Standards and legacies: Pragmatic constraints on a uniform gene nomenclature

Over the past half-century, there have been concerted efforts to standardize how clinicians and medical researchers refer to genetic material. However, practical and historical impediments thwart this goal. In the current paper I argue that the ontological status of a genetic mutation cannot be cleanly separated from its pragmatic role in therapy. Attempts at standardization fail due to the non-standardized ends to which genetic information is employed, along with historical inertia and unregulated local innovation. These factors prevent rationalistic attempts to ‘modernize’ what is otherwise trumpeted as the most modern of the medical sciences

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

BackgroundPatients 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 methodsThirty 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.ResultsParticipants 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.ConclusionParticipants 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

Home testing for COVID-19: lessons from direct to consumer genetics

This article is made available for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.On March 11th, 2020, COVID-19 was declared a worldwide pandemic. Publicly available testing has lagged, and tech entrepreneurs have quickly volunteered to fill this gap. Over the last two decades, genetic testing ordered outside of a clinic and without the involvement of a physician has been a way for the average individual to get genetic testing. In this commentary, we discuss the lessons learned from this parallel case from genetics and suggest regulatory caution in establishing direct-to-consumer COVID testing

Evidence and Expertise in Genetic Nomenclatures

Clinicians and laboratory scientists use a number of different systems for naming genetic mutations in their daily activities. Based on participant observation at an American academic medical center and interviews with a variety of actors at American hospitals, this paper analyzes the use of these systems. I argue that their distribution corresponds to differences in professional regimes of responsibility. An examination of these often quite complex linguistic items reveals a correlation between the type of components (evidential versus epistemic modifiers) that constitute the names and the presupposed professional role of their intended audiences

The First English Translation of the Ebers Papyrus

Presentation slides for lecture delivered by Colin Halverson, PhD (Faculty Investigator, Indiana University Center for Bioethics) and Jane Hartsock, JD, MA (Director of the Department of Clinical and Organizational Ethics, Indiana University Health) on March 1, 2023. While the Ebers Papyrus is famous as one of the oldest and most complete contemporary perspectives on ancient Egyptian healing practices, little has yet been said about the biography of its first English-language translator, Dr. Carl H. von Klein. Von Klein, a German immigrant and surgeon in the American Midwest, and his linguist daughter Edith Zitelmann spent twenty-some years meticulously translating and annotating the papyrus, but the manuscript was ultimately destroyed. In this talk, Hartsock and Halverson examine the convoluted and dramatic history of the Ebers Papyrus and its “rediscovery” by Edwin Smith, and discuss the equally convoluted and dramatic societal- and personal-scale forces that thwarted von Klein and Zitelmann’s efforts to translate it. Presentation recording available online: [LINK]https://purl.dlib.indiana.edu/iudl/media/019s06b61s[/LINK

A Systematic Literature Review of Individuals\u27 Perspectives on Privacy and Genetic Information in the United States

Concerns about genetic privacy affect individuals\u27 willingness to accept genetic testing in clinical care and to participate in genomics research. To learn what is already known about these views, we conducted a systematic review, which ultimately analyzed 53 studies involving the perspectives of 47,974 participants on real or hypothetical privacy issues related to human genetic data. Bibliographic databases included MEDLINE, Web of Knowledge, and Sociological Abstracts. Three investigators independently screened studies against predetermined criteria and assessed risk of bias. The picture of genetic privacy that emerges from this systematic literature review is complex and riddled with gaps. When asked specifically are you worried about genetic privacy, the general public, patients, and professionals frequently said yes. In many cases, however, that question was posed poorly or only in the most general terms. While many participants expressed concern that genomic and medical information would be revealed to others, respondents frequently seemed to conflate privacy, confidentiality, control, and security. People varied widely in how much control they wanted over the use of data. They were more concerned about use by employers, insurers, and the government than they were about researchers and commercial entities. In addition, people are often willing to give up some privacy to obtain other goods. Importantly, little attention was paid to understanding the factor-sociocultural, relational, and media - that influence people\u27s opinions and decisions. Future investigations should explore in greater depth which concerns about genetic privacy are most salient to people and the social forces and contexts that influence those perceptions. It is also critical to identify the social practices that will make the collection and use of these data more trustworthy for participants as well as to identify the circumstances that lead people to set aside worries and decide to participate in research

Patients’ views on variants of uncertain significance across indications

As genomic sequencing expands into more areas of patient care, an increasing number of patients learn of the variants of uncertain significance (VUSs) that they carry. Understanding the potential psychosocial consequences of the disclosure of a VUS can help inform pre- and post-test counseling discussions. Medical uncertainty in general elicits a variety of responses from patients, particularly in the growing field of medical genetics and genomics. It is important to consider patients’ responses to the ambiguous nature of VUSs across different indications and situational contexts. Genetic counselors and other providers ordering genetic testing should be prepared for the possibility of their patients’ misinterpretation of such results. Pre-test counseling should include a discussion of the possibility of VUSs and what it would mean for the patient’s care and its potential psychosocial impacts. When a VUS is found, post-test counseling should include additional education and a discussion of the variant’s implications and medical management recommendations based on the results. These discussions may help temper subjective interpretations, unrealistic views, and decisional regret

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

Evidence for He I 10830 \AA~ absorption during the transit of a warm Neptune around the M-dwarf GJ 3470 with the Habitable-zone Planet Finder

Understanding the dynamics and kinematics of out-flowing atmospheres of hot and warm exoplanets is crucial to understanding the origins and evolutionary history of the exoplanets near the evaporation desert. Recently, ground based measurements of the meta-stable Helium atom's resonant absorption at 10830 \AA~has become a powerful probe of the base environment which is driving the outflow of exoplanet atmospheres. We report evidence for the He I 10830 \AA~in absorption (equivalent width $\sim$ $0.012 \pm 0.002$ \AA) in the exosphere of a warm Neptune orbiting the M-dwarf GJ 3470, during three transits using the Habitable Zone Planet Finder (HPF) near infrared spectrograph. This marks the first reported evidence for He I 10830 \AA\, atmospheric absorption for a planet orbiting an M-dwarf. Our detected absorption is broad and its blueshifted wing extends to -36 km/sec, the largest reported in the literature to date. We modelled the state of Helium atoms in the exosphere of GJ3470b based on assumptions on the UV and X-ray flux of GJ 3470, and found our measurement of flux-weighted column density of meta-stable state Helium $(N_{He^2_3S} = 2.4 \times 10^{10} \mathrm{cm^{-2}})$, derived from our transit observations, to be consistent with model, within its uncertainties. The methodology developed here will be useful to study and constrain the atmospheric outflow models of other exoplanets like GJ 3470b which are near the edge of the evaporation desert.Comment: Accepted in Ap

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