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Cancer Risk Assessment and Counseling


    The need for advanced professional training in cancer genetics for genetics counselors, physicians, nurses, laboratory technicians, and others has been widely reported.[27,28,29,30,31] Despite these identified needs, the evidence indicates that competency in genetics and genomics remains limited across all health care disciplines with the exception of genetic specialists.[32] Knowledge deficits in hereditary cancer syndromes and concerns about genetic discrimination influence provider referral patterns for genetic counseling. Results of a survey of 1,600 providers in California showed that a majority were unable to identify cases appropriate for referral and were unaware of existing federal and state protective laws.[33] In a single-institution study, a retrospective chart review was conducted over a 10-year period to determine the genetic counseling referral rate for patients with ovarian, fallopian tube, or primary peritoneal cancers who were also at high risk of BRCA1/BRCA2 mutations. Results showed that referral rates increased from 12% in 1997 to 48% in 2007; however, the latter referral rate was deemed suboptimal because the majority of at-risk patients had not been referred for counseling.[34]

    The National Coalition for Health Professional Education in Genetics (NCHPEG) was established in 1996 to enhance the level of general professional education about genetics. NCHPEG has published and updated core competencies for all health professionals. Building on this work, individual health professions, such as nursing and physician assistants, have developed and published core competencies specific to their profession.[35,36] A number of other organizations have also published professional guidelines, scopes, and standards of practice.[37,38,39,40,41,42]

    Traditionally, genetic counseling services have been delivered using individualized in-person appointments. However, other methodologies are being explored, including group sessions, telephone counseling, and telemedicine by videoconferencing.[43,44,45,46,47,48,49] Additionally, computer programs designed to provide genetics education can be successful adjuncts to personal genetic counseling services in a computer-literate population.[50,51,52,53]

    Some studies of patient satisfaction with cancer genetic counseling services have been published. For example, one survey of individuals who participated in a cancer genetics program in its inaugural year reported that the clinical services met the needs and expectations of most people.[54] Patients reported that the best parts of the experience were simply having a chance to talk to someone about cancer concerns, having personalized summary letters and family pedigrees, learning that cancer risk was lower than expected, or realizing that one had been justified in suspecting the inheritance of cancer in one's family.


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