Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling and Testing Guidelines

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Clinical Guidelines, Standards and Quality of Care

American College of Medical Genetics Foundation
With support from:
New York State Department of Health

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.

These Guidelines were produced at a series of meetings during 1997 and 1998; final edits were made in June 1998.

This is the Table of Contents from a complete version. 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.

Table of Contents

Purpose

Guidelines, Algorithm and Questionnaire

Executive Summary

Guidelines Justification

Statement of the Problem

Status of Scientific Knowledge

BRCA1
BRCA2
Frequency in Special Populations
Mutation detection
Other loci

Benefits and Burdens of Mutation Detection

Benefits of detecting a mutation
Burdens of detecting a mutation
Consequences of not detecting a mutation
Burdens of detecting a variant of unknown significance

Recommended Protocol

Risk factor identification
Criteria for offering testing
Genetic counseling
Pre-test education
Process of informed choice
Testing
Communication of results and post-test counseling

Alternatives to Mutation Detection

Importance of Continued Research and Proficiency Testing

Disclaimer

References

Signatories

Represented Societies

Biosketches

Appendices: Appendices I through VIII were written by individual members of the Guideline Development Team, each selected for his or her recognized expertise in a specific area. As such, the content of each Appendix represents the opinions of the author only and does not necessarily reflect the opinion of the entire group. Most of these Appendices were completed and reviewed by October 1997 and are referenced accordingly.