serve, which provides a forum for anonymous peer review and discussion of cases with regard to risk assessment and recommendations.

GCTS offers a variety of clinical training opportunities for staff of regional affiliate institutions in the identification of individuals for whom genetic counseling referral is appropriate, including Genetic Counseling student training, residency training, and medical oncology surgical fellows.