Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians

Abstract

Background: Clinically relevant genetics knowledge is essential for appropriate assessment and management of inherited cancer risk, and for effective communication with patients. This national physician survey assessed knowledge regarding basic cancer genetics concepts early in the process of introduction of predictive genetic testing for breast/ovarian and hereditary non-polyposis colorectal cancer (HNPCC) syndromes. Methods: A stratified random sample was selected from the American Medical Association Masterfile of all licensed physicians. In total, 1251 physicians (820 in primary care, 431 in selected subspecialties) responded to a 15 minute questionnaire (response rate 71%) in 1999-2000. Multivariate logistic regression analyses were conducted to identify demographic and practice characteristics associated with accurate response to three knowledge questions. Results: Of the study population, 37.5% was aware of paternal inheritance of BRCA1/2 mutations, and 33.8% recognised that these mutations occur in ,10% of breast cancer patients. Only 13.1% accurately identified HNPCC gene penetrance as >50%. Obstetrics/gynaecology physicians, oncologists, and general surgeons were significantly more likely than general and family practitioners to respond accurately to the breast/ovarian questions, as were gastroenterologists to the HNPCC question. Conclusions: These nationally representative data indicate limited physician knowledge about key cancer genetics concepts in 1999-2000, particularly among general primary care physicians. Specialists were more knowledgeable about syndromes they might treat or refer elsewhere. Recent dissemination of practice guidelines and continued expansion of relevant clinical literature may enhance knowledge over time. In addition to educational efforts to assist physicians with the growing knowledge base, more research is needed to characterise the organisational changes required within the healthcare system to provide effective cancer genetics services.

Genomic Risk Profiling: Attitudes and Use in Personal and Clinical Care of Primary Care Physicians Who Offer Risk Profiling

“…In that survey, respondents who had received genetics training in medical school were almost twice as likely to have ever ordered a genetic test compared to those without such training (OR 1.80, 95% CI: 1.34 -2.43; p= 0.001). Several studies have reported limited physician knowledge of genetics, albeit higher in younger physicians and in disciplines more closely affiliated with genetics, namely pediatrics and obstetrics/gynecology 12,15,16 . Similarly, we found that time since graduation is linked to perceived inadequacy of genetics training, and perceived knowledge is linked to test ordering behaviors 21 .…”

“…Given physicians' limited knowledge of genetics and genetic testing [12][13][14][15][16] , prior to using the test physicians completed four online educational modules on genomic risk profiling developed by Navigenics. The modules provide an overview of the science underlying testing (genome-wide association studies), and the application of test results in preventive care 18 .…”

“…Recent data cast doubt on the utility and/or added value of genetic testing [5][6][7][8][9][10][11] . Furthermore, many primary care physicians (PCPs) have limited knowledge of genetic testing or how to translate test results into clinically relevant information [12][13][14][15][16] .…”

Familial testicular cancer: Interest in genetic testing among high-risk family members

“…18,[73][74][75] Much of this genetic information has evolved over the past decade, and is unfamiliar even to physicians whose specialty interests regularly bring them into contact with patients in need of this advice. 76 This speaks to a need for continuing education for non-genetics health care providers, and for active collaborations and referrals between providers and genetics professionals.…”

A systematic review of factors that act as barriers to patient referral to genetic services

“…[37][38][39][40][41][42][43][44][45][46] Researchers investigating HCPs' genetic competence, practice and/ or behaviour, have mainly collected data via surveys and questionnaires where HCPs self-report information. 27,37,[43][44][45][46][47][48][49][50][51] There are limitations in these types of studies regarding the validity of the data obtained in terms of how much they reflect the actual situation. Van Riel et al 27 explored the knowledge and attitudes of medical specialists on BRCA testing and their referral pattern to genetic services through questionnaires, suggesting a substantial proportion of patients at risk of hereditary breast cancer were not being referred.…”