Clinical medicine (London, England)
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The expansion of new forms of public media, including social media, exposes clinicians to more illness experiences/narratives than ever before and increases the range of ways to interact with the people depicted. Existing professional regulations and ethics codes offer very limited guidance for such situations. We discuss the ethics of responding to such scenarios through presenting three cases of clinicians encountering television or social media stories involving potential unmet healthcare needs. We offer a structured framework for health workers to think through their responses to such situations, based around four key questions for the clinician to deliberate upon: who is vulnerable to harm; what can be done; who is best placed to do it; and what could go wrong? We illustrate the application of this framework to our three cases.
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Inherited metabolic disorders (IMDs) are debilitating inherited diseases, with phenotypic, biochemical and genetic heterogeneity, frequently leading to prolonged diagnostic odysseys. Mitochondrial disorders represent one of the most severe classes of IMDs, wherein defects in >350 genes lead to multi-system disease. Diagnostic rates have improved considerably following the adoption of next-generation sequencing (NGS) technologies, but are still far from perfect. ⋯ To test whether phenomic correlations have utility in mitochondrial disease and IMDs, we created a gene-to-phenotype interaction network with searchable elements, for Leigh syndrome, a frequently observed paediatric mitochondrial disorder. The Leigh Map comprises data on 92 genes and 275 phenotypes standardised in human phenotype ontology terms, with 80% predictive accuracy. This commentary highlights the usefulness of the Leigh Map and similar resources and the challenges associated with integrating phenomic technologies into clinical practice.