Return of individual results in epilepsy genomic research: A view from the field

Ottman, Ruth; Freyer, Catharine; Mefford, Heather C; Poduri, Annapurna; Lowenstein, Daniel H.

doi:10.1111/epi.14530

Cited by 9 publications

(8 citation statements)

References 57 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Currently, most research ethics committees (RECs) institutions require researchers to engage the communities before commencing and upon completion of studies [ 23 , 28 , 54 – 58 ]. Due to the variability of research results and the lack of reference information, participants should be allowed to choose which results to receive during the consenting process [ 59 , 60 ].…”

Section: Discussionmentioning

confidence: 99%

Perspectives on returning individual and aggregate genomic research results to study participants and communities in Kenya: a qualitative study

et al. 2022

View full text Add to dashboard Cite

Background A fundamental ethical challenge in conducting genomics research is the question of what and how individual level genetic findings and aggregate genomic results should be conveyed to research participants and communities. This is within the context of minimal guidance, policies, and experiences, particularly in Africa. The aim of this study was to explore the perspectives of key stakeholders' on returning genomics research results to participants in Kenya. Methods This qualitative study involved focus group discussions (FGDs) and in-depth interviews (IDIs) with 69 stakeholders. The purposively selected participants, included research ethics committee (REC) members (8), community members (44), community resource persons (8), and researchers (9). A semi-structured interview guide was used to facilitate discussions. Six FGDs and twenty-five (IDIs) were conducted among the different stakeholders. The issues explored in the interviews included: (1) views on returning results, (2) kind of results to be returned, (3) value of returning results to participants, and (4) challenges anticipated in returning results to participants and communities. The interviews were audio-recorded, transcribed verbatim, and coded in Nvivo 12 pro. Thematic and content analysis was conducted. Results Participants agreed on the importance of returning genomic results either as individual or aggregate results. The most cited reasons for returning of genomic results included recognizing participants' contribution to research, encouraging participation in future research, and increasing the awareness of scientific progress. Other aspects on how genomic research results should be shared included sharing easy to understand results in the shortest time possible and maintaining confidentiality when sharing sensitive results. Conclusions This study identified key stakeholders’ perspectives on returning genomic results at the individual and community levels in two urban informal settlements of Nairobi. The majority of the participants expect to receive feedback about their genomic results, and it is an obligation for researchers to see how to best fulfil it.

show abstract

Section: Discussionmentioning

confidence: 99%

Perspectives on returning individual and aggregate genomic research results to study participants and communities in Kenya: a qualitative study

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Descriptive statistics are presented for survey responses, stratified by sociodemographic and clinical covariates: sex, age, study site, cohort (enriched or standard), self-reported race (white, black, Asian, or other) and ethnicity (Hispanic or non-Hispanic), income, and education level. For the three main outcomes, multivariable logistic regression models adjusted for these a priori selected sociodemographic and clinical covariates, based on the researcher's knowledge and prior literature, are presented as odds ratios with 95% confidence intervals [7][8][9][10][11][12][13][14][15]. All quantitative analyses were conducted on Python (v2.7.1); a nominal p-value (i.e., unadjusted for multiple comparisons) of <0.05 was considered statistically significant.…”

Section: Discussionmentioning

confidence: 99%

“…In recent years, calls for a more participant-centric research approach have included support for the belief that participants have a right to their health data and that investigators have an obligation to return research results to participants [7][8][9][10]. Prior work on returning single data types, such as imaging and genetic data, has shown promising but mixed results, with the opportunity to create value intermixed with cautionary notes of potential harms [11][12][13][14][15].…”

Section: Introductionmentioning

confidence: 99%

Return of individual research results: What do participants prefer and expect?

et al. 2021

View full text Add to dashboard Cite

Newer data platforms offer increased opportunity to share multidimensional health data with research participants, but the preferences of participants for which data to receive and how is evolving. Our objective is to describe the preferences and expectations of participants for the return of individual research results within Project Baseline Health Study (PBHS). The PBHS is an ongoing, multicenter, longitudinal cohort study with data from four initial enrollment sites. PBHS participants are recruited from the general population along with groups enriched for heart disease and cancer disease risk. Cross-sectional data on return of results were collected in 2017–2018 from an (1) in-person enrollment survey (n = 1,890), (2) benchmark online survey (n = 1,059), and (3) participant interviews (n = 21). The main outcomes included (1) preferences for type of information to be added next to returned results, (2) participant plans for sharing returned results with a non-study clinician, and (3) choice to opt-out of receiving genetic results. Results were compared by sociodemographic characteristics. Enrollment and benchmark survey respondents were 57.1% and 53.5% female, and 60.0% and 66.2% white, respectively. Participants preferred the following data types be added to returned results in the future: genetics (29.9%), heart imaging, (16.4%), study watch (15.8%), and microbiome (13.3%). Older adults (OR 0.60, 95% CI: 0.41–0.87) were less likely to want their genetic results returned next. Forty percent of participants reported that they would not share all returned results with their non–study clinicians. Black (OR 0.64, 95% CI 0.43–0.95) and Asian (OR 0.47, 95% CI 0.30–0.73) participants were less likely, and older participants more likely (OR 1.45–1.61), to plan to share all results with their clinician than their counterparts. At enrollment, 5.8% of participants opted out of receiving their genetics results. The study showed that substantial heterogeneity existed in participant’s preferences and expectations for return of results, and variations were related to sociodemographic characteristics.

show abstract

“…[28][29][30][31] Discovery of a molecular genetic cause for a type of epilepsy, and determination of the molecular genetic cause of an individual's epilepsy, has been heralded as the end of the diagnostic odyssey. 32 It is also the start of another, different, set of journeys and questions, which are likely to be complex, and for most of which we have not yet scoped out the landscape and may not yet have the tools to navigate 33,34 : in this context, the GLUT1 deficiency syndrome, for which ketogenic dietary treatments are often considered precision medicine, has been thoughtfully reconsidered. 35 In our current paradigm, the necessary first step after gene discovery is to secure functional evidence that the putatively pathogenic variants identified in the gene have a consequence.…”

Section: S97mentioning

confidence: 99%

Precision medicine and therapies of the future

Sisodiya

2020

Epilepsia

View full text Add to dashboard Cite

Precision medicine in the epilepsies has gathered much attention, especially with gene discovery pushing forward new understanding of disease biology. Several targeted treatments are emerging, some with considerable sophistication and individual‐level tailoring. There have been rare achievements in improving short‐term outcomes in a few very select patients with epilepsy. The prospects for further targeted, repurposed, or novel treatments seem promising. Along with much‐needed success, difficulties are also arising. Precision treatments do not always work, and sometimes are inaccessible or do not yet exist. Failures of precision medicine may not find their way to broader scrutiny. Precision medicine is not a new concept: It has been boosted by genetics and is often focused on genetically determined epilepsies, typically considered to be driven in an individual by a single genetic variant. Often the mechanisms generating the full clinical phenotype from such a perceived single cause are incompletely understood. The impact of additional genetic variation and other factors that might influence the clinical presentation represent complexities that are not usually considered. Precision success and precision failure are usually equally incompletely explained. There is a need for more comprehensive evaluation and a more rigorous framework, bringing together information that is both necessary and sufficient to explain clinical presentation and clinical responses to precision treatment in a precision approach that considers the full picture not only of the effects of a single variant, but also of its genomic and other measurable environment, within the context of the whole person. As we may be on the brink of a treatment revolution, progress must be considered and reasoned: One possible framework is proposed for the evaluation of precision treatments.

show abstract

Return of individual results in epilepsy genomic research: A view from the field

Cited by 9 publications

References 57 publications

Perspectives on returning individual and aggregate genomic research results to study participants and communities in Kenya: a qualitative study

Perspectives on returning individual and aggregate genomic research results to study participants and communities in Kenya: a qualitative study

Return of individual research results: What do participants prefer and expect?

Precision medicine and therapies of the future

Contact Info

Product

Resources

About