Series
The 5th ELSI Congress - ELSIcon2022
Title
ELSIcon2022 Flash: Reconstruction of Normality Following the Diagnosis of Ehlers Danlos Syndromes
Type
Conference
ELSIcon2022 • Flash • May 27, 2022
Hannah Mundinger, Kimberly Kaphingst, Allison Blumling
Background:
The Ehlers Danlos Syndromes (EDS) are a constellation of rare heritable connective tissue disorders involving a variety of collagen mutations. Early diagnosis is essential for condition management. However, those with EDS often experience significant diagnostic delay. A dearth of research and limited access to medical providers specializing in EDS protracts diagnostic time. This analysis examines the impact of receiving a diagnosis on individuals’ understanding of self and construction of normality.
Methods:
Thirty qualitative semi-structured interviews were conducted with data collection ceasing upon saturation. Recruitment of adults with diagnosed or suspected EDS occurred through a regional EDS support group. Interview questions were structured into three time frames related to the diagnostic odyssey: before, during, and after diagnosis. Data are being assessed inductively through constant comparison analysis.
Results:
Findings to date indicate that the ability to attribute symptoms to a condition name, whether through genetic diagnosis, physician diagnosis by phenotype, or participant self-assessment, and not disease presence elicits a spectrum of biographical disturbances. These disturbances range from biographical disruption to biographical continuity and are grounded within the construct of normality. The frequently delayed diagnosis of EDS forces individuals to navigate and restructure present and past constructs of normality.
Discussion:
Little is known on how the delayed diagnosis of rare genetic disorders within the adult population impacts individuals’ understanding of self and psychological health. For those with EDS, quicker diagnosis is essential for mitigating physiological and psychological harm. This study illuminates a connection between diagnostic delay and psychological outcomes.
Tags
Keywords
Lived experience of genetic conditions
Patient-provider communication
Flash
Pre-Recorded
Videos in Series
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: A Survey on Public Perception toward the Korean National Bio Big Data Project
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Extending the Belmont Principles: Sovereignty and Solidarity in Genomic Research
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 12
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Reproductive Concerns of Disabled Women: Whose Definitions of Disability are We Embracing?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Engaging Adolescents in Genomic Decision Making
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Facilitators and barriers to ethical machine learning in healthcare: A qualitative study on developer perspectives of potential harms
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 13
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Parent-reported barriers and facilitators to accessing care recommended from genomic sequencing in pediatric cancer patients
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: The Ethics of Influence and Choice Architecture in Genomics: Where Have We Been and Where Are We Going?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Disability Justice and Precision Medicine Across the Lifespan: Towards a Future of Equity and Access
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Ethical, Clinical, Legal, and Economic Issues Surrounding Genetic Variant Reinterpretation
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Neglected ELSI in Biobanking: Addressing Issues of Governance, Stewardship, and Equity
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 17
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Socioeconomic Status and Interest in Pursuing Genetic Testing for Hereditary Cancer in a US Based Population
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Democratizing Knowledge for Sickle Cell Disease Gene Therapy: A Deliberative Stakeholder Engagement Approach
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Embryoids: What are they, should we be concerned, should they be regulated, and if so, how?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 15
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Biological sample donation and informed consent for neurobiobanking: Evidence from a community survey in Ghana and Nigeria
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Fresh Air for Genetic Data Sharing
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Public Engagement in Governance of Human Genome Editing in the Post-He Jiankui Era
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: "Extremely slow and capricious:" Genetic Researcher Experiences Using Shared Data Resources
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Consumers’ Perspectives Following Direct-to-Consumer Genetic Testing for Cancer Risk
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Flash Session 2
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Incorporating Patient and Relative Preferences in the Design of Traceback Cascade Testing Initiatives
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Patients’ expectations of benefits from large-panel genomic tumor testing in rural community oncology practices
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Moderated Plenary Panel
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Consumer Willingness to Share Personal Digital Information for Health-Related Uses
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Ensuring equity through insurance coverage for whole exome sequencing and reanalysis
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 14
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Networking Session: Meet the Experts - Trainee Session
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Cultivating just & equitable genomics research partnerships with community health centers
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Plenary: Troubled Dreams: Genetics, Race, and the Search for Justice in Sickle Cell Disease
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: The Goldilocks Conundrum: Disclosing Discrimination Risks in Informed Consent
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 9
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Networking Session: Late-Breaking Abstracts, June 2, 2022
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Voluntary Genetic Testing in the Workplace: An ELSI Analysis
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Genetic data and the collective good: participants as leaders to reconcile individual and public interest
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Translating Genomic Science: How Genetic Counselors Navigate Ethical and Professional Dilemmas in the 21st Century
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Return of Secondary Genomic Findings: Experiences of Sickle Cell Disease Research Participants
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Participation in Sickle Cell Disease Clinical Research: How the Lived Experience Shapes Altruism
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Engagement with Historically Marginalized Communities: Methods, Positionality and ELSI in Precision Medicine Research
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Why do Primary Care Patients Pursue Genetic Testing as an Elective Clinical Service? Findings from the Sanford Chip Program
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Disrupting the status quo: a new model for benefit sharing in genomics research, a case study from South Africa
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Towards Justice- Race, ELSI, and Imagined Futures
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Provider Practices in Referring for Germline Genetic Testing for Men with Prostate Cancer at a Safety-Net Hospital
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Networking Session: Salt In My Soul: A Panel Discussion of the Documentary
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Is it just for a screening program to give people all the information they want?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 11
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: COVID, Prenatal Genetic Testing, and the Digital Divide: Beyond Technology
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: The Impact of Receipt of Genetic Test Results for Autism
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 10
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: The Limits of Consent and Patterns of Coercion in U.S. Histories of Eugenic Sterilization
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: What Can Intersectionality Bring to ELSI?: Transforming Theory into Practice
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: How and why do researchers use “Ancestry”?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Interrogating the Value of Return: Stakeholders’ Perspectives on Return of Results in Biomedical Research
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Sharing Qualitative Research Data: Addressing the Ethical and Logistical Challenges
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Permeable Membranes: How the blurring of boundaries and merging of silos should reshape ELSI research
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Trainee Networking Session: Working with NHGRI
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Diversity’s Pandemic Distractions
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Exploring Disparities and Equity Across the Newborn Screening System
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Sharing Data: Speedbumps on the Translational Trail
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 6
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Late-Breaking: Victims of Eugenic Sterilization in Utah: Demographics and Survivor Estimate
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Clinician experiences and perspectives on the use of polygenic risk scores in child and adolescent psychiatry
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Development of a Consortium on Best Practices Related to Genomics and Adoption
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Seeking Diverse Inclusion in Bipolar Research: Lessons from a biobank
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 5
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Plenary: Ableism, Audism, Ethics, and Genetics: A Just and Equitable Deaf Future?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Late-Breaking: South Africans’ opinions on human heritable genome editing: Promoting equal access as key to the future
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Child and adolescent psychiatrists’ knowledge, attitudes, and experiences with polygenic risk scores
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Rare Disease, Equity and Justice: Intersecting Disparities Across the Translational Spectrum
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Navigating community engagement in clinical trial research
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Networking Session: Late-Breaking Abstracts, June 1, 2022
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Why Do Patients Drop Out of Population-Based Screening for Hereditary Cancer Risk?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 8
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Mapping Diversity and Equity in Precision Medicine Research: Towards an Ethics of Inclusion
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Networking Session: Ethical Topics Associated with Population Genomic Screening
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 7
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Mandating Diversity in the Context of Inequity: Re-examining the Research-Care Divide in Precision Medicine Research
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 2
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: “Big bioethics” research: Is the ELSI community ready?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Networking Session: Late-Breaking Abstracts - May 31, 2022
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: An ELSI-informed strategy to use DNA data for humanitarian family reunifications
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: When State Laws Conflict: Choice of Law Challenges in Multi-Site Research
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 1
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: What Led to the Abolition of Iowa’s State Eugenics Program in 1977?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: The Biologization of Morality: Criminal Justice as a Matter of Public Health
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Flash Session 1
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Using cost-utility analysis to evaluate the health equity impacts of population genetic screening for BRCA1/BRCA2
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Sociodemographic diversity in clinical genomics research
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Precision medicine for whom? Upstream and downstream exclusion
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: The Individual Genome as a Commons: Getting Genome Conceptualization and Governance Right
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Networking Session: Ethical Aspects of Reproductive Genetic Carrier Screening: Sharing Insights
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Welcome and Keynote: The Fallacy of Biological Race: Systemic Racism in Genomics
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Developing an Evidence Base for Investigative Genetic Genealogy (IGG) Policy-Making
The 5th ELSI Congress - ELSIcon2022 - ELIScon2022 Panel: Polygenic Embryo Screening: Ethical Considerations and Stakeholder Perspectives
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: The Genome and the Biome: Cystic Fibrosis @ Six Feet Apart
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 4
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Beyond the Binary: A Panel Discussion About Gender, Genomics, and Justice
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Listening Session: ELSI and the All of Us Research Program
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Communicating precision medicine research: multidisciplinary teams and diverse communities
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Patients’ and Parents’ Perceived Utility of Genomic Sequencing: Instrument Development and Validation
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 3
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Attitudes toward and actual uptake of genetic testing among a nationally representative sample of middle-to-older aged U.S. adults
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Cancer's Margins: Exploring Trans* Experiences of Hereditary Cancer Risk
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Genetic testing for hereditary cancer risk in India: A Case Study
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: How Did the Biodeterministic View of Criminality Influence Coercive Sterilization in the State of Iowa from 1934 to 1976?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: White racial framing and comfort with medical research: a critical analysis
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Systematic review of recommendations on the use of race, ethnicity and ancestry in the context of genetics research
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: How does Genetics and Racial Disparities influence Stillbirth Risk and Reoccurrence?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Reporting “Clinical Utility” in NICU Sequencing Studies: Systematic Review and Call for Rethinking
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Cystic Fibrosis Communities: Shifting Sites of Prognostic Imagination
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Toward an anthropology of rare disease
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Out of the tower and onto the ground: engaging communities and scientists in emergent research priorities
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: The 'Lived Experience' of Pediatric Gene Therapy - A Scoping Review
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: How useful is genome sequencing to parents of pediatric cancer patients? Findings from the Texas KidsCanSeq Study
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: ELSI and the New Precision Stewards?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Resisting an old vice, or how polygenic risk information can do the most good
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Examining Embeddedness: A Call for Principles and Best Practices for Integrating ELSI
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: What I learned about sequencing from my critically ill daughter
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Physician Perspectives on Polygenic Risk Scores
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: The ELSI of Pandemic Biobanking
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: In the Shadows of Virtual Family Trees
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Revisiting the ethics of secondary findings in diagnostic genome-wide sequencing
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Exploitation in Genetics Research: Vulnerability, Unfairness, and Degradation
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Whose future should we worry about?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: The Perspective on Healthcare Providers on the Return of Secondary Genetic Findings in Africa
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Inequality and Health: Sickle Cell Disease and Food Insecurity during the COVID-19 Pandemic
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Self-Identified Spirituality and Interest in Genetic Testing for Hereditary Cancer Risk
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Family Secrets Revealed: Experiences and impacts of participating in direct-to-consumer genetic relative-finder services
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Population Frequencies of Hereditary Cancer Gene Variants in Diverse Population Groups
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: The Role of Patient Advocacy Groups Following Prenatal Diagnosis of a Genetic Condition
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Informational Disparities in Electronic Health Records: Implications for Delivery of Hereditary Cancer Genetic Services
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Investigating an Ethos of Duty in Precision Medicine Research Calls for Minority Participation
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Shining a light on overlooked questions in ELSI genomics
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Genetic Attribution and Felt Stigma in People with Epilepsy
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Panel: Privacy, Agency, and Relationships in the Genomic Era: Views from the Public
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Community Perspectives on Electronic Consent Education for the Retention of Newborn Screening Bloodspots
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: The definition and handling of genomic data in a digitalized society: A Japanese perspective
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Interest in genetic testing offered as part of routine healthcare among an ethnically diverse sample of young women
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Symbolic Legislation and the Regulation of Stroke Biobanking and Genomics Research in Sub-Saharan Africa
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Genetic Options and Constraints: How Genetic Ancestry Tests Change Ethnic Identities
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Race-Based Genetic Testing: Learning from Black Americans to Inform Policy and Practice
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Conceptualization and Measurement of Genetic Literacy
