Patient recommendations for content and design for electronic return of genetic test results: An interview study among patients who accessed their genetic test results online (Preprint)

Mapping Intimacies ◽

10.2196/preprints.29706 ◽

2021 ◽

Author(s):

Diane M Korngiebel ◽

Kathleen McGlone West

Keyword(s):

Patient Preferences ◽

Genetic Test ◽

Smartphone Application ◽

Patient Portal ◽

Genetic Test Result ◽

Test Results ◽

User Centered Design ◽

Detailed Report ◽

Genetic Test Results ◽

Test Result

BACKGROUND Genetic test results will be increasingly made available electronically as more patient-facing tools are developed; however, little research has been done that collects patient preferences for content and design before creating results templates. OBJECTIVE This study identifies patient preferences for electronic return of genetic test results, including what considerations should be prioritized for content and design. METHODS Following User-Centered Design methods, 59 interviews were conducted using semi-structured protocols. The interviews explored content and design issues for patient portal results return for patients who received electronic results for specific types of genetic tests (pharmacogenomic, hereditary blood disorders, and positive and negative risk results for heritable cancers) or who had electronically received any type of genetic test result as well as a non-genetic test result. RESULTS In general, a majority of participants felt that there always needed to be some clinician involvement in electronic results return and that electronic coversheets with simple summaries would be helpful for facilitating that. Coversheet summaries could accompany, but not replace, the more detailed report. Participants had specific suggestions for those results summaries, such as only reporting the information that was most important for patients to understand, including next steps, and to do so using clear language free of medical jargon. Electronic results return should also include explicit encouragement for patients to contact providers with questions. Finally, many participants preferred to manage their care using their smartphones, particularly in instances where they needed to access health information on the go. CONCLUSIONS Participants recommended that a patient-friendly front section accompany the more detailed report and made suggestions for organization, content, and wording. Many used their smartphones regularly to access test results, therefore, health systems and patient portal software vendors should accommodate smartphone application design and web portal design concomitantly when developing results return platforms. CLINICALTRIAL N/A

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Colorectal Cancer Risk Perception on the Basis of Genetic Test Results in Individuals at Risk for Lynch Syndrome

Journal of Clinical Oncology ◽

10.1200/jco.2008.18.6940 ◽

2009 ◽

Vol 27 (24) ◽

pp. 3981-3986 ◽

Cited By ~ 16

Author(s):

Shilpa Grover ◽

Elena M. Stoffel ◽

Rowena C. Mercado ◽

Beth M. Ford ◽

Wendy K. Kohlman ◽

...

Keyword(s):

Colorectal Cancer ◽

Genetic Testing ◽

Risk Perception ◽

Cancer Risk ◽

Lynch Syndrome ◽

Genetic Test ◽

Genetic Test Result ◽

Test Results ◽

Genetic Test Results ◽

Test Result

Purpose Lynch syndrome is associated with inherited germline mutations in mismatch repair (MMR) genes. Genetic testing in high-risk individuals may yield indeterminate results if no mutation is found or if a mutation of unclear pathogenic significance is observed. There are limited data regarding how well patients with Lynch syndrome understand the clinical implications of genetic test results. This study examines colorectal cancer (CRC) risk perception in individuals tested for MMR mutations and identifies the factors associated with an appropriate interpretation of their cancer risk. Patients and Methods A total of 159 individuals who met the Revised Bethesda Guidelines and had previously undergone genetic testing completed a questionnaire eliciting demographic data, cancer history, genetic test results, and an estimate of their CRC risk. Associations between clinical factors, genetic test results, and CRC risk perception were explored using multivariable analyses. Results Of the 100 individuals with a pathogenic mutation (true positive), 90 (90%) correctly estimated their CRC risk as “high” or “very high” compared with other individuals their age. However, only 23 (62%) of 37 individuals with an indeterminate genetic test result correctly estimated their risk. Individuals with a history of Lynch syndrome–associated cancer (odds ratio [OR], 0.1; 95% CI, 0.1 to 0.6) or indeterminate genetic test results (OR, 0.2; 95% CI, 0.1 to 0.6) were significantly less likely to estimate their CRC risk as increased. Conclusion Patients at risk for Lynch syndrome with an indeterminate genetic test result may be falsely reassured. It is important that health care providers continue to discuss the implications of uninformative results on lifetime cancer risk.

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Sharing BRCA1/2 Test Results With First-Degree Relatives: Factors Predicting Who Women Tell

Journal of Clinical Oncology ◽

10.1200/jco.2005.01.7541 ◽

2006 ◽

Vol 24 (4) ◽

pp. 700-706 ◽

Cited By ~ 131

Author(s):

Andrea Farkas Patenaude ◽

Michel Dorval ◽

Lisa S. DiGianni ◽

Katherine A. Schneider ◽

Anu Chittenden ◽

...

Keyword(s):

Family Communication ◽

Genetic Test ◽

Educational Interventions ◽

Test Results ◽

Related Factors ◽

True Negative ◽

Full Spectrum ◽

First Degree Relatives ◽

Genetic Test Results ◽

Test Result

Purpose Patient communication with relatives about cancer genetic test results is the primary means for alerting those who may benefit from identification of hereditary risk. This study identifies factors predicting patterns of disclosure of BRCA1/2 test results to first-degree relatives (FDRs) among women tested in a clinical protocol. Patients and Methods A total of 273 women completed a family communication measure 4 months after BRCA1/2 result disclosure. χ2 analyses and logistic regression models identified factors predicting sharing of the test result. Results Most FDRs were informed of the participant's test result by 4 months; female relatives were more likely to be informed than males. Tested women conveyed inconclusive results (variant or negative without known familial mutation) less frequently to their sisters than conclusive (positive/true negative) results (P = .03). Twenty-three percent of participants did not inform their father. Informing brothers was more likely when BRCA1/2 was inherited through paternal lineage (P = .04), but 29% of brothers were not informed. Women older than age 40 were less likely to share their result with their parents (P = .03) than were women ≤ 40. Children's ages influenced communication to offspring; most children were told. Conclusion Demographic, health-, and test-related factors predicted genetic test result communication to FDRs. Additional research investigating the full spectrum of discussion within families and motives for incomplete sharing of genetic test results with relatives may suggest strategies for providers and targeted educational interventions for patients to enhance family communication.

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Parents' long-term adjustment to the genetic test results of minors at risk for Long QT Syndrome

PsycEXTRA Dataset ◽

10.1037/e524332011-015 ◽

2004 ◽

Author(s):

K. S. W. H. Hendriks ◽

F. J. M. Grosfeld ◽

A. A. M. Wilde ◽

J. van den Bout ◽

I. M. van Langen ◽

...

Keyword(s):

At Risk ◽

Long Qt Syndrome ◽

Genetic Test ◽

Test Results ◽

Long Qt ◽

Genetic Test Results ◽

Qt Syndrome

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Supplemental Material for Behavioral Impact of Return of Genetic Test Results for Complex Disease: Systematic Review and Meta-Analysis

Health Psychology ◽

10.1037/hea0000683.supp ◽

2018 ◽

Keyword(s):

Systematic Review ◽

Complex Disease ◽

Genetic Test ◽

Meta Analysis ◽

Test Results ◽

Genetic Test Results ◽

Behavioral Impact

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Metagnosis

10.1093/oso/9780197510766.001.0001 ◽

2020 ◽

Author(s):

Danielle Spencer

Keyword(s):

Real World ◽

Genetic Test ◽

Narrative Medicine ◽

Test Results ◽

Diagnostic Categories ◽

Genomic Knowledge ◽

Blade Runner ◽

Genetic Test Results ◽

Scant Attention ◽

Productive Model

This book identifies and names the phenomenon of metagnosis: the experience of newly learning in adulthood of a long-standing condition. It can occur when the condition has remained undetected (e.g., colorblindness) and/or when the diagnostic categories themselves have shifted (e.g., ADHD). More broadly, it can occur with unexpected revelations bearing upon selfhood, such as surprising genetic test results. This phenomenon has received relatively scant attention, yet learning of an unknown condition is frequently a significant and bewildering revelation, subverting narrative expectations and customary categories. In addressing the topic this book deploys an evolution of narrative medicine as a robust research methodology comprising interdisciplinarity, narrative attentiveness, and creating a writerly text. Beginning with the author’s own experience of metagnosis, it explores the issues it raises—from communicability to narrative intelligibility to different ways of seeing. Next, it traces the distinctive metagnostic narrative arc through the stages of recognition, subversion, and renegotiation, discussing this trajectory in light of a range of metagnostic experiences, from Blade Runner to real-world midlife diagnoses. Finally, it situates metagnosis in relation to genetic revelations and the broader discourses concerning identity. Proposing that the figure of blindsight—drawn from the author’s metagnostic experience—offers a productive model for negotiating such revelations, the book suggests that better understanding metagnosis will not simply aid those directly affected but will also serve as a bellwether for how we will all navigate advancing biomedical and genomic knowledge, and how we may fruitfully interrogate the very notion of identity.

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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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