Dataset Information

Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change.

ABSTRACT: The goal of this study was to examine participant responses to disclosure of genetic results in a minority population at high risk for depression and anxiety.Eighty-two subjects in a genetic study of nicotine dependence were offered personalized genetic results. All were nicotine-dependent and 64% self-identified as African American. Pathway Genomics was used to evaluate genetic risks for five complex diseases. Participants returned 4-8 weeks after enrollment for in-person genetic counseling interviews and evaluation of baseline measures. A telephone follow-up was performed 4-8 weeks later to assess responses to results.Fifty of the 82 subjects (61%) were interested in receiving genetic results. These participants had multiple risk factors, including high baseline measures of depression (66%) and anxiety (32%), as well as low rates of employment (46%), adequate health literacy (46%), and health insurance (45%). Pathway Genomics reported "increased risk" for at least one disease in 77% of subjects. Ninety-five percent of participants reported that they appreciated the genetic results, and receiving these results was not associated with changes in symptoms of depression or anxiety. Furthermore, after return of genetic results, smoking cessation attempts increased (P = 0.003).Even in an underserved population at high risk for adverse psychological reactions, subjects responded positively to personalized genetic results.

SUBMITTER: Hartz SM

PROVIDER: S-EPMC4344933 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature

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Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change.

Hartz Sarah M SM Olfson Emily E Culverhouse Robert R Cavazos-Rehg Patricia P Chen Li-Shiun LS DuBois James J Fisher Sherri S Kaphingst Kimberly K Kaufman David D Plunk Andrew A Ramnarine Shelina S Solomon Stephanie S Saccone Nancy L NL Bierut Laura J LJ

Genetics in medicine : official journal of the American College of Medical Genetics 20140828 5

<h4>Purpose</h4>The goal of this study was to examine participant responses to disclosure of genetic results in a minority population at high risk for depression and anxiety.<h4>Methods</h4>Eighty-two subjects in a genetic study of nicotine dependence were offered personalized genetic results. All were nicotine-dependent and 64% self-identified as African American. Pathway Genomics was used to evaluate genetic risks for five complex diseases. Participants returned 4-8 weeks after enrollment for ...[more]

PMID: 25166427

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Project description: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.

Project description:Despite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to systematically review the empirical literature exploring stakeholders' perspectives on return of individual research results (IRR) from genomic research. We examined preferences for receiving or willingness to return IRR, and experiences with either receiving or returning them. The systematic searches were conducted across five major databases in August 2018 and repeated in April 2020, and included studies reporting findings from primary research regardless of method (quantitative, qualitative, mixed). Articles that related to the clinical setting were excluded. Our search identified 221 articles that met our search criteria. This included 118 quantitative, 69 qualitative and 34 mixed methods studies. These articles included a total number of 118,874 stakeholders with research participants (85,270/72%) and members of the general public (40,967/35%) being the largest groups represented. The articles spanned at least 22 different countries with most (144/65%) being from the USA. Most (76%) discussed clinical research projects, rather than biobanks. More than half (58%) gauged views that were hypothetical. We found overwhelming evidence of high interest in return of IRR from potential and actual genomic research participants. There is also a general willingness to provide such results by researchers and health professionals, although they tend to adopt a more cautious stance. While all results are desired to some degree, those that have the potential to change clinical management are generally prioritized by all stakeholders. Professional stakeholders appear more willing to return results that are reliable and clinically relevant than those that are less reliable and lack clinical relevance. The lack of evidence for significant enduring psychological harm and the clear benefits to some research participants suggest that researchers should be returning actionable IRRs to participants.

Project description:Background and objectivesActionable genetic findings have implications for care of patients with kidney disease, and genetic testing is an emerging tool in nephrology practice. However, there are scarce data regarding best practices for return of results and clinical application of actionable genetic findings for kidney patients.Design, setting, participants, & measurementsWe developed a return of results workflow in collaborations with clinicians for the retrospective recontact of adult nephrology patients who had been recruited into a biobank research study for exome sequencing and were identified to have medically actionable genetic findings.ResultsUsing this workflow, we attempted to recontact a diverse pilot cohort of 104 nephrology research participants with actionable genetic findings, encompassing 34 different monogenic etiologies of nephropathy and five single-gene disorders recommended by the American College of Medical Genetics and Genomics for return as medically actionable secondary findings. We successfully recontacted 64 (62%) participants and returned results to 41 (39%) individuals. In each case, the genetic diagnosis had meaningful implications for the patients' nephrology care. Through implementation efforts and qualitative interviews with providers, we identified over 20 key challenges associated with returning results to study participants, and found that physician knowledge gaps in genomics was a recurrent theme. We iteratively addressed these challenges to yield an optimized workflow, which included standardized consultation notes with tailored management recommendations, monthly educational conferences on core topics in genomics, and a curated list of expert clinicians for patients requiring extranephrologic referrals.ConclusionsDeveloping the infrastructure to support return of genetic results in nephrology was resource-intensive, but presented potential opportunities for improving patient care.PodcastThis article contains a podcast at https://www.asn-online.org/media/podcast/CJASN/2020_04_16_12481019.mp3.

Project description:BackgroundThere has been a cultural shift toward patient engagement in health, with a growing demand from patients to access their results.ObjectiveThe Lymphoma Intervention (LIVE) trial is conducted to examine the impact of return of individual patient-reported outcome (PRO) results and a web-based self-management intervention on psychological distress, self-management, satisfaction with information, and health care use in a population-based setting.MethodsReturn of PRO results included comparison with age- and sex-matched peers and was built into the Patient-Reported Outcomes Following Initial Treatment and Long-Term Evaluation of Survivorship registry. The self-management intervention is an adaptation of a fully automated evidence-based intervention for breast cancer survivors. Patients with lymphoma who completed the web-based questionnaire were equally randomized to care as usual, return of PRO results, and return of PRO results plus self-management intervention. Patients completed questionnaires 9 to 18 months after diagnosis (T0; n=227), 4 months (T1; n=190), 12 months (T2; n=170), and 24 months (T3; n=98).ResultsOf all invited patients, 51.1% (456/892) responded and web-based participants (n=227) were randomly assigned to care as usual (n=76), return of PRO results (n=74), or return of PRO results and access to Living with lymphoma (n=77). Return of PRO results was viewed by 76.7% (115/150) of those with access. No statistically significant differences were observed for psychological distress, self-management, satisfaction with information provision, and health care use between patients who received PRO results and those who did not (P>.05). Use of the self-management intervention was low (2/76, 3%), and an effect could therefore not be determined.ConclusionsReturn of individual PRO results seems to meet patients' wishes but had no beneficial effects on patient outcome. No negative effects were found when individual PRO results were disclosed, and the return of individual PRO results can therefore be safely implemented in daily clinical practice.Trial registrationNetherlands Trial Register NTR5953; https://www.trialregister.nl/trial/5790.International registered report identifier (irrid)RR2-10.1186/s13063-017-1943-2.

Project description:BACKGROUND:Mentoring plays a pivotal role in workplace-based learning, especially in the medical realm. Organising a formal mentoring programme can be labor and time intensive and generally impractical in resource constrained medical schools with limited numbers of mentors. Hence, informal mentoring offers a valuable alternative, but will be more likely to be effective when mentors and protégés share similar views. It is therefore important to gain more insight into factors influencing perceptions of informal mentoring. This study aims to explore mentors and protégés' perceptions of informal mentoring and how these vary (or not) with gender, age and the duration of the relationship. METHOD:We administered an Informal Mentor Role Instrument (IMRI) to medical practitioners and academics from Egypt, Pakistan and Saudi Arabia. The questionnaire was developed for the study from other validated instruments. It contained 39 items grouped into 7 domains: acceptance, counselling, friendship, parenting, psychological support, role modelling and sociability. RESULTS:A total of 103 mentors and 91 protégés completed the IMRI. Mentors had a better appreciation for the interpersonal aspects of informal mentoring than protégés, especially regarding acceptance, counselling and friendship. Moreover, being older and engaged in a longer mentoring relationship contributed to more positive perceptions of interpersonal aspects of mentoring, regardless of one's role (mentor or protégé). CONCLUSION:It can be concluded that the expectations of mentors and protégés differed regarding the content and aim of the interpersonal characteristics of their mentoring relationship. We recommend mentors and protégés to more explicitly exchange their expectations of the informal mentoring relationship, as typically practiced in formal mentoring. Additionally, in our study, seniority and lasting relationships seem crucial for good informal mentoring. It appears beneficial to foster lasting informal mentoring relationships and to give more guidance to younger mentors.

Dataset Information

Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change.

Publications

Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change.

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