Clinical validation of the 50 gene AmpliSeq Cancer Panel V2 for use on a next generation sequencing platform using formalin fixed, paraffin embedded and fine needle aspiration tumour specimens.

The advent of massively parallel sequencing has caused a paradigm shift in the ways cancer is treated, as personalised therapy becomes a reality. More and more laboratories are looking to introduce next generation sequencing (NGS) as a tool for mutational analysis, as this technology has many advantages compared to conventional platforms like Sanger sequencing. In Australia all massively parallel sequencing platforms are still considered in-house in vitro diagnostic tools by the National Association of Testing Authorities (NATA) and a comprehensive analytical validation of all assays, and not just mere verification, is a strict requirement before accreditation can be granted for clinical testing on these platforms. Analytical validation of assays on NGS platforms can prove to be extremely challenging for pathology laboratories. Although there are many affordable and easily accessible NGS instruments available, there are no standardised guidelines as yet for clinical validation of NGS assays. We present an accreditation development procedure that was both comprehensive and applicable in a setting of hospital laboratory for NGS services. This approach may also be applied to other NGS applications in service laboratories.

Prevalence and associated risk factors of non-alcoholic fatty liver disease in hospitalized patients.

BACKGROUND AND AIM: Non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome (MS) have become important health issues in many countries. There is increasing interest in ultrasound-diagnosed NAFLD. The aim of the study was to evaluate the prevalence of NAFLD in hospitalized patients and to determine the metabolic features of ultrasound-diagnosed patients. METHODS: A number of 3,005 hospitalized patients were prospectively assessed. Subjects were submitted to a standard interview and a chart review was made to note anthropometric (BMI and waist circumference), biochemical and abdominal ultrasonography parameters. MS was evaluated according to IDF criteria. Logistic regression analysis was used to identify independent factors associated with ultrasound-diagnosed NAFLD. RESULTS: The prevalence of NAFLD in the enrolled subjects was 20%. Patients with NAFLD had higher values of BMI and waist circumference. MS was present in 61.09 % of cases with NAFLD. At least one risk factor was observed in 88.41%, and in 14.07% of patients all 5 criteria were fulfilled. The odds ratios of the metabolic disorders in subjects with NAFLD compared with those without NAFLD were higher in the overweight and obese group than in the normal-weight group. Central obesity, hypertriglyceridemia, and elevated blood pressure (for total and the overweight group) were independently associated with NAFLD. CONCLUSION: The prevalence of ultrasound NAFLD in hospitalized patients was similar to the general population. NAFLD was closely associated with metabolic disorders.