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Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.

ABSTRACT: INTRODUCTION:Genome sequencing, a novel genetic diagnostic technology that analyses the billions of base pairs of DNA, promises to optimise healthcare through personalised diagnosis and treatment. However, implementation of genome sequencing faces challenges including the lack of consensus on disclosure of incidental results, gene changes unrelated to the disease under investigation, but of potential clinical significance to the patient and their provider. Current recommendations encourage clinicians to return medically actionable incidental results and stress the importance of education and informed consent. Given the shortage of genetics professionals and genomics expertise among healthcare providers, decision aids (DAs) can help fill a critical gap in the clinical delivery of genome sequencing. We aim to assess the effectiveness of an interactive DA developed for selection of incidental results. METHODS AND ANALYSIS:We will compare the DA in combination with a brief Q&A session with a genetic counsellor to genetic counselling alone in a mixed-methods randomised controlled trial. Patients who received negative standard cancer genetic results for their personal and family history of cancer and are thus eligible for sequencing will be recruited from cancer genetics clinics in Toronto. Our primary outcome is decisional conflict. Secondary outcomes are knowledge, satisfaction, preparation for decision-making, anxiety and length of session with the genetic counsellor. A subset of participants will complete a qualitative interview about preferences for incidental results. ETHICS AND DISSEMINATION:This study has been approved by research ethics boards of St. Michael's Hospital, Mount Sinai Hospital and Sunnybrook Health Sciences Centre. This research poses no significant risk to participants. This study evaluates the effectiveness of a novel patient-centred tool to support clinical delivery of incidental results. Results will be shared through national and international conferences, and at a stakeholder workshop to develop a consensus statement to optimise implementation of the DA in practice. TRIAL REGISTRATION NUMBER:NCT03244202; Pre-results.

SUBMITTER: Shickh S

PROVIDER: S-EPMC5922516 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.

Shickh Salma S Clausen Marc M Mighton Chloe C Casalino Selina S Joshi Esha E Glogowski Emily E Schrader Kasmintan A KA Scheer Adena A Elser Christine C Panchal Seema S Eisen Andrea A Graham Tracy T Aronson Melyssa M Semotiuk Kara M KM Winter-Paquette Laura L Evans Michael M Lerner-Ellis Jordan J Carroll June C JC Hamilton Jada G JG Offit Kenneth K Robson Mark M Thorpe Kevin E KE Laupacis Andreas A Bombard Yvonne Y

BMJ open 20180426 4

<h4>Introduction</h4>Genome sequencing, a novel genetic diagnostic technology that analyses the billions of base pairs of DNA, promises to optimise healthcare through personalised diagnosis and treatment. However, implementation of genome sequencing faces challenges including the lack of consensus on disclosure of incidental results, gene changes unrelated to the disease under investigation, but of potential clinical significance to the patient and their provider. Current recommendations encoura ...[more]

PMID: 29700101

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Project description:INTRODUCTION:Genomic sequencing has rapidly transitioned into clinical practice, improving diagnosis and treatment options for patients with hereditary disorders. However, large-scale implementation of genomic sequencing faces challenges, especially with regard to the return of incidental results, which refer to genetic variants uncovered during testing that are unrelated to the primary disease under investigation, but of potential clinical significance. High-quality evidence evaluating health outcomes and costs of receiving incidental results is critical for the adoption of genomic sequencing into clinical care and to understand the unintended consequences of adoption of genomic sequencing. We aim to evaluate the health outcomes and costs of receiving incidental results for patients undergoing genomic sequencing. METHODS AND ANALYSIS:We will compare health outcomes and costs of receiving, versus not receiving, incidental results for adult patients with cancer undergoing genomic sequencing in a mixed-methods randomised controlled trial. Two hundred and sixty patients who have previously undergone first or second-tier genetic testing for cancer and received uninformative results will be recruited from familial cancer clinics in Toronto, Ontario. Participants in both arms will receive cancer-related results. Participants in the intervention arm have the option to receive incidental results. Our primary outcome is psychological distress at 2 weeks following return of results. Secondary outcomes include behavioural consequences, clinical and personal utility assessed over the 12 months after results are returned and health service use and costs at 12 months and 5 years. A subset of participants and providers will complete qualitative interviews about utility of incidental results. ETHICS AND DISSEMINATION:This study has been approved by Clinical Trials Ontario Streamlined Research Ethics Review System that provides ethical review and oversight for multiple sites participating in the same clinical trial in Ontario.Results from the trial will be shared through stakeholder workshops, national and international conferences, and peer-reviewed journals. TRIAL REGISTRATION NUMBER:NCT03597165.

Project description:BackgroundMobile health tools can support shared decision-making. We developed a computer-based decision aid (DA) to help pregnant women and their partners make informed, value-congruent decisions regarding prenatal screening for trisomy.ObjectiveThis study aims to assess the usability and usefulness of computer-based DA among pregnant women, clinicians, and policy makers.MethodsFor this mixed methods sequential explanatory study, we planned to recruit a convenience sample of 45 pregnant women, 45 clinicians from 3 clinical sites, and 15 policy makers. Eligible women were aged >18 years and >16 weeks pregnant or had recently given birth. Eligible clinicians and policy makers were involved in prenatal care. We asked the participants to navigate a computer-based DA. We asked the women about the usefulness of the DA and their self-confidence in decision-making. We asked all participants about usability, quality, acceptability, satisfaction with the content of the DA, and collected sociodemographic data. We explored participants' reactions to the computer-based DA and solicited suggestions. Our interview guide was based on the Mobile App Rating Scale. We performed descriptive analyses of the quantitative data and thematic deductive and inductive analyses of the qualitative data for each participant category.ResultsA total of 45 pregnant women, 14 clinicians, and 8 policy makers participated. Most pregnant women were aged between 25 and 34 years (34/45, 75%) and White (42/45, 94%). Most clinicians were aged between 35 and 44 years (5/14, 36%) and women (11/14, 79%), and all were White (14/14, 100%); the largest proportion of policy makers was aged between 45 and 54 years (4/8, 50%), women (5/8, 62%), and White (8/8, 100%). The mean usefulness score for preparing for decision-making for women was 80/100 (SD 13), and the mean self-efficacy score was 88/100 (SD 11). The mean usability score was 84/100 (SD 14) for pregnant women, 77/100 (SD 14) for clinicians, and 79/100 (SD 23) for policy makers. The mean global score for quality was 80/100 (SD 9) for pregnant women, 72/100 (SD 12) for clinicians, and 80/100 (SD 9) for policy makers. Regarding acceptability, participants found the amount of information just right (52/66, 79%), balanced (58/66, 88%), useful (38/66, 58%), and sufficient (50/66, 76%). The mean satisfaction score with the content was 84/100 (SD 13) for pregnant women, 73/100 (SD 16) for clinicians, and 73/100 (SD 20) for policy makers. Participants thought the DA could be more engaging (eg, more customizable) and suggested strategies for implementation, such as incorporating it into clinical guidelines.ConclusionsPregnant women, clinicians, and policy makers found the DA usable and useful. The next steps are to incorporate user suggestions for improving engagement and implementing the computer-based DA in clinical practice.

Project description:BackgroundDecision aids can support informed choice in mammography screening, but for the German mammography screening programme no systematically evaluated decision aid exists to date. We developed a decision aid for women invited to this programme for the first time based on the criteria of the International Patient Decision Aids Standards Collaboration.ObjectiveTo determine whether a decision aid increases informed choice about mammography screening programme participation.MethodsA representative sample of 7,400 women aged 50 was drawn from registration offices in Westphalia-Lippe, Germany. Women were randomised to receive usual care (i.e., the standard information brochure sent with the programme's invitation letter) or the decision aid. Data were collected online at baseline, post-intervention, and 3 months follow-up. The primary outcome was informed choice. Secondary outcomes were the constituents of informed choice (knowledge, attitude, intention/uptake), decisional conflict, decision regret, and decision stage. Outcomes were analysed using latent structural equation models and χ2-tests.Results1,206 women participated (response rate of 16.3%). The decision aid increased informed choice. Women in the control group had lower odds to make an informed choice at post-intervention (OR 0.26, 95% CI 0.18-0.37) and at follow-up (OR 0.66, 95% CI 0.46-0.94); informed choices remained constant at 30%. This was also reflected in lower knowledge and more decisional conflict. Post-intervention, the uptake intention was higher in the control group, whereas the uptake rate at follow-up was similar. Women in the control group had a more positive attitude at follow-up than women receiving the decision aid. Decision regret and decision stage were not influenced by the intervention.ConclusionThis paper describes the first systematic evaluation of a newly developed decision aid for the German mammography screening programme in a randomised controlled trial. Our decision aid proved to be an effective tool to enhance the rate of informed choice and was made accessible to the public.Trial registrationGerman Clinical Trials Register DRKS00005176.

Project description:ObjectiveTo develop and user test a patient decision aid for people with subacromial pain syndrome that presents evidence-based information on the benefits and harms of subacromial decompression surgery and rotator cuff repair surgery.DesignMixed-methods study outlining the development of a patient decision aid.SettingWe assembled a multidisciplinary steering group, and used existing decision aids and decision science to draft the decision aid. Participants were recruited through social media (not restricted by country nor setting), local hospitals and the authors' collaboration network.ParticipantsPeople with shoulder pain and health professionals who manage people with shoulder pain.Primary and secondary outcomesWe interviewed participants to gather feedback on the decision aid, assessed useability and acceptability (using qualitative and quantitative methods) and performed iterative cycles of redrafting the decision aid and reinterviewing participants as necessary. Interview data were analysed using thematic analysis. Quantitative data were summarised descriptively.ResultsWe interviewed 26 health professionals (11 physiotherapists, 7 orthopaedic surgeons, 4 general practitioners, 3 chiropractors and 1 osteopath) and 14 people with shoulder pain. Most health professionals and people with shoulder pain rated all aspects of decision aid acceptability as adequate-to-excellent (eg, length, presentation, comprehensibility). Interviews highlighted agreement among health professionals and people with shoulder pain on most aspects of the decision aid (eg, treatment options, summary of benefits, harms and practical issues, questions to ask a health professional, graphics, formatting). However, some aspects of the decision aid elicited divergent views among health professionals (eg, causes and symptoms of shoulder pain, evidence on benefits and harms).ConclusionThis decision aid could be an acceptable and valuable tool for helping people with subacromial pain syndrome make informed treatment choices. A randomised controlled trial evaluating whether this decision aid reduces people's intentions to undergo shoulder surgery and facilitates informed treatment choices is underway.Trial registration number ACTRN12621000992808.

Project description:Background: Advance care planning (ACP) is intended to help patients and their spokespersons prepare for end-of-life decision making, yet little is known about what factors influence the extent to which spokespersons feel prepared for that role. Objective: To examine spokespersons' perceived preparedness for surrogate decision making after engaging in ACP. Design: Mixed methods experimental design with qualitative thematic analysis and data transformation (creating categorical data from rich qualitative data) of interviews collected during a randomized controlled trial (2012-2017). Setting/Participants: Two tertiary care medical centers (Hershey, PA and Boston, MA). Of 285 dyads (patients with advanced illness and their spokespersons) enrolled in the trial, 200 spokesperson interviews were purposively sampled and 198 included in the analyses. Main Outcomes and Measures: Interviews with spokespersons (four weeks post-intervention) explored spokespersons' perceived preparedness for surrogate decision making, occurrence of ACP conversations, and spokespersons' intentions regarding future surrogate decisions. Data transformation was used to categorize participants' responses into three categories: Very Prepared, Very Unprepared, or In Between Prepared and Unprepared. Themes and categories were compared across arms. Results: About 72.72% of spokespersons (144/198) reported being Very Prepared and 27.28% (54/198) reported being Very Unprepared or In Between with no differences in preparedness across study arms. Occurrence of post-intervention ACP conversations did not influence perceived preparedness; however, spokespersons who used an ACP decision aid reported more conversations. Four themes emerged to explain spokespersons' perceived preparedness: (1) perceptions about ACP; (2) level of comfort with uncertainty; (3) relational issues; and (4) personal characteristics. Regarding future intentions, it emerged that spokespersons believed their knowledge of patient wishes, as well as other personal, relational, situational, and emotional factors would influence their surrogate decisions. Conclusions: Factors extrinsic to specific ACP interventions influence how prepared spokespersons feel to act as spokespersons. Understanding these factors is important for understanding how to improve concordance between patients' stated end-of-life wishes and surrogate decisions. Trial Registration: NCT02429479.

Project description:Mixed methods are commonly used in health services research; however, data are not often integrated to explore complementarity of findings. A triangulation protocol is one approach to integrating such data. A retrospective triangulation protocol was carried out on mixed methods data collected as part of a process evaluation of a trial. The multi-country randomised controlled trial found that a web-based training in communication skills (including use of a patient booklet) and the use of a C-reactive protein (CRP) point-of-care test decreased antibiotic prescribing by general practitioners (GPs) for acute cough. The process evaluation investigated GPs' and patients' experiences of taking part in the trial.Three analysts independently compared findings across four data sets: qualitative data collected view semi-structured interviews with (1) 62 patients and (2) 66 GPs and quantitative data collected via questionnaires with (3) 2886 patients and (4) 346 GPs. Pairwise comparisons were made between data sets and were categorised as agreement, partial agreement, dissonance or silence.Three instances of dissonance occurred in 39 independent findings. GPs and patients reported different views on the use of a CRP test. GPs felt that the test was useful in convincing patients to accept a no-antibiotic decision, but patient data suggested that this was unnecessary if a full explanation was given. Whilst qualitative data indicated all patients were generally satisfied with their consultation, quantitative data indicated highest levels of satisfaction for those receiving a detailed explanation from their GP with a booklet giving advice on self-care. Both qualitative and quantitative data sets indicated higher patient enablement for those in the communication groups who had received a booklet.Use of CRP tests does not appear to engage patients or influence illness perceptions and its effect is more centred on changing clinician behaviour. Communication skills and the patient booklet were relevant and useful for all patients and associated with increased patient satisfaction. A triangulation protocol to integrate qualitative and quantitative data can reveal findings that need further interpretation and also highlight areas of dissonance that lead to a deeper insight than separate analyses.

Project description:BackgroundDiagnostic errors pose significant health risks and contribute to patient mortality. With the growing accessibility of electronic health records, machine learning models offer a promising avenue for enhancing diagnosis quality. Current research has primarily focused on a limited set of diseases with ample training data, neglecting diagnostic scenarios with limited data availability.ObjectiveThis study aims to develop an information retrieval (IR)-based framework that accommodates data sparsity to facilitate broader diagnostic decision support.MethodsWe introduced an IR-based diagnostic decision support framework called CliniqIR. It uses clinical text records, the Unified Medical Language System Metathesaurus, and 33 million PubMed abstracts to classify a broad spectrum of diagnoses independent of training data availability. CliniqIR is designed to be compatible with any IR framework. Therefore, we implemented it using both dense and sparse retrieval approaches. We compared CliniqIR's performance to that of pretrained clinical transformer models such as Clinical Bidirectional Encoder Representations from Transformers (ClinicalBERT) in supervised and zero-shot settings. Subsequently, we combined the strength of supervised fine-tuned ClinicalBERT and CliniqIR to build an ensemble framework that delivers state-of-the-art diagnostic predictions.ResultsOn a complex diagnosis data set (DC3) without any training data, CliniqIR models returned the correct diagnosis within their top 3 predictions. On the Medical Information Mart for Intensive Care III data set, CliniqIR models surpassed ClinicalBERT in predicting diagnoses with <5 training samples by an average difference in mean reciprocal rank of 0.10. In a zero-shot setting where models received no disease-specific training, CliniqIR still outperformed the pretrained transformer models with a greater mean reciprocal rank of at least 0.10. Furthermore, in most conditions, our ensemble framework surpassed the performance of its individual components, demonstrating its enhanced ability to make precise diagnostic predictions.ConclusionsOur experiments highlight the importance of IR in leveraging unstructured knowledge resources to identify infrequently encountered diagnoses. In addition, our ensemble framework benefits from combining the complementary strengths of the supervised and retrieval-based models to diagnose a broad spectrum of diseases.

Dataset Information

Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.

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Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.

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