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Table 2 Educational interventions to improve physicians' genomic literacy

From: Adopting clinical genomics: a systematic review of genomic literacy among physicians in cancer care

Study, year, country Aim Methods Participants Intervention Main outcomes Limitations
Bethea et al. (2008)
United Kingdom [26]
To determine the impact of genetic outreach education and support to primary care on practitioner’s confidence and competence in dealing with familial cancers Quasi-experimental design: Longitudinal intervention study + Pre- and post- intervention knowledge survey 217 GPs and practice nurses from both rural and urban areas in England completed both pre- and post- intervention survey: 29 from intervention group, 188 from control group In 2 areas, genetic educational outreach was provided to 10 randomly selected practices comprising two sessions on familial cancer and one on other genetic conditions Respondents in the intervention group reported more confidence in dealing with issues related to management of patient queries around bowel cancer, knowing the relevant family history to collect, and making basic assessment of risk Low response in pre- and post- intervention surveys from the intervention groups
Blazer et al. (2004)
United States [22]
To determine the effects of a cancer genetics education program (CGEP) on clinical knowledge and practice Quasi-experimental design: Longitudinal intervention study + Pre- and post- intervention knowledge survey + Practice impact surveys one year after the intervention 710 clinicians participated the program and completed the pre- and post- intervention survey. 69 out of 114 eligible annual conference participants sampled completed the practice impact surveys The CGEP comprises: cancer genetics curriculum incorporating key elements published by American Society of Clinical Oncologists + six annual full day conferences covering in depth a specific topic in clinical cancer genetics Respondents showed a 40% average increase in specific cancer genetics knowledge. Respondents to the practice impact survey reported that they used course information and materials to counsel and refer patients for hereditary cancer risk assessment (77%), shared course information with other clinicians (83%), and wanted additional cancer genetics education (80%). Low response in the practice impact survey to produce convincing evidence on the long-term impact of the intervention
Blazer et al. (2011)
United States [23]
To assess the impact of a multi-modal interdisciplinary course in genetic cancer risk assessment (GCRA) and research collaboration for community-based clinicians Quasi-experimental design: Longitudinal intervention study + Pre- and post- intervention knowledge survey 131 participants (48 physicians, 41 advanced-practice nurses and 42 genetic counselors) from community settings across the U.S The course was delivered in three phases: distance didactic learning, face-to-face training and 12 months of Web-based professional development activities to support integration of skills into practice. Cancer genetics knowledge, skills, professional self-efficacy and practice changes were measured at baseline, immediate- and 14-months-post course. Knowledge, skills and self-efficacy scores were significantly different between practice disciplines; however, post scores increased significantly overall and for each discipline (p < .001). Fourteen-month practice outcomes reflect significant increases in provision of GCRA services (p = .018), dissemination of cancer prevention information (p = .005) and high-risk screening recommendations (p = .004) to patients, patient enrollment in research (p = .013), and educational outreach about GCRA (p = .003). The majority of course participants had training in oncology or genetics; consequently, generalizability of the findings and adaptability to more primary care audiences is uncertain. Addition validation is needed with a more diverse set of clinicians
Hill et al. (2015)
Multi-countries [24]
To increase childhood eye cancer retinoblastoma genetics knowledge by designing an interactive workshop for clinicians in Kenya Quasi-experimental design: Longitudinal intervention study + Pre- and post- intervention knowledge survey + One-year post-workshop knowledge test The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. Knowledge was assessed by standardized test pre- and post- the workshop, and genetic counseling skills and confidence by questionnaire. One year after the workshop, the participants were asked to take a knowledge survey again 55 physicians attended the workshop, of whom 38 granted permission for use of their tests and permission to re-test after a year. 12 participants took the one-year post-workshop survey Knowledge increased significantly post-workshop from 72% to 80%, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline (72%), indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions. Low response in the one-year post-workshop knowledge test
Houwink et al. (2014)
Netherlands [28]
To examine sustained effects of online genetics education Randomized controlled trial: a parallel-group, pre- and post-retention (6-month follow up) controlled group intervention trial was conducted, with repeated measurements using validated questionnaires 80 Dutch GPs responded to participate in the study. Two groups of 40 participants were estimated to be sufficient to detect a medium-to-large effect with a power of 90% and a significance level of 5%. Eighty Dutch GP volunteers were randomly assigned to the intervention or the control group. 24 from intervention group and 20 from control group completed the study 2-h online genetics education course: Genetics e-learning Continuing Professional Development (CPD) module, aiming at improving general practitioners’ (GPs’) knowledge about oncogenetics, Randomized controlled trial was also conducted to evaluate the outcomes at the first two levels of the Kirkpatrick framework (satisfaction, learning and behavior). Satisfaction with the module was high, with the three item’s scores in the range 4.1–4.3 (5-point scale) and a global score of 7.9 (10-point scale). Knowledge gains post test and at retention test were 0.055 (P < 0.05) and 0.079 (P < 0.01), respectively, with moderate effect sizes (0.27 and 0.31, respectively). The participants appreciated applicability in daily practice of knowledge aspects (item scores 3.3–3.8, five-point scale), but scores on self-reported identification of disease, referral to a specialist and knowledge about the possibilities/limitations of genetic testing were near neutral (2.7–2.8, five-point scale). Small sample size due to large attrition rate
Houwink et al. (2014)
To assess the effectiveness of oncogenetics training in general practitioners’ consultation skills Blinded, randomized controlled trial (RCT) with parallel repeated measurements of intervention (received education) and control group, pre- and post-retention, with another 3-month follow up. 56 randomized Dutch GPs (38 intervention, 18 control group) completed the entire procedure, and 32 were lost to follow-up due to lack of time or sickness 4-h face-to-face training covering oncogenetic consultation skills Key consultation skills significantly and substantially improved; regression coefficients after intervention were equivalent to 0.34 and 0.28 at 3-month follow-up, indicating a moderate effect size. Satisfaction and perceived applicability of newly learned skills were highly scored. High number of non-responders, high attrition rates, especially in control group
Houwink et al. (2015)
Netherlands [25]
To build effective educational modules on oncogenetics, in order to assess long-term increase in genetic consultation skills (1-year-follow-up) and interest in and satisfaction with a supportive website on genetics among GPs Mixed-methods: Online questionnaire (effects of online and live training) + the pop-up questionnaire (appreciation of the website) + referral rates by GPs from the clinical genetics centres in the northern and southern parts of the Netherlands + website visitor analytics Assessment 1. 168 GPs responded to an email invitation and were randomly assigned to an intervention or control group, evaluating the G-eCPD module (n = 80) or the live module (n = 88).
Assessment 3: 38 website visitors completed the online questionnaire
Three oncogenetics modules were developed: an online Continuing Professional Development (G-eCPD) module, a live genetic CPD module, and a “GP and genetics” website ( providing further genetics information applicable in daily practice. Three assessments to evaluate the effectiveness (1-year follow-up) of the oncogenetic modules were designed: 1.An online questionnaire on self-reported genetic competencies and changes in referral behaviour, 2. Referral rates from GPs to clinical genetics centres and 3.Satisfaction questionnaire and visitor count analytics of supportive genetics website. Participants of these online and live training reported being more aware of genetic problems long term; this was reported by 29 GPs (69%) and 46 GPs (92%) participating in the G-eCPD and live module evaluation studies, respectively (Chisquare test, p < 0.005). One year later, 68% of the respondents attending the live training reported that they more frequently referred patients to the clinical genetics centres, compared to 29% of those who attended the online oncogenetics training However, the clinical genetics centres reported no significant change in referral numbers one year after the training. Website visitor numbers increased, as did satisfaction, reflected in a 7.7 and 8.1 (out of 10) global rating of the website (by G-eCPD and live module participants, respectively). Long-term genetic consultation skills was self-reported
Low number of respondents participated in the online questionnaire and the pop up questionnaire
Wilson et al. (2006)
United Kingdom [30]
To evaluate the effectiveness of the intervention in improving GP confidence in managing patients concerned about genetic risk of breast cancer. Cluster randomized controlled trial: multifaceted decision-supported intervention with intervention and control group, pre- and post- intervention questionnaires to both groups All eligible practices (n = 86) were randomized, 57 (230 GPs) to the intervention group and 29 (116 GPs) to the control group. The total number of intervention and control GPs changed over the course of the trial because of natural turnover. Practices. Multifaceted system which (i) built on a national IT initiative to assist GPs in interpreting and applying the new national guidelines for cancer genetics, including an explanation of the rationale underlying the risk stratification; (ii) contained elements to facilitate its use in general practice (e.g. information leaflets, contact email link); and (iii) complementary educational sessions which aimed to provide insight and skills training relating to breast cancer genetics. No statistically significant differences were observed between intervention and control arms in the primary or secondary outcomes. A possible effect of the intervention on the proportion of referred patients who were at elevated risk could not be discounted. Only a small proportion of intervention GPs attended the educational session, were aware or the software, or made use of it in practice. Small sample size, low statistical power
Confidence in managing patient was self-reported measure
Westwood et al. (2012)
United Kingdom [29]
To examine whether primary care genetic-led genetics education improves both non-cancer and cancer referral rates, and primary care-led genetics clinics improve the patient pathway. Cluster-randomized factorial trial: educational intervention to receive case scenario based seminar (intervention) or not (control), and clinic location intervention includes referred patients a primary (intervention) or secondary (control)care genetic counsellor (GC)led appointment. 73 general practices in the south of England A seminar was designed to include four case scenarios (cystic fibrosis, Huntington’s disease, breast cancer, and a child with dysmorphic features referred for diagnosis); referral access details; and the local and national cancer family history referral guidelines (breast, breast, and ovarian, ovarian, colorectal, and colorectal with other sites). An NHS intranet secure
website, with access to cancer referral guidelines and a referral form, was developed.
Eighty-nine and 68 referrals made by 36 intervention and 37 control practices respectively. There was a trend towards an overall higher referral rate among educated GPs (referral rate ratio [RRR] 1.34) and they made more appropriate cancer referrals (RRR 2.36).
83% of GC-managed appointments met the 18-week referral to treatment, NHS target.
Inadequate sample size to demonstrate anything other than very large changes in clinic attendance rates, and in particular not adequate to demonstrate narrow equivalence limits.