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Introduction: The Covid-19 pandemic in the United Kingdom has seen two waves; the first starting in March 2020 and the second in late October 2020. It is not known whether outcomes were different in the first and second waves. Methods: The study population comprised all patients admitted to a 1,500-bed London Hospital Trust between March 2020 and January 2021, who tested positive for Covid-19 by PCR within 3-days of admissions. Primary outcome was death within 28-days of admission. Socio-demographics (age, sex, ethnicity), hypertension, diabetes, obesity, baseline physiological observations, CRP, neutrophil, chest x-ray abnormality, remdesivir and dexamethasone were incorporated as co-variates. Proportional subhazards models compared mortality risk between wave 1 and wave 2. Cox-proportional hazard model with propensity score adjustment were used to compare mortality in patients prescribed remdesivir and dexamethasone. Findings: There were 3,457 COVID-19 admissions, 2,494 hospital discharges and 619 deaths. There were notable differences in age, ethnicity, comorbidities, and admission disease severity between wave 1 and wave 2. Twenty-eight-day mortality was higher during wave 1 (25.7% versus 13.2%). Mortality risk adjusted for co-variates was significantly lower in wave 2 compared to wave 1 [adjSHR 0.41(0.30, 0.56)p

Medulloblastoma tumours may arise sporadically or as part of an inherited syndrome. A subset of children with medulloblastoma carry germline and somatic mutations in the SUFU tumour suppressor gene located at 10q24. We report a 55 year old woman referred for investigation on the basis of skin lesions and a family history of two children from different unions with medulloblastoma. Examination of our patient revealed facial papules (classified as benign folliculosebaceous hamartomatous lesions) and dysmorphology (macrocephaly, hypertelorism and prognathism). She reported her father and her son share the same dermatological features; photographs of the son display hypertelorism. Sequencing in our patient revealed a splice-site mutation in intron 6 of SUFU (c. 756+1G>A), predicted to lead to skipping of exon 6. We suggest that the emerging phenotype in SUFU associated with familial medulloblastoma may include hamartomatous skin lesions. Consideration of these features, along with macrocephaly will alert clinicians to the likely genetic basis of the syndrome, affording the opportunity for genetic counselling, prenatal or pre-implantation genetic diagnosis in at-risk families.

Interdisciplinary teams are increasingly common in healthcare as a means of improving patient care and there is consensus in the literature that a formalized framework of interdisciplinary education for health professionals is an advantageous means of professional development. To our knowledge no such application to genetic counseling has been reported. Prompted by limited direct exposure to the oncology processes discussed during genetic counseling sessions, two genetic counselors completed an interdisciplinary education exercise by observing various oncology settings. As intended we gained a deeper understanding of the: (1) Roles of other health professionals within the oncology interdisciplinary team, (2) Patient experience of cancer screening and treatment, and (3) Clinical processes relevant to cancer genetic counselors' discussions. In addition, further benefits resulted from (4) Insight into how patients and referring providers utilize the FCC within wider oncology care and (5) Strengthening of relationships between the FCC and other oncology-related teams. The observation experience and resulting learnings are described in this paper. To investigate wider application of this novel initiative, a survey of Australasian genetic counselors was conducted, finding that genetic counselors mostly source knowledge about oncology procedures through indirect means and that, overall, anecdotal descriptions from patients were the most common information source (74 %). Over 95 % of respondents expected that interdisciplinary observations would be a beneficial part of their professional development and almost 90 % expected the program to be potentially feasible in their workplace. These findings indicate there is a role for interdisciplinary education to be considered as a formal continual learning tool for genetic counselors.

Reports of the coexistence of pituitary adenomas and pheochromocytoma/paraganglioma are uncommon. Recently germline mutations in 2 of the genes encoding succinate dehydrogenase, SDHC and SDHD, were associated with pituitary tumors.Our aim was to determine whether the development of a pituitary adenoma was associated with SDHA mutation.A 46-year-old female presented with carotid body paraganglioma (proband). Subsequently the proband's son was diagnosed with a nonfunctioning pituitary macroadenoma at age 30 years.An immunohistochemical analysis of the resected paraganglioma and pituitary adenoma revealed the loss of succinate dehydrogenase subunit B and succinate dehydrogenase subunit A (SDHA) expression in both tumors, with the preservation of staining in nonneoplastic tissue. Mutation analysis showed a novel SDHA mutation (c.1873CT, p.His625Tyr) in the germline of the proband as well as in the proband's son. In the paraganglioma of the proband, in addition to the germline mutation, a somatic mutation was observed (c.1865GA, p.Trp622*). In the pituitary adenoma of the proband's son, loss of SDHA immunoreactivity was paradoxically accompanied by loss of the mutant allele.This is the first report of a pituitary adenoma arising in the setting of germline SDHA mutation. The loss of SDHA protein expression in both the paraganglioma (proband) and pituitary adenoma (proband's son) argues strongly for a causative role of SDHA mutation. This report further strengthens the link between pituitary neoplasia and germline SDH mutation. Although pituitary adenomas appear rare among patients carrying SDH subunit mutations, they may have been underrecognized due to the low penetrance of disease and lack of systematic surveillance.

A model for practising genetic counselors to obtain clinical supervision via reciprocal peer observation and feedback was developed and trialled. The model was developed in response to a perceived lack of opportunity for immediate observational feedback for practising genetic counselors. The aims reached by consensus were to facilitate learning new approaches and skills, to revitalise current ways of practising, and to enhance supervision skills in a two-way process, where the observer learnt from the counselor, and vice-versa. The genetic counselors agreed on a process of paired reciprocal observation whereby the observer was present in the room during the counseling session, and a reflective feedback discussion was arranged within 24 h of the session. Four main themes emerged from analysis of the recorded discussions were (i) "I wasn't sure if I-": voicing of doubts or internal questions that occurred during session for the counselor conducting the session, (ii) "I really liked that": positive feedback and validation from the observer, (iii) "I wonder whether-": offering of alternative views, insights and strategies by the observer, and (iv) "That's a real thing for me to take away and think about": evidence of learning by both observers and counselors.

Cancer genetic counsellors typically work in hospitals and participate in multidisciplinary clinical teams. However, in their training, genetic counsellors seldom have much exposure to the medical environments in which their clients receive their cancer treatment. Although there is a general understanding about screening, learning a diagnosis, surgical, chemotherapy, and radiotherapy treatments, many of the genetic counsellors have no first hand experience of these processes, making it difficult to comprehend the impact it has on clients. This project aimed to develop knowledge and awareness of what a cancer patient would experience throughout their cancer journey, therefore increasing the scope for empathy and consideration for clients seen. Secondly, this project aims for genetic counsellors to gain a better appreciation of the risk management procedures and surgeries that enter into the genetic counsellor's discussions with clients of a Familial Cancer Centre (FCC). Two genetic counsellors approached several senior clinicians (including Medical Oncologists, Gastroenterologists, Surgeons, and Gynaecologists) affiliated with the Royal Melbourne Hospital FCC to observe both consultations and medical procedures in their speciality area. The genetic counsellors reflected on their observations of the patient's cancer journey and how the patient's experiences may impact on a genetic counselling session. Both counsellors gained a greater insight into the enormity of a cancer diagnosis on an individual. We wish to share our experience: a greater knowledge of the screening and surgical recommendations that are discussed in a genetic counselling session, an increased awareness of the role of other medical professionals in the patient's cancer journey and a better understanding of how the FCC integrates with the patient's cancer journey. This project warrants extension as we believe that by being better equipped to understand our patients and their needs, we can provide better patient care.

At the Royal Melbourne Hospital, the Genetic Counsellors identified the desire to learn from each other, and engage in new forms of learning. Subsequently, a pilot project focusing on reflection, accountability, and experiential learning was developed. Live supervision with peers was identified as the model which fitted the learning objectives of the team. The aims of the project were to: 1. Develop a live peer supervision model relevant to Genetic Counselling practice applicable to both Board Eligible and Certified Genetic Counsellors working in Familial Cancer. 2. Develop guided post observation questions based on reflective practice. 3. Identify key learning points from the live peer supervision sessions. Seven Associate Genetic Counsellors/Genetic Counsellors participated in the project. The first phase involved collaborative brainstorming sessions to define the purpose of the project, gain knowledge and skills relevant to supervision, set the supervision contract, and develop post-observation questions. After each live supervision session, the discussions of the observer and observee were audio recorded. The second phase of the project involved analysing the recorded discussions and identifying key areas of learning, relevant to clinical practice. The observer and observee's self-reported areas of learning were also identified. This presentation will describe the process and outcomes from these two phases of the project. This pilot project provided the Genetic Counsellors with an opportunity to enhance clinical and supervision skills, harness the skills brought by each Genetic Counsellor, learn from one another's qualities, increase awareness of one's own style in clinical practice, and engage in the reflective process with immediacy. There were a number of learning areas unique to this model of supervision, including access to experiential and visual learning. Live-peer supervision may be a useful model to consider for both Associate and Certified Genetic Counsellors to engage in their continuing development and growth in clinical and supervision skills, ultimately improving patient care.