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ObjectivesTo examine how clinicians’ scepticism regarding patients’ self-reports of subjective symptoms can be internalised, leading to psychosocial and medical harms.DesignIn-depth, semi-structured qualitative interviews with the resulting data analysed using reflexive thematic analysis.Participants43 individuals with Ehlers-Danlos syndrome (EDS) from Europe and North America completed a pre-survey, and 39 of those participants completed interviews for this study. Purposive sampling was used to obtain approximately equal numbers of participants with hypermobile EDS and the molecularly defined types of EDS.ResultsPatients with both hypermobile and molecularly defined types of EDS reported high levels of self-doubt, with 73% of survey respondents questioning the extent—and even reality—of their private experiences of pain. Participants attributed much of their self-doubt to repeated dismissal and minimisation of their symptoms in healthcare settings, especially during childhood. Ultimately, self-doubt transformed not merely how they communicated their symptoms but also how they recognised, evaluated and even experienced them at a phenomenological level. While some participants developed coping strategies, others withdrew from the conventional medical system altogether.ConclusionThese findings have important implications for clinicians, who may inadvertently reinforce self-doubt through discussion of diagnostic uncertainty. Doubt need not be delegitamising. Recognising and mitigating these potential harms requires epistemic humility and attention to the psychosocial dynamics of patient-provider interaction.

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.

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.

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. We conducted in-depth, semistructured interviews with study personnel of the eMERGE-III Consortium sites that returned 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. 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.

Background Patients with uncommon genetic conditions often face limited in‐person resources for social and informational support. Hypermobile Ehlers–Danlos syndrome (hEDS) is a rare or underdiagnosed hereditary disorder of the connective tissue, and like those with similar diseases, patients with hEDS have begun to turn to social media in search of care and community. The aims of our study were to understand the usage habits and perceptions of utility of social media use for patients with hEDS in order to formulate suggestions for how clinicians may best engage these and similar patient populations about this topic. Methods We conducted both a quantitative survey and qualitative interviews with patients who had received a robust clinical diagnosis of hEDS. Results Twenty‐four individuals completed the initial survey, and a subset of 21 of those participants completed an interview. Through thematic analysis, we identified four primary themes related to their experience with social media: (1) befriending others with their disease, (2) seeking and vetting information, (3) the risks and downsides of social media use, and (4) the desire for clinicians to discuss this topic with them. Conclusion We conclude by proposing five suggestions that emerge empirically from our data. These proposals will help clinicians engage their patients regarding social media use in order to promote its potential benefits and circumvent its potential harms as they pursue support for their hereditary condition.

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. 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. Participants described massage therapy ( = 21), medical cannabis ( = 12), and mindfulness ( = 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. 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.

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. Little is known about the impact of reclassification on patients’ perception of medical uncertainty or trust in genetics‐based clinical care. 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.

IntroductionBiobank-based research is growing in importance. A major controversy exists about the return of aggregate and individual research results.MethodsThe 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.ResultsThe 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.DiscussionParticipant attitudes are in tension with current biobank policies. An intensive educational effort had no effect on their attitudes.

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.