Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

Abstract

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.

Validity of Models for Predicting BRCA1 and BRCA2 Mutations

“…However, relying on model probabilities to decide about referral can cause many false-positive and false-negative referral decisions (Table 4). Decision making about genetic testing and prevention should reflect a broader range of factors, of which carrier probabilities are but one (7,8). Other factors include the effectiveness and cost of genotyping; the available means and efficacy of measures for early detection and risk reduction; the counselee's willingness to undergo enhanced surveillance or risk-reducing interventions; and the possible psychological, social, and ethical effects of testing.…”

“…When counseling a woman facing decisions about genotyping for BRCA1 and BRCA2, it is important to accurately evaluate the probability that she carries a deleterious mutation (pretest mutation probability) and the probability that a mutation will be found if she is genotyped (which depends on the accuracy of mutation testing). Reliable, evidence-based, individualized counseling strategies can enhance informed decision making, both about whether to pursue BRCA1/BRCA2 testing and what to do with the results (7)(8)(9).…”

The ethical implications of genetic testing in the classroom

“…In addition, presymptomatic testing is generally done only on high risk adults after extensive pretest education and psychosocial evaluation [27]. That being said, geneticists and genetic counselors must routinely deal with ''gray'' information and unclear results.…”

“…Genetic testing for cancer predis-position is a dynamic process and involves geneticists, genetic counselors, oncologists, surgeons, psychologists, nurses, and social workers. The National Society of Genetic Counselors has produced a series of recommendations for genetic cancer risk assessment to address the medical, psychosocial, and ethical ramifications of identifying at-risk individuals [27]. In the end, the process of cancer risk assessment requires many steps, including collecting a personal and family history, psychosocial assessment, the benefits, risks, limitations, and applicability of genetic susceptibility testing, informed consent, and options for medical management [25].…”

Das Gendiagnostikgesetz im Spannungsfeld von Humangenetik und Recht

“…Die möglicherweise medizinisch relevanten, ganz individuellen Besonderheiten der Person, auf die sie angewendet werden, können so nicht in vollem Umfang berücksichtigt werden. 8 Werden Verhaltensmuster bestimmen. In diesem Sinne wird auch die Behauptung des genetischen Determinismus zur "wahren Lüge": Obwohl sie naturwissenschaftlich falsch ist, entfaltet sie gesellschaftliche Wirkkraft.…”