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Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.

ABSTRACT: Introduction:Obtaining informed consent from study participants and disseminating the findings responsibly is a key principle required for ethically conducted clinical and genetic research. Reports from African researchers providing feedback on insights gained during the return of whole exome sequencing (WES) results to breast cancer patients treated in resource-limited settings is lacking. Aim:The empirical process used to fill this gap in relation to BRCA1/2 variant detection using WES provided unique insights incorporated into a pathology-supported genetic testing algorithm for return of research results to Kenyan breast cancer patients. Methods:The Informed consent form approved by the Moi Teaching and Referral Hospital in Kenya was adopted from a translational research study conducted in South Africa. Initially, the informed consent process was piloted in 16 Kenyan female patients referred for breast surgery, following a community-based awareness campaign. A total of 95 female and two male breast cancer patients were enrolled in the study from 2013 to 2016. Immunohistochemistry (IHC) results of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER2) status were obtained from hospital records. DNA of patients with a family history of cancer was extracted from saliva and screened for pathogenic variants in the BRCA1/2 genes as the first step using WES. Results:Ten patients approached for participation in this study declined to sign the informed consent form. Data on IHC used as a proxy for molecular subtype were available in 8 of 13 breast cancer patients (62%) with a family history of cancer. Five BRCA1/2 variants of uncertain clinical significance were detected, as well as a pathogenic BRCA2 variant (c.5159C > A; S1720?) in a female patient eligible for return of WES results. Conclusion:Experience gained during the qualitative pilot phase was essential to overcome challenges associated with the translation of sophisticated genetic terms into native African languages. Detection of a pathogenic BRCA2 variant in a patient with familial breast cancer, frequently associated with hormone receptor-positive breast carcinoma as reported in this case, led to a high level of confidence on which to base risk management in future. Implementation of new technologies alongside standard pathology provides a practical approach to the application of genomic medicine in Africa.

SUBMITTER: Torrorey-Sawe R

PROVIDER: S-EPMC7089032 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.

Torrorey-Sawe Rispah R van der Merwe Nicole N Mining Simeon Kipkoech SK Kotze Maritha J MJ

Frontiers in genetics 20200306

<h4>Introduction</h4>Obtaining informed consent from study participants and disseminating the findings responsibly is a key principle required for ethically conducted clinical and genetic research. Reports from African researchers providing feedback on insights gained during the return of whole exome sequencing (WES) results to breast cancer patients treated in resource-limited settings is lacking.<h4>Aim</h4>The empirical process used to fill this gap in relation to <i>BRCA1/2</i> variant detec ...[more]

PMID: 32231682

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Project description:The ethical recruitment of participants with neurological disorders in clinical research requires obtaining initial and ongoing informed consent. The purpose of this study is to characterize barriers faced by research personnel in obtaining informed consent from research participants with neurological disorders and to identify strategies applied by researchers to overcome those barriers. This study was designed as a web-based survey of US researchers with an optional follow-up interview. A subset of participants who completed the survey were selected using a stratified purposeful sampling strategy and invited to participate in an in-depth qualitative interview by phone or video conference. Data were analyzed using a mixed methods approach, including content analysis of survey responses and thematic analysis of interview responses. Over 1 year, 113 survey responses were received from US research personnel directly involved in obtaining informed consent from participants in neurological research. Frequently identified barriers to informed consent included: cognitive and communication impairments (e.g. aphasia), unrealistic expectations of research participants, mistrust of medical research, time constraints, literacy barriers, lack of available social support, and practical or resource-related constraints. Strategies to enhance informed consent included: involving close others to support participant understanding of study-related information, collaborating with more experienced research personnel to facilitate training in obtaining informed consent, encouraging participants to review consent forms in advance of consent discussions, and using printed materials and visual references. Beyond conveying study-related information, researchers included in this study endorsed ethical responsibilities to support deliberation necessary to informed consent in the context of misconceptions about research, unrealistic expectations, limited understanding, mistrust, and/or pressure from close others. Findings highlight the importance of training researchers involved in obtaining informed consent in neurological research to address disease-specific challenges and to support the decision-making processes of potential research participants and their close others.

Project description:BackgroundInformed consent is one of the key elements in biomedical research. The introduction of electronic informed consent can be a way to overcome many challenges related to paper-based informed consent; however, its novel opportunities remain largely unfulfilled due to several barriers.ObjectiveWe aimed to provide an overview of the ethical, legal, regulatory, and user interface perspectives of multiple stakeholder groups in order to assist responsible implementation of electronic informed consent in biomedical research.MethodsWe conducted a systematic literature search using Web of Science (Core collection), PubMed, EMBASE, ACM Digital Library, and PsycARTICLES. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were used for reporting this work. We included empirical full-text studies focusing on the concept of electronic informed consent in biomedical research covering the ethical, legal, regulatory, and user interface domains. Studies written in English and published from January 2010 onward were selected. We explored perspectives of different stakeholder groups, in particular researchers, research participants, health authorities, and ethics committees. We critically appraised literature included in the systematic review using the Newcastle-Ottawa scale for cohort and cross-sectional studies, Critical Appraisal Skills Programme for qualitative studies, Mixed Methods Appraisal Tool for mixed methods studies, and Jadad tool for randomized controlled trials.ResultsA total of 40 studies met our inclusion criteria. Overall, the studies were heterogeneous in the type of study design, population, intervention, research context, and the tools used. Most of the studies' populations were research participants (ie, patients and healthy volunteers). The majority of studies addressed barriers to achieving adequate understanding when using electronic informed consent. Concerns shared by multiple stakeholder groups were related to the security and legal validity of an electronic informed consent platform and usability for specific groups of research participants.ConclusionsElectronic informed consent has the potential to improve the informed consent process in biomedical research compared to the current paper-based consent. The ethical, legal, regulatory, and user interface perspectives outlined in this review might serve to enhance the future implementation of electronic informed consent.Trial registrationPROSPERO International Prospective Register of Systematic Reviews CRD42020158979; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=158979.

Project description:BackgroundClinical genomic implementation studies pose challenges for informed consent. Consent forms often include complex language and concepts, which can be a barrier to diverse enrollment, and these studies often blur traditional research-clinical boundaries. There is a move toward self-directed, web-based research enrollment, but more evidence is needed about how these enrollment approaches work in practice. In this study, we developed and evaluated a literacy-focused, web-based consent approach to support enrollment of diverse participants in an ongoing clinical genomic implementation study. Methods: As part of the Cancer Health Assessments Reaching Many (CHARM) study, we developed a web-based consent approach that featured plain language, multimedia, and separate descriptions of clinical care and research activities. CHARM offered clinical exome sequencing to individuals at high risk of hereditary cancer. We interviewed CHARM participants about their reactions to the consent approach. We audio recorded, transcribed, and coded interviews using a deductively and inductively derived codebook. We reviewed coded excerpts as a team to identify overarching themes. Results: We conducted 32 interviews, including 12 (38%) in Spanish. Most (69%) enrolled without assistance from study staff, usually on a mobile phone. Those who completed enrollment in one day spent an average of 12 minutes on the consent portion. Interviewees found the information simple to read but comprehensive, were neutral to positive about the multimedia support, and identified increased access to testing in the study as the key difference from clinical care. Conclusions: This study showed that interviewees found our literacy-focused, web-based consent approach acceptable; did not distinguish the consent materials from other online study processes; and valued getting access to testing in the study. Overall, conducting empirical bioethics research in an ongoing clinical trial was useful to demonstrate the acceptability of our novel consent approach but posed practical challenges.

Dataset Information

Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.

Publications

Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.

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