Excerpt

The Guidelines have been prepared to help the primary care provider to participate in the pre- and post-test education and counseling required for every patient contemplating genetic testing for breast and ovarian cancer. Although some important genetic, epidemiological, and clinical issues remain unresolved, it is essential that all health care providers understand the familial basis of some cancers and the potential applications of genetic testing as part of the risk assessment process. The Guidelines do not comment on who should provide the counseling, nor try to demarcate where risk assessment leaves off and genetic counseling begins. It is hoped that the enhanced collaborative relationships encouraged in the Guidelines will improve quality of care provided to all patients.

Contents

• Breast and Ovarian Cancer Clinical Guidelines - Purpose
• Genetic Susceptibility to Breast and Ovarian Cancer - Guidelines, Algorithm and Questionnaire
  • Risk Assessment
  • Risk Assessment And Genetic Counseling
  • Testing
  • Post-Test Counseling
• C. EXECUTIVE SUMMARY
  • RISK ASSESSMENT
  • EDUCATION AND GENETIC COUNSELING
  • INTERVENTION LIMITATIONS
  • ALTERNATIVES TO TESTING
  • BRCA1 AND BRCA2 DNA TESTING
  • POST-TEST EDUCATION
• D. GUIDELINES JUSTIFICATION
  • 1 STATEMENT OF THE PROBLEM
  • 2 STATUS OF SCIENTIFIC KNOWLEDGE
  • 3 BENEFITS AND BURDENS OF MUTATION DETECTION
  • 4 RECOMMENDED PROTOCOL
  • 5 ALTERNATIVES TO MUTATION DETECTION
  • 6 IMPORTANCE OF CONTINUED RESEARCH AND PROFICIENCY TESTING
  • 7 DISCLAIMER
• E. REFERENCES
• F. SIGNATORIES
  • Guidelines Development Team
  • Guidelines Dissemination Team
  • Guidelines Evaluation Team
  • American College of Medical Genetics Professional Practice and Guidelines Committee
  • Consultants
• G. REPRESENTED SOCIETIES
  • The Alliance of Genetic Support Groups
  • The American Academy of Family Physicians
  • American Cancer Society
  • American College of Medical Genetics
  • American College of Medical Genetics Foundation
  • American College of Obstetricians and Gynecologists
  • American College of Physicians
  • American College of Radiology
  • American College of Surgeons
  • American Jewish Congress
  • Biotechnology Industry Organization
  • Council of Regional Networks for Genetic Services
  • Healthcare Association of New York State
  • The HMO Group
  • International Society of Nurses in Genetics
  • Medical Society of the State of New York
  • National Alliance of Breast Cancer Organizations
  • National Society of Genetic Counselors
  • New York State Public Health Association
  • New York State Society of Internal Medicine
  • The New York State Task Force on Life and the Law
  • Upstate New York Society of Medical Oncology and Hematology
• H. BIOSKETCHES
• Appendices
  • APPENDIX I BREAST CANCER PREVENTION: TAMOXIFEN AND DIETARY CONSIDERATIONS
  • APPENDIX II PROPHYLACTIC MASTECTOMY
  • APPENDIX III RISK MEASUREMENT & ASSESSMENT: BREAST AND OVARIAN CANCER
  • APPENDIX IV PSYCHOLOGICAL IMPACT OF MUTATION TESTING
  • APPENDIX V IMPACT AND EFFECTIVENESS OF MAMMOGRAPHY SCREENING FOR BREAST CANCER AND PELVIC ULTRASONOGRAPHY FOR OVARIAN CANCER
  • APPENDIX VI COMMUNICATING NEGATIVE RESULTS
  • APPENDIX VII OVARIAN CANCER SCREENING
  • APPENDIX VIII PROPHYLACTIC OOPHORECTOMY
  • Appendix IX NYS Specialists in Cancer Genetics Risk Assessment and Genetic Counseling
  • Appendix X State Genetics Coordinators
  • APPENDIX XI Sample Cancer Family History Questionnaire
  • APPENDIX XII BIBLIOGRAPHY OF MATERIALS FOR PATIENTS AND PROVIDERS
  • APPENDIX XIII GENETIC TESTING LABORATORIES APPROVED TO PROVIDE DNA-BASED ANALYSIS FOR GENETIC/CANCER PREDISPOSITION TESTING FOR SPECIMENS ORIGINATING IN NYS
  • APPENDIX XIV LEGISLATIVE ACTIONS

These Guidelines were published in 1999 by the American College of Medical Genetics under the auspices of a grant from the New York State Department of Health to the American College of Medical Genetics Foundation.

The American College of Medical Genetics has a web site at: http://www.faseb.org/genetics/acmg/.

For further information about health rules, regulations and public health law in New York State, please consult the Department's web site at: http://www.health.state.ny.us/events/index.htm.

These Guidelines are designed primarily as an educational resource for health care providers to help them provide quality care for patients with a personal and/or family history of breast or ovarian cancer. Adherence to these Guidelines is completely voluntary and does not necessarily assure a successful outcome. The Guidelines should not be considered inclusive of all proven treatments, procedures, and tests that are reasonably expected to obtain the same results. In determining the propriety of any specific treatment, procedure, or test, each physician should apply his or her own professional judgement to the specific circumstances presented by the individual patient.

Physicians are encouraged to document the reasons for the choice of a particular treatment, procedure, or test, whether or not it conforms to these Guidelines. They also are advised to consider other medical and scientific information that becomes available after the adoption of these Guidelines. Contact a cancer genetics specialist or the National Cancer Institute at 1-800-4CANCER for updated information.

Those who wish to obtain the full document including the Guidelines Justification, Appendices, and References should contact the New York State Genetic Services Program at 518-474-1222. Repetition of tables, figures and some wording in this document is intentional so that individual sections can stand alone. The full document is available from the New York State Department of Health site on the internet: http://www.health.state.ny.us.