Discrepant DNA analysis in three patients with inherited arrhythmia: Molecular genetic test results deserve a second glance

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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Communication of genetic test results to family and health-care providers following disclosure of research results

Genetics in Medicine ◽

10.1038/gim.2013.137 ◽

2013 ◽

Vol 16 (4) ◽

pp. 294-301 ◽

Cited By ~ 20

Author(s):

Keyword(s):

Health Care ◽

Health Care Providers ◽

Genetic Test ◽

Test Results ◽

Care Providers ◽

Research Results ◽

Genetic Test Results

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Correction to: Japanese insurers’ attitudes toward adverse selection and genetic discrimination: a questionnaire survey and interviews with employees about using genetic test results

Journal of Human Genetics ◽

10.1038/s10038-020-00886-7 ◽

2020 ◽

Author(s):

Hiroshi Iida ◽

Kaori Muto

Keyword(s):

Adverse Selection ◽

Questionnaire Survey ◽

Genetic Test ◽

Genetic Discrimination ◽

Test Results ◽

Genetic Test Results

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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)

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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Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results

Pilot and Feasibility Studies ◽

10.1186/s40814-017-0205-0 ◽

2017 ◽

Vol 3 (1) ◽

Cited By ~ 5

Author(s):

Yana Smagarinsky ◽

Charlotte Burns ◽

Catherine Spinks ◽

Christopher Semsarian ◽

Jodie Ingles

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Genetic Test ◽

Test Results ◽

Communication Aid ◽

Genetic Test Results

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