EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about significant changes to hereditary breast and ovarian cancer (HBOC) diagnostic testing with new treatments, testing methods and strategies, and evolving information on genetic associations. These best practice guidelines have been produced to assist clinical laboratories in effectively addressing the complexities of HBOC testing, while taking into account advancements since the last guidelines were published in 2007. These guidelines summarise cancer risk data from recent studies for the most commonly tested high and moderate risk HBOC genes for laboratories to refer to as a guide. Furthermore, recommendations are provided for somatic and germline testing services with regards to clinical referral, laboratory analyses, variant interpretation, and reporting. The guidelines present recommendations where 'must' is assigned to advocate that the recommendation is essential; and 'should' is assigned to advocate that the recommendation is highly advised but may not be universally applicable. Recommendations are presented in the form of shaded italicised statements throughout the document, and in the form of a table in supplementary materials (Table S4). Finally, for the purposes of encouraging standardisation and aiding implementation of recommendations, example report wording covering the essential points to be included is provided for the most common HBOC referral and reporting scenarios. These guidelines are aimed primarily at genomic scientists working in diagnostic testing laboratories.

The incidence of venous thromboembolism in total joint replacement during COVID-19 pandemic: has lockdown had an influence?

AIMS: As the first wave of the COVID-19 pandemic began to dip, restarting elective orthopaedics became a challenge. Protocols including surgery at 'green' sites, self-isolation for 14 days, and COVID-19 testing were developed to minimize the risk of transmission. In this study, we look at risk effects of 14-day self-isolation on the incidence of venous thromboembolism (VTE) in our green site hospital among patients undergoing total joint replacement (TJR). METHODS: This retrospective cohort study included 50 patients who underwent TJR. Basic demographic data was collected including, age, sex, American Society of Anesthesiologists (ASA) grade, body mass index (BMI), type of surgery, and complications at two and four weeks. Univariate and multivariate analysis were used to identify risk factors associated with an increased risk of VTE. RESULTS: A total of 50 patients were included in our study, with 24 males and 26 females. The mean age was 67.86 (SD 11.803). Overall, 8% of patients suffered a VTE complication; symptomatic non-fatal pulmoary embolism was confirmed in 6% of patients (n = 3) as an inpatient, and symptomatic deep vein thrombosis was diagnosed in 2% of patients (n = 1) within two weeks of their operation. All patients were found to be female (p < 0.001), had a BMI > 30 (p = 0.317), and were immobile prior to their operation using walking aids (p = 0.016). CONCLUSION: The incidence we report is much higher than the reported incidence in the literature, which we believe is related to the 14-day self-isolation period and immobility prior to their operation. We recommend that all patients undergoing TJR that require a period of self-isolation, are pre-assessed prior to self-isolation for their risk of VTE, potentially using mechanical and chemical prophylaxis to reduce the likelihood of developing VTE.Cite this article: Bone Jt Open 2020;1-12:751-756.