Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life‐threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+ cases. Here, we analyzed clinical exome sequencing data and data from the DECIPHER database to determine the efficacy of exome sequencing in cases of EA/TEF+ and to identify phenotypic expansions involving EA/TEF. Among 67 individuals with EA/TEF+ referred for clinical exome sequencing, a definitive or probable diagnosis was made in 11 cases for an efficacy rate of 16% (11/67). This efficacy rate is significantly lower than that reported for other major birth defects, suggesting that polygenic, multifactorial, epigenetic, and/or environmental factors may play a particularly important role in EA/TEF pathogenesis. Our cohort included individuals with pathogenic or likely pathogenic variants that affect TCF4 and its downstream target NRXN1, and FANCA, FANCB, and FANCC, which are associated with Fanconi anemia. These cases, previously published case reports, and comparisons to other EA/TEF genes made using a machine learning algorithm, provide evidence in support of a potential pathogenic role for these genes in the development of EA/TEF.
Between 2020-21, BAPIO through its arms length Institute for Health Research (BIHR) and partners in the Alliance for Equality for Healthcare Professions, undertook a comprehensive, thematic synthesis of differential attainment as affecting the lifecycle of a health professional from entry to exit in the profession. This was followed by a series of consensus building workshops involving the triumvirate of grassroots professionals, their representative organisations, stakeholder agencies and academics. The consensus recommendations were published in 2021, as the Bridging the Gap 2021 report. One of the six domains in this report consisted of recommendations relating to professionalism and fitness to practise for the regulator and employing organisations. The report also provided a deep understanding of the onboarding, acculturation and differential treatment of international medical graduates, who make up approximately 40% of doctors and 1 in 5 of the UK healthcare workforce. The report acknowledged the overwhelming inherent existence of ubiquitous institutional bias and incivility, its impact on the health and wellbeing of the workforce, hindrance of workforce development from the failure to recognise diversity and ultimate impact on patients that are at the centre of everything that healthcare professionals stand for. The GMP guidance from the GMC UK aspires to describe and embody the letter and spirit of the values and behaviours that define the professionalism expected from doctors in the UK. The medical professionals (doctors and Physician associates) are required to provide evidence against domains of GMP during yearly appraisals and the five-year revalidation to continue to hold the licence to practise in the UK. The GMP thereby serves as a framework against which to determine if a regulated professional has deviated significantly from the expected high standards of professionalism. Therefore, GMP is routinely referenced by the public, employing organisations and by the GMC UK, when doctors are referred to the regulator for appropriate investigation and possible sanctions. Although the GMC UK is often at pains to point out that GMP is not a set of rules, however, as any practising doctor will be aware, especially those at the sharp end of the GMC’s disciplining arm, the Medical Practitioners Tribunal Service, GMP is often the standard that determines whether or not a registered doctor has deviated away from what is expected of them. However, there is growing evidence that the GMP, in its current format, fails to properly reflect diversity amongst the medical profession and patients nor demonstrate sensitivity to the interpretation of values or behaviours through the lens of culture or diversity intelligence. The GMP does not take into account the shared responsibility and collaborative healthcare in multi-professional teams. The GMP does not sufficiently reflect that doctors are working in and for large organisations, where those in leadership and management positions must have accountability. The leaders are responsible for developing and creating functioning teams, provide the optimum working environment, with the tools to perform their intended roles (education and training) and be held accountable for delivering on the requirements of equality, diversity, inclusion and fairness for all patients and professionals, as reinforced by the NHS Constitution and the Equality Act 2010. The resulting unfairness in how healthcare organisations treat regulated professionals, in particular doctors and the differential referral to the regulator is in part due to the format and content of the current GMP, which embodies a set of standards conceived and crafted more than a decade ago, and therefore appears to be significantly outdated in transforming the modern, diverse healthcare landscape. In this workshop, doctors from across the profession worked with psychologists and academics in reviewing the GMC UK’s redraft of the GMP. In doing so, they suggested amendments and inclusions necessary, so that the proposed GMP 2022, demonstrates progress to a culture of fairness, social justice, diversity and inclusion. The recommended amendments and inclusions to the GMP from this workshop are presented under three broad themes: 1) working with colleagues, 2) working with patients and for those 3) doctors in leadership or management positions. The workshop participants reflected the perception that the GMP appeared to overtly support people in authority, and is open to be interpreted pejoratively and utilised for punitive action, to thereby provide grounds for deviating from the aspiration of a ‘blameless culture of learning’ that is the hallmark of a modern organisation. That the proposed GMP did not reflect the diversity of the medical professionals nor their patients and therefore needed to be more explicit and unequivocal in every section in order to achieve dignity, respect and value to embed equality, diversity and inclusion in the profession and in healthcare. The workshop recommended that Responsible Officers and the regulator demonstrate robustly and transparently in their processes - fairness, diversity intelligence, accountability and an independent assessment of the impact of their referrals/decisions on the morale, wellbeing of the regulated professionals. This paper summarises the extensive discussions and presents the amendments that will aid the architects of the new GMP to truly address the palpable shortcomings of the current GMP. The recommendations take into account modern societal transformation, the healthcare space that doctors function within, reflects the considerable diversity of our communities and professionals. This paper offers an opportunity to capture the wide-ranging views from the profession and academics to help right the many wrongs that have plagued the relationship of the regulator with the medical profession. The workshop acknowledged the efforts of the GMC UK and its outreach ambassador in actively seeking out contributions from voluntary professional organisations and their vast membership in helping shape the new GMP, which we hope will be fit for a modern, post-pandemic just society in the UK and serve as an exemplar for the standards expected from the profession, across the globe.
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