Development and evaluation of a novel educational program for providers on the use of polygenic risk scores

Genetics in Medicine(2023)

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摘要
Background Polygenic risk scores (PRS) for breast and ovarian cancer risk are increasingly available to the public through clinical research and commercial genetic testing companies. Healthcare providers frequently report limited knowledge and confidence using PRS, representing a significant barrier to evaluation and uptake of this technology. We aimed to develop and evaluate the impact of a novel online educational program on genetic healthcare providers (GHP) attitudes, confidence and knowledge using PRS for breast and ovarian cancer risk. Methods The educational program was informed by adult learning theory and the Kolb experiential learning model. The program was comprised of two phases: i) an online module covering the theoretical aspects of PRS and ii) a facilitated virtual workshop with pre-recorded role plays and case discussions. A pre-and post-education survey was administered to evaluate the impact of the educational program on GHP attitudes, confidence, knowledge, and preparedness for using PRS. Eligible participants were GHP working in one of 12 familial cancer in Australia registered to recruit patients for a breast and ovarian cancer PRS clinical trial and completed the education program. Results 124 GHP completed the PRS education, of whom 80 (64%) and 67 (41%) completed the pre- and post-evaluation survey, respectively. Pre-education, GHP reported limited experience, confidence and preparedness using PRS. GHP frequently recognized potential benefits to PRS, most commonly that this information could improve access to tailored screening (rated as beneficial/very beneficial by 92% of GHP pre-education). Completion of the education program was associated with significantly improved attitudes (p=<0.001), confidence (p=<0.001), knowledge of (p=<0.001) and preparedness (p=<0.001) using PRS. Most GHP indicated the education program entirely met their learning needs (73%) and felt the content was entirely relevant to their clinical practice (88%). GHP identified further PRS implementation issues including limited funding models, diversity issues, need for clinical guidelines and ongoing updates given the rapid pace of PRS research. Conclusions Delivery of a novel education program can improve GHP attitudes, confidence, knowledge, and preparedness using PRS. Careful consideration of healthcare providers’ learning needs is required to support PRS research and clinical translation. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement The PRiMo trial is funded by a grant from the National Breast Cancer Foundation XXXX. TY is funded by an NHMRC EL1 Investigator Grant (APP 2009136). AML is currently supported by a University of Queensland Faculty of Medicine Fellowship. ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: This study was approved by the University of Queensland Human Research Ethics Committee (2021/HE001244). Participation in this study was voluntary and informed consent was implied by completion of the anonymous online survey. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes The anonymized survey data collected and analysed in this study are available from the corresponding author on reasonable request. * PV/LPV : pathogenic/likely pathogenic variants SNPs : single nucleotide polymorphisms PRS : polygenic risk score PRiMo : Using Polygenic Risk Modification to Improve Breast Cancer Prevention
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