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Cancer Genetics Risk Assessment and Counseling (PDQ®): Genetics - Health Professional Information [NCI] - 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. A study of 1,181 California physicians and nurse practitioners examined knowledge gaps and perceptions about cancer genetic testing, genetic discrimination, and genetic nondiscrimination laws. Factors associated with having referred patients for cancer genetic counseling included having a more positive attitude toward genetic testing and a greater knowledge of nondiscrimination laws. Respondents who believed that genetic discrimination exists with regard to health insurance, and those who saw a higher number of underserved patients in their practice, were less likely to have referred patients for cancer genetic counseling.[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 and Web sites designed to provide genetics education can be successful adjuncts to personal genetic counseling services in a computer-literate population.[50,51,52,53,54]

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