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Hereditary cancer syndromes have a major ethical, legal and psychological impact on the individual as well as family members and the caring physician.   As a result, a careful counseling before, during and after the testing is necessary.  There are many issues that one has to bear in mind before proceeding with the genetic testing. American Society of Clinical Oncology (ASCO) has published some guidelines for Genetic Testing of cancer patients and their families.  ASCO encourages oncologists to assume the responsibility of genetics counseling with patients and their families.

ASCO Recommendation as to Informed consent:

There is a definite need for an informed consent to protect the rights of both patients and physicians.  This document shall cover the following issues:

• Information on the specific test being performed.

• Implication of a positive and negative result.

• Possibility that the test will not be informative.

• Options for risk estimation without genetic testing.

• Risk of passing a mutation to children

• Technical accuracy of the test

• Fees involved in testing and counseling

• Risks of psychological distress

• Risks of insurance or employee discrimination

• Confidentiality issues

• Options and limitations of medical surveillance and screening following testing

ASCO General recommendation as to indications for genetic testing:

• When a person has a strong family history of cancer or very early age of onset of disease

• Test can be adequately interpreted

• Result will influence medical management of the patient/family member.

ASCO Recommendation as to indications for genetic testing for Breast and Ovarian cancers:

• Family with more than two breast cancer cases and one or more cases of ovarian cancer diagnosed at any age

• Family with more than three breast cancer cases diagnosed before age 50

• Sister pairs with two of the following cancers diagnosed before age 50: two breast cancers; two ovarian cancers; or a breast and ovarian cancer.

• Relatives of individuals with breast cancer diagnosed before the age of 30

ASCO Recommendation as to indications for genetic testing for Colon and Rectal cancers:

• Colorectal carcinoma in three individuals, one of whom is the first degree relative of the other two with two generations affected and one of the cases diagnosed before age 50.

ASCO Recommendation as to Medical management after testing and counseling

• Discussion of possible risk and benefits of cancer early detection and prevention modalities, which have presumed but unproven efficacy for individuals at the highest hereditary risk for cancer.

Cancer Genetic issues