Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: A global problem

Abstract

Purpose: The objective of this study was to assess knowledge of genetics and awareness of genetic tests among Dutch general practitioners (GPs), gynecologists (GYNs), and pediatricians (PEDs), as well as factors influencing their knowledge and awareness. Methods: An anonymous questionnaire inquiry was used, validated with a sample of 52 clinical geneticists (CGs). The study was carried out in primary care (general practice) and secondary care (general and university hospitals) in The Netherlands. A random sample of 200 GPs, 300 GYNs, and 265 PEDs received a questionnaire. In addition, all registered CGs (58) received a questionnaire for validation. In total, 122 GPs, 187 GYNs, 164 PEDs, and 52 CGs returned a completed questionnaire. The main outcome measures were differences in knowledge scores between physicians working in different disciplines and factors influencing these scores. Results: Knowledge scores of GPs (mean 64% correct answers, 61%-66% [95% confidence interval]), GYNs (mean 75% correct answers, 73%-76% [95% confidence interval]), and PEDs (mean 81% correct answers, 79%-82% [95% confidence interval]) were lower than those in the CG validation group (mean 95% correct answers, 94%-96% [95% confidence interval]). The 5th percentile of GPs, GYNs, and PEDs was at approximately 40%, 52% and 62% correct answers, respectively. There was a specific lack of knowledge about DNA testing. In addition to specialty, important factors positively associated with the knowledge scores of nongeneticists are more recent graduation, having taken an elective course in genetics, and providing genetic counseling in their own practice. Conclusion:The overall knowledge levels of genetics in many nongeneticist health care providers show clear deficiencies. This is in line with reports from other countries, showing that these deficiencies are a global problem.Genet Med 2005:7(9):605-610.

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] .…”

Development of a questionnaire for evaluating genetics education in general practice

“…In many countries, including Australia, GPs generally accept their role as gatekeepers to these services, yet research to date suggests that they consider their general genetics knowledge and skills limited (Emery et al 1999;Metcalfe et al 2002;Suther and Goodson 2003;Baars et al 2005). These concerns partly reflect the lag time for scientific advances to be incorporated into medical curricula and subsequently into standard medical practice where generational change is required.…”

“…While there are a number of published questionnaires used to measure the genetics-related knowledge and practice of health professionals in primary care, with a selection referenced here (Hofman et al 1993;Kolb et al 1999;Suther and Goodson 2003;Baars et al 2005;Metcalfe et al 2005;Clyman et al 2007;Carroll et al 2009), we are not aware of any that have been thoroughly validated and explicitly used to assess genetics education interventions in general practice that cover a broad range of topics. This study reports on the process of developing and validating an instrument for the purpose of evaluating genetics education for GPs and in particular an intervention based on ALT.…”