Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region.

BACKGROUND: The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patient population requires multidisciplinary care, but appropriate centers for such care do not exist in large portions of the country. Need for more integrated services has been identified in Chicagoland, or Chicago and its suburbs. In order to explore and begin to address barriers to seeking appropriate care facing EDS patients in this region, we developed an online survey which we circulated through EDS social media groups for Chicagoland patients. RESULTS: Three hundred and nine unique respondents participated. We found that there exists a strong medical need for and interest in the development of a center in the region, and participants reported that, if made available to them, they would make extensive and regular use of such a facility. CONCLUSIONS: We conclude that the establishment of a collaborative medical center specializing in the diagnosis and treatment of EDS, Hypermobility Spectrum Disorder, and related disorders in the Chicagoland area would greatly benefit patients by providing comprehensive care, alleviate the burden on overworked healthcare providers, and contribute to the sustainability of medical facilities.

Lost in translation: the history of the Ebers Papyrus and Dr. Carl H. von Klein.

While the Ebers Papyrus is understood to be one of the oldest and most complete contemporaneous perspectives on Ancient Egyptian healing practices, nothing has yet been said about the biography of its first English-language translator, Dr. Carl H. von Klein. A German immigrant and surgeon in the American Midwest, von Klein spent twenty-some years meticulously translating and annotating the Papyrus, but ultimately his manuscript was destroyed. In this paper, we examine the societal- and personal-scale forces that thwarted his efforts to transform our understanding of the history of medicine.

Patient understanding of pharmacogenomic test results in clinical care.

OBJECTIVE: Previous research has not objectively assessed patients' comprehension of their pharmacogenomic test results. In this study we assessed understanding of patients who had undergone cytochrome P450 2C19 (CYP2C19) pharmacogenomic testing. METHODS: 31 semi-structured interviews with patients who underwent CYP2C19 testing after cardiac catheterization and had been sent a brochure, letter, and wallet card explaining their results. Answers to Likert and binary questions were summarized with descriptive statistics. Qualitative data were analyzed using a grounded theory approach, with particular focus on categorization. RESULTS: No participants knew the name of the gene tested or their metabolizer status. Seven participants (23%) knew whether the testing identified any medications that would have lower effectiveness or increased adverse effects for them at standard doses ("Adequate Understanding"). Four participants (13%) read their results from the letter or wallet card they received but had no independent understanding ("Reliant on Written Materials"). Ten participants remembered receiving the written materials (32%). CONCLUSION: A majority of participants who had undergone CYP2C19 PGx testing did not understand their results at even a minimal level and would be unable to communicate them to future providers. PRACTICE IMPLICATIONS: Further research is necessary to improve patient understanding of PGx testing and their results, potentially through improving patient-provider communication.

Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes.

Patients with hypermobile Ehlers Danlos Syndrome often experience psychological distress resulting from the perceived hostility and disinterest of their clinicians. We conducted 26 in-depth interviews with patients to understand the origins of this trauma and how it could be addressed in practice. We found that the cumulative effects of numerous negative encounters lead patients to lose trust in their healthcare providers and the healthcare system, and to develop acute anxiety about returning to clinic to seek further care. We describe this as clinician-associated traumatization. Ultimately, our interviewees described the result of this traumatization as worse - but preventable - health outcomes.

Content Analysis of Emoji and Emoticon Use in Clinical Texting Systems.

Importance: Emoji and emoticons are quickly becoming an omnipresent feature of virtual communication. As health care systems increasingly adopt clinical texting applications, it is critical to understand how clinicians use these ideograms with colleagues and how it may affect their interactions. Objective: To evaluate the functions that emoji and emoticons serve in clinical text messages. Design, Setting, and Participants: This qualitative study's content analysis of clinical text messages from a secure clinical messaging platform was conducted to assess the communicative function of emoji and emoticons. The analysis included messages sent by hospitalists to other health care clinicians. A subset of a random 1% sample of all message threads, which included at least 1 emoji or emoticon, on a clinical texting system used by a large, Midwestern US hospital from July 2020 until March 2021 were analyzed. A total of 80 hospitalists participated in the candidate threads. Main Outcomes: Whether and what kind of emoji or emoticon was deployed in each reviewed thread was tabulated by the study team. The communicative function of each emoji and emoticon was assessed according to a prespecified coding scheme. Results: A total of 80 hospitalists (49 [61%] male; 30 [37%] Asian, 5 [6%] Black or African American, 2 [3%] Hispanic or Latinx, 42 [53%] White; of 41 with age data, 13 [32%] aged 25-34 years, 19 [46%] aged 35-44 years) participated in the 1319 candidate threads. Within the sample of 1319 threads, 7% of threads (155 unique messages) contained at least 1 emoji or emoticon. The majority (94 [61%]) functioned emotively, that is, conveyed the internal state of the sender, and 49 (32%) served to open, maintain, or close communication. No evidence was identified that they caused confusion or were seen as inappropriate. Conclusions and Relevance: This qualitative study found that when clinicians use emoji and emoticons in secure clinical texting systems, these symbols function primarily to convey new and interactionally salient information. These results suggest that concerns about the professionalism of emoji and emoticon use may be unwarranted.

Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care.

Rare genetic diseases collectively impact millions of individuals in the United States. These patients and their families share many challenges including delayed diagnosis, lack of knowledgeable providers, and limited economic incentives to develop new therapies for small patient groups. As such, rare disease patients and families often must rely on advocacy, including both self-advocacy to access clinical care and public advocacy to advance research. However, these demands raise serious concerns for equity, as both care and research for a given disease can depend on the education, financial resources, and social capital available to the patients in a given community. In this article, we utilize three case examples to illustrate ethical challenges at the intersection of rare diseases, advocacy and justice, including how reliance on advocacy in rare disease may drive unintended consequences for equity. We conclude with a discussion of opportunities for diverse stakeholders to begin to address these challenges.

Patients' strategies for numeric pain assessment: a qualitative interview study of individuals with hypermobile Ehlers-Danlos Syndrome.

PURPOSE: Chronic pain is a common feature of hypermobile Ehlers-Danlos Syndrome (hEDS), yet how patients assess and communicate their pain remains poorly understood. The objective of the present study was to explore the use of numeric pain assessment in individuals with hEDS, from a patient-centered perspective. MATERIALS AND METHODS: Our analysis is based on in-depth qualitative interviews. The interviews were conducted over the phone. Our participants were patients living with hEDS (N = 35). Interviews were recorded, transcribed, and analyzed to identify factors related to their use of these pain assessment instruments. RESULTS: Three primary themes emerged from these data, namely, (1) confusion around the quantification of multidimensional pain, (2) the subjectivity of pain experience, and (3) a strategic use of assessments for practical purposes beyond the accurate representation of pain.These results demonstrate the need for caution in relying exclusively on numeric pain assessment instruments. We conclude with a brief proposal for a clinical communication strategy that may help to address the limitations of numeric pain assessment that were identified in our interviews.

Chronic pain is a common feature of hypermobile Ehlers­Danlos Syndrome (hEDS), yet how patients assess and communicate their pain remains poorly understood.Clinicians should be aware that patients have difficulties with the Numeric Rating Scale (NRS) for at least three reasons: (1) confusion around the quantification of multidimensional pain, (2) the subjectivity of pain experience, and (3) a strategic use of assessments for practical purposes beyond the accurate representation of pain.Clinicians should use caution in relying exclusively on NRS instruments.Clinicians may benefit from using clinical communication strategies outlined in our paper, which may help to address the limitations of the NRS that were identified in our interviews.

Genetic Essentialism and Social Warranting.

Genetic essentialism is the notion that genes can reveal to us the core of what it means to be humans and individuals, that our genes are the ultimate source of who we are and who we have been and will be. A recent collection of articles in a special issue of the Hastings Center Report describes the current standing of this term as embattled and potentially oversold but not necessarily without merit. This article highlights particularly valuable insights from the special issue and provides a novel insight into the movement of genetic essentialist attitudes into historically separate domains of medical knowledge-making, or the "social warranting" of genetic epistemology. More research into the role of medical genetics in transforming other medical epistemologies is needed.

Use of complementary and alternative medicine by patients with hypermobile Ehlers-Danlos Syndrome: A qualitative study.

Background: Patients with hypermobile Ehlers-Danlos Syndrome (hEDS) often make use of complementary and alternative medical (CAM) techniques to manage their chronic pain and other symptoms. Nevertheless, how they use CAM, which techniques they favor, and how CAM use affects their allopathic care remain unclear. The purpose of this qualitative study was to understand patients' personal experiences with CAM and its role in their symptom management. Materials and methods: Thirty individuals living with hEDS completed a brief online survey related to their CAM use. Thereafter, in-depth interviews were conducted with 24 of the survey respondents, qualitatively investigating their experiences with CAM. Data were analyzed using thematic analysis. Results: Participants described massage therapy (N = 21), medical cannabis (N = 12), and mindfulness (N = 13) as some of the most useful CAM modalities for managing symptoms related to hEDS, but they expressed a general interest in pursuing any treatment that could potentially reduce their chronic pain. They suggested an overall trust in CAM modalities and practitioners and ascribed greater empathy to CAM practitioners than to conventional medical providers. However, they also described a critical skepticism of CAM (and conventional) therapies and recounted instances of injury from such treatments. Conclusion: Participants made extensive use of CAM therapies. They described both critical benefits as well as harms from the use of these non-conventional modalities. These results underscore the importance of clinicians maintaining communicative and compassionate relationships with their patients, and of an openness to the discussion and use of CAM treatments.

Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics.

Improvements in technology used for genetic testing have yielded an increased numbers of variants that are identified, each with a potential to return uninformative results. While some genetics providers may expect patients to be responsible for staying abreast of updates to their genetic testing results, it is unknown whether patients are even aware of the possibility of variant reclassification. Little research has assessed the comprehension and attitudes of parents of pediatric patients regarding reclassification of variants of uncertain significance (VUS). Semi-structured telephone interviews were conducted with parents (n = 15) whose children received a VUS from genetic testing in either the pediatric neurogenetics or developmental pediatrics clinics at Riley Hospital for Children in Indianapolis, Indiana. Most participants expressed understanding of the uncertainty surrounding their child's VUS test result. However, nearly half of participants shared that they had no prior knowledge of its potential reclassification. When asked whose responsibility it is to keep informed about changes to their child's VUS status, some participants stated that it belonged solely to healthcare providers - a distinctive finding of our study - whereas others felt that it was a joint responsibility between providers and the parents. We additionally found that some patients desire a support group for individuals with VUS. These results provide insight into the importance of pretest genetic counseling and the need for increased social and informational support for parents of children who receive inconclusive genetic testing results. We conclude that relying solely on the patient or guardian to manage uncertain results may be insufficient.

Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience.

PURPOSE: The Electronic Medical Records and Genomics (eMERGE) Consortium integrated biorepository-based research with electronic health records (EHR) to return results from large-scale genetic tests to participants and uploaded those data into the EHR. This article explores the ethical issues investigators encountered in that process. METHODS: We conducted in-depth, semistructured interviews with study personnel of the eMERGE-III Consortium sites that returned results. RESULTS: We discuss major ethical issues that arose while attempting to return research results from the eMERGE Consortium to individual participants. These included difficulties recontacting those participants who had not explicitly consented to such and disclosing results to many participants with insufficient infrastructure and staff. Investigators reported being driven by a supererogatory clinical impulse. CONCLUSION: All these issues ultimately derive from ethical conflicts inherent to translational work being done at the interface of research and clinical care. A critical rethinking of this divide is important, but infrastructural support for such work is necessary for an ethically sound rollout of large-scale genetic testing.

Patient perspectives on variant reclassification after cancer susceptibility testing.

BACKGROUND: Little is known about the impact of reclassification on patients' perception of medical uncertainty or trust in genetics-based clinical care. METHODS: Semistructured telephone interviews were conducted with 20 patients who had received a reclassified genetic test result related to hereditary cancer. All participants had undergone genetic counseling and testing for cancer susceptibility at Vanderbilt-Ingram Cancer Center Hereditary Cancer Clinic within the last six years. RESULTS: Most of the participants did not express distress related to the variant reclassification and only a minority expressed a decrease in trust in medical genetics. However, recall of the new interpretation was limited, even though all participants were recontacted by letter, phone, or clinic visit. CONCLUSION: Reclassification of genetic tests is an important issue in modern healthcare because changes in interpretation have the potential to alter previously recommended management. Participants in this study did not express strong feelings of mistrust or doubt about their genetic evaluation. However, there was a low level of comprehension and information retention related to the updated report. Future research can build on this study to improve communication with patients about their reclassified results.

Patients' willingness to reconsider cancer genetic testing after initially declining: Mention it again.

Patients at risk for hereditary cancer syndromes sometimes decline clinically appropriate genetic testing. The purpose of the current study was to understand what preferences, concerns, and desires informed their refusal as well as their current level of interest in being tested. We interviewed patients who had been seen in a hereditary cancer clinic at Vanderbilt University Medical Center and had declined genetic testing. In all, 21 in-depth, semi-structured qualitative interviews were conducted. Although patients provided many reasons for declining testing, they most often cited their psychosocial state at the time of the initial invitation to participate in genetic testing as their reason for refusal. The majority (67%) said that they either would or had changed their mind about testing if/when their clinicians 'mentioned it again'. Patients at risk for hereditary cancer who refuse testing at the time of genetic counseling may later change their mind. In particular, if a patient declines testing around the time of a major medical diagnosis or intervention, clinicians who are providing ongoing care may want to raise the topic afresh after the patient has had time to recover from initial distress related to diagnosis or treatment. Strategies to prompt clinicians to have these conversations are suggested.

Unspoken ambivalence in kinship obligation in living donation.

BACKGROUND: Traditionally, living kidney donors were first-degree relatives due to both greater biological compatibility and concerns about extrafamilial motivation. Because familial relationships often entail distinctive experiences of moral obligation, health-care providers must be attentive to potential undue influences on intrafamilial donor decision-making processes to ensure that decisions are voluntary. METHODS: Qualitative interviews were conducted with 20 individuals who donated kidneys to first-degree relatives and subsequently developed end-stage renal disease themselves. FINDINGS: We analyze the different influences kinship obligations had on participants' decision-making processes. Although participants described their decision to donate as obvious, an appropriate kin response, and free from external pressure, they indirectly expressed some ambivalence-both by their description of the rapidity of the process and in their concern about exposing an intimate to the risks of living donation. DISCUSSION: Our data uncovered an asymmetry. Although our participants claimed that they would donate again, none received a living donor kidney. Our data also highlight the moral significance of the interdependence of donor and recipient in intrafamilial kidney donation and its impact on the range of voluntary choices as perceived by the donor. Their decision-making must be understood as embedded within a network of intimate social relations.

Living Kidney Donors Who Develop Kidney Failure: Excerpts of Their Thoughts.

BACKGROUND: Psychosocial data about living kidney donors have been collected for almost 5 decades now. To date, however, no study has provided any psychosocial follow-up of donors who developed a serious health problem such as end-stage renal disease (ESRD). METHODS: Donors who developed ESRD were invited to participate in a qualitative interview if they met one or both of the inclusion criteria: (1) developed ESRD within 10 years of donating and/or (2) lacked health insurance at the time of donation. We contacted 38 individuals who met these criteria, and 22 participated (58%). Two were subsequently excluded from analysis. RESULTS: Twenty qualitative interviews were analyzed. Five findings are described: (1) donors describe the decision-making process as spontaneous and fast; (2) donors describe lack of appreciation for the need for post-donation self-care; (3) donors do not regret donating despite the adverse outcome; (4) donors advise future donors to have in place emotional and physical support post donation; and (5) donors appreciate the opportunity to tell their story from being a living donor to living with ESRD, which virtually all perceive as 2 separate unrelated events. CONCLUSIONS: Most donors are positive about their donation decision and experience and would donate again, despite developing ESRD themselves. They propose some important changes to the decision-making and informed-consent processes. Our data are reassuring regarding lack of donor regret, but highlight the need for living donor transplant programs to ensure that living donors understand their long-term risks and receive appropriate life-long follow-up care to minimize these risks.

Patients' views on incidental findings from clinical exome sequencing.

This article characterizes the opinions of patients and family members of patients undergoing clinical genomic-based testing regarding the return of incidental findings from these tests. Over sixteen months, we conducted 55 in-depth interviews with individuals to explore their preferences regarding which types of results they would like returned to them. Responses indicate a diversity of attitudes toward the return of incidental findings and a diversity of justifications for those attitudes. The majority of participants also described an imperative to include the patient in deciding which results to return rather than having universal, predetermined rules governing results disclosure. The results demonstrate the importance of a patient centered-approach to returning incidental findings.

Attitudes of African-American parents about biobank participation and return of results for themselves and their children.

INTRODUCTION: Biobank-based research is growing in importance. A major controversy exists about the return of aggregate and individual research results. METHODS: The authors used a mixed-method approach in order to study parents' attitudes towards the return of research results regarding themselves and their children. Participants attended four 2-h, deliberative-engagement sessions held on two consecutive Saturdays. Each session consisted of an educational presentation followed by focus-group discussions with structured questions and prompts. This manuscript examines discussions from the second Saturday which focused on the benefits and risks of returning aggregate and individual research results regarding both adults (morning session) and children (afternoon session). Attitudes were assessed in pre-engagement and post-engagement surveys. RESULTS: The authors recruited 45 African-American adults whose children received medical care at two healthcare facilities on the South Side of Chicago that serve different socioeconomic communities. Three dominant themes were identified. First, most participants stated that they would enrol themselves and their children in a biobank, although there was a vocal minority opposed to enrolling children, particularly children unable to participate in the consent process. Second, participants did not distinguish between the results they wanted to receive regarding themselves and their children. Supplemental survey data found no attitudinal changes pre-engagement and post-engagement. Third, participants believed that children should be allowed access to their health information, but they wanted to be involved in deciding when and how the information was shared. DISCUSSION: Participant attitudes are in tension with current biobank policies. An intensive educational effort had no effect on their attitudes.

Incidental findings of therapeutic misconception in biobank-based research.

PURPOSE: This article explores expressions of therapeutic misconception (TM) in a deliberative-engagement project focused on the return of aggregate and individual genetic results from biobank-based research. METHODS: We enrolled 45 self-described African Americans in a deliberative-engagement project to explore their attitudes regarding the return of results from biobank-based research. Four groups of individuals participated in four sessions over 2 days that included both educational and focus-group components. RESULTS: TM was expressed by individuals from both clinics on each day that they met. Three main typological categories of TM were noted: (i) the reasons for consenting to participate in a biobank, (ii) the conflation of research with clinical care, and (iii) mistrust about the meaning of biomedical research findings. CONCLUSION: Although trust may explain why some research participants express TM, it was also fueled by mistrust (e.g., a disbelief that a condition described as untreatable was truly untreatable). We also found that TM is not due solely to research participants' misunderstandings but is a bidirectional phenomenon that can be exacerbated by researchers. This finding raises questions about how to engage prospective research participants in the long-term goals of biobank-based research without unintentionally overstating possible short-term clinical benefits.