Preferences for Return of Genetic Results Among Participants in the Jackson Heart Study and Framingham Heart Study

Background: Surveys suggest that most research participants desire access to secondary (incidental) genomic findings. However, few studies clarify whether preferences vary by the nature of the finding. Methods: We surveyed members of the JHS (Jackson Heart Study, n=960), the FHS (Framingham Heart Study; n=955), and African American members of the FHS Omni cohort (n=160) who had consented to genomic studies. Each factorial survey included 3 vignettes, randomly selected from a set of 64, that described a secondary genomic result. Vignettes varied systematically by 5 factors identified by expert panels as salient: phenotype severity, actionability (preventability), reproductive significance, and relative and absolute risk of the phenotype. Respondents indicated whether they would want to receive the result. Data were analyzed separately by cohort using generalized linear mixed models. Results: Response rates ranged from 67% to 73%. Across vignettes, 88% to 92% of respondents would definitely or probably want to learn the result. In multivariate analyses among JHS respondents, desire for results was associated with positive attitudes towards genetic testing, lower education, higher subjective numeracy, and younger age, but not with any of the 5 factors. Among FHS respondents, desire for results was associated with higher absolute risk, preventability, reproductive risk, and positive attitudes towards genetic testing. Among FHS Omni respondents, desire for results was associated with positive attitudes towards genetic testing and younger age. Conclusions: Most genetic research participants desire return of secondary genetic results. Several factors identified by expert panels as salient are associated with preferences among FHS, but not JHS or FHS Omni, participants.

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Ethical Issues in Genetic Research with Infants

Ethics and Research with Children ◽

10.1093/med-psych/9780190647254.003.0009 ◽

2018 ◽

pp. 155-171

Author(s):

Erin Rothwell ◽

Jeffrey R. Botkin

Keyword(s):

Health Care ◽

Genetic Testing ◽

Ethical Issues ◽

Genetic Research ◽

Newborn Health ◽

Research Use ◽

Whole Genome ◽

Use Of Data ◽

The Impact ◽

Genetic Results

There are a number of ethical issues raised when newborns participate in research. Two examples include genetic testing, and the storage and research use of biospecimens collected from newborns. This chapter highlights a range of ethical, legal, and social implications with these practices. Examples from retention of residual newborn screening bloodspots, use of biospecimens collected from infants in biomedical research, concerns with the use of whole genome sequencing, and challenges of consent during the newborn period are discussed. These issues are explored within the context of newborns who are healthy or newborns faced with an undiagnosed condition. At this time, more research is needed to understand the impact of genomics on newborn health care, the storage and use of data generated from biospecimens, and how genetic results from newborns impact families. Further challenges around consent and parental permission are also discussed.

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Consent for genetic research in the Framingham Heart Study

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.33377 ◽

2010 ◽

Vol 152A (5) ◽

pp. 1250-1256 ◽

Cited By ~ 18

Author(s):

Daniel Levy ◽

Greta Lee Splansky ◽

Nicolle K. Strand ◽

Larry D. Atwood ◽

Emelia J. Benjamin ◽

...

Keyword(s):

Framingham Heart Study ◽

Genetic Research ◽

Heart Study

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Faculty Opinions recommendation of Cross-sectional association of kidney function with valvular and annular calcification: the Framingham heart study.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.10329.467818 ◽

2006 ◽

Author(s):

David Goldsmith

Keyword(s):

Kidney Function ◽

Framingham Heart Study ◽

Cross Sectional ◽

Heart Study ◽

Annular Calcification

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Faculty Opinions recommendation of 50 year trends in atrial fibrillation prevalence, incidence, risk factors, and mortality in the Framingham Heart Study: a cohort study.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725484109.793508979 ◽

2015 ◽

Author(s):

Gad Cotter ◽

Olga Milo

Keyword(s):

Risk Factors ◽

Atrial Fibrillation ◽

Cohort Study ◽

Framingham Heart Study ◽

Heart Study ◽

Incidence Risk

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Faculty Opinions recommendation of The Association between Non-Invasive Hepatic Fibrosis Markers and Cardiometabolic Risk Factors in the Framingham Heart Study.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.726446607.793520271 ◽

2016 ◽

Author(s):

Philip Rosenthal

Keyword(s):

Risk Factors ◽

Hepatic Fibrosis ◽

Framingham Heart Study ◽

Cardiometabolic Risk ◽

Cardiometabolic Risk Factors ◽

Non Invasive ◽

Heart Study

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Faculty Opinions recommendation of Temporal associations between smoking and cardiovascular disease, 1971 to 2006 (from the framingham heart study).

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.732001263.793540617 ◽

2017 ◽

Author(s):

Wilbert Aronow

Keyword(s):

Cardiovascular Disease ◽

Framingham Heart Study ◽

Heart Study

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Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

ACI Open ◽

10.1055/s-0040-1719059 ◽

2020 ◽

Vol 04 (02) ◽

pp. e132-e135

Author(s):

Luke V. Rasmussen ◽

Christin Hoell ◽

Maureen E. Smith ◽

Rex Chisholm ◽

Justin Starren ◽

...

Keyword(s):

Genetic Research ◽

Lessons Learned ◽

Return Of Results ◽

Patient Portal ◽

Test Results ◽

Research Results ◽

Genetic Test Results ◽

Future Return ◽

New Research ◽

Genetic Results

Abstract Background While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations Methods We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

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Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

Applied Clinical Informatics ◽

10.1055/s-0040-1718753 ◽

2020 ◽

Vol 11 (05) ◽

pp. 755-763

Author(s):

Shibani Kanungo ◽

Jayne Barr ◽

Parker Crutchfield ◽

Casey Fealko ◽

Neelkamal Soares

Keyword(s):

Genetic Testing ◽

Best Practices ◽

Health Care Providers ◽

Genetic Information ◽

Ethical Issues ◽

Interdisciplinary Approach ◽

Care Providers ◽

Ethical Considerations ◽

Electronic Health ◽

Genetic Results

Abstract Background Advances in technology and access to expanded genetic testing have resulted in more children and adolescents receiving genetic testing for diagnostic and prognostic purposes. With increased adoption of the electronic health record (EHR), genetic testing is increasingly resulted in the EHR. However, this leads to challenges in both storage and disclosure of genetic results, particularly when parental results are combined with child genetic results. Privacy and Ethical Considerations Accidental disclosure and erroneous documentation of genetic results can occur due to the nature of their presentation in the EHR and documentation processes by clinicians. Genetic information is both sensitive and identifying, and requires a considered approach to both timing and extent of disclosure to families and access to clinicians. Methods This article uses an interdisciplinary approach to explore ethical issues surrounding privacy, confidentiality of genetic data, and access to genetic results by health care providers and family members, and provides suggestions in a stakeholder format for best practices on this topic for clinicians and informaticians. Suggestions are made for clinicians on documenting and accessing genetic information in the EHR, and on collaborating with genetics specialists and disclosure of genetic results to families. Additional considerations for families including ethics around results of adolescents and special scenarios for blended families and foster minors are also provided. Finally, administrators and informaticians are provided best practices on both institutional processes and EHR architecture, including security and access control, with emphasis on the minimum necessary paradigm and parent/patient engagement and control of the use and disclosure of data. Conclusion The authors hope that these best practices energize specialty societies to craft practice guidelines on genetic information management in the EHR with interdisciplinary input that addresses all stakeholder needs.

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