Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome. Clinical features include hamartomatous polyps, mucocutaneous pigmentation and an increased predisposition towards developing malignancy. Variants in STK11, a tumour suppressor gene, located on Chromosome 19, predispose to PJS. Peutz-Jeghers Syndrome is associated with increased rates of malignancy, particularly gastrointestinal. However, PJS is also associated with increased gynaecological, testicular and thyroid papillary malignancy. Truncating variants in STK11 are thought to predispose to a more severe phenotype. Phenotype severity is based on earlier onset of gastrointestinal pathology arising from the polyps, such as intussusception or earlier onset malignancy. Missense variants are generally considered less severe than truncating variants. There remain a large number of variants of undetermined significance. Studies have attempted to correlate the location of variants with impact on protein structure and overall severity of the PJS phenotype. The results from these cohort studies have consistently found a non-random distribution of variants. Nevertheless, a consensus on phenotype severity based on variant location is yet to be established. A centralised database that collates all known variants would facilitate the interpretation of these variants, best under the governance of an international disease-specific organisation (InSiGHT). In particular, it could help explore the significance of variants based on their type or location. Understanding the genotype-phenotype link between STK11 variants and PJS could allow more personalised care for PJS patients and their families via appropriate risk stratification and personalised and targeted cancer screening.

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BackgroundNon-technical skills contribute to patient safety and multidisciplinary team performance in acute and complex health care settings. Behavioural frameworks are increasingly being used in health care to teach and evaluate non-technical skills. A framework specific to the maternity aeromedical transfer setting would be highly beneficial, because of the potential impact of non-technical skills on patient outcomes in this highly complex and dynamic clinical setting.MethodsTaking a transformative approach, an existing non-technical skills framework was adapted to the maternity aeromedical transfer setting. Initially, non-technical skills and behavioural markers specific to maternity aeromedical transfer were identified by triangulating data from focus group interviews, field observations, and the literature. Content analysis was used to code and sort data to develop the Non-technical skills in Obstetric Aeromedical Transfers (NOAT) framework. Finally, we evaluated the NOAT prototype for its basic psychometric properties such as feasibility, face validity and content validity by surveying clinicians experienced in maternity aeromedical transfers, direct field observations, and clinical simulation.ResultsThe NOAT framework consists of six main skills categories:Communication with the patient and partner,Task/case management,Teamwork,Situational awareness,Communication with team members,Environment of the cabin.A rating scale can be used to assign numerical values to non-technical skill performance and emphasise the relevance to patient safety. Initial evaluation indicates the basic psychometric properties of NOAT including feasibility of use, content validity and face validity are positive.ConclusionThe NOAT framework identifies specific non-technical skills and their behaviours applied to a maternity aeromedical transfer setting. It has the potential to provide a framework around which teaching, training, and debriefing can be structured. Integration of non-technical skills competency training has the potential to significantly enhance the safety of women being transported in high acuity situations.Key messagesWhat is already known on this topic?➢A validated framework can provide a common language for comprehensively and consistently measuring non-technical skills specific to the clinical setting in which it is applied.What this study adds➢The Non-technical skills in Obstetric Aeromedical Transfers (NOAT) framework provides a valid and reliable system for the application and training of non-technical skills in the highly complex and dynamic maternity aeromedical transfer setting.How this study might affect research, practice or policy➢Applying a non-technical skills framework based on potential patient safety hazards provides an ideal opportunity to promote the safety of pregnant women being transported in high acuity clinical situations.➢The NOAT framework can be used as a reference point for maternity aeromedical transfer teams’ in-service programmes, and for service managers and policy developers to make evidenced-based decisions for organisational enhancements in this clinical setting.