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Keywords: Health services research; Genetic testing; Molecular medicine EN Health services research Genetic testing Molecular medicine 559 563 5 12/09/22 20221201 NES 221201 Implementation science based health care research is urgently needed for genomic and precision medicine in Australia Precision medicine is a tailored approach to health, incorporating an individual's genetic make-up, environment and lifestyle, and is a new frontier offering much promise for disease prevention and cure.[1] Its recent rise has been largely driven by rapid advances in genomic medicine, with sequencing of an individual's genetic code identifying opportunities for precision health care, therapies and diagnostics. Finally, the introduction of genomic medicine into primary care and population screening will challenge existing health care infrastructure. Genomic medicine and its contribution to precision medicine presents a unique set of challenges to a health system trying to keep up with the fast pace of advances over the past decade. [Extracted from the article]

Gene therapy for haemophilia, chimeric antigen receptor T (CAR-T) cell therapy for cancer, and gene editing illustrate many of the issues. Gene therapy for haemophilia is entering the late clinical trial stage, with at least ten ongoing trials for haemophilia A and six for haemophilia B.9 This form of I in vivo i gene therapy involves a single intravenous injection of an adeno-associated virus (AAV) vector that has been engineered to home to the liver and produce the required clotting factor there for the remainder of an adult's life. Keywords: Molecular medicine; Biomedical engineering; Molecular biology; Cell biology; Stem cells; Immunotherapies EN Molecular medicine Biomedical engineering Molecular biology Cell biology Stem cells Immunotherapies 65 70 6 07/19/22 20220715 NES 220715 Many technical and regulatory hurdles have been overcome, but the field has a long way to go Who would have thought a small piece of messenger RNA (mRNA) wrapped in a delectable lipid could do so much? In particular, CAR-T cell immunogene therapies that target CD19 on B cells have achieved complete response and remission rates of 77% and 80% in acute lymphoblastic leukaemia.19,20 Traditional CAR-T cell therapies are manufactured by collecting peripheral blood T cells from patients with B-cell malignancies and genetically engineering them in a specialised laboratory to express a receptor (such as the CD19 receptor). [Extracted from the article]

Health services research, Genetic testing, Molecular medicine Keywords: Health services research; Genetic testing; Molecular medicine EN Health services research Genetic testing Molecular medicine 331 331 1 04/18/23 20230415 NES 230415 Acknowledgements Alan Ma is the recipient of a Sydney Health Partners' Research Translation Fellowship (https://sydneyhealthpartners.org.au/work-with-us/research-translation-fellowships), which funds part of his clinical time to perform implementation science based research in genomics. [Extracted from the article]

Keywords: Health services research; Genetic testing; Molecular medicine EN Health services research Genetic testing Molecular medicine 330 330 1 04/18/23 20230415 NES 230415 Acknowledgements We thank Professor Wei Chua (Professor of Oncology and Cancer Care, Western Sydney University, and Senior Staff Specialist in Medical Oncology, Liverpool Hospital), who is part of the key investigators looking at tumour mutations in colorectal and non-small cell lung cancer using Next Generation Sequencing in South Western Sydney, for providing her expertise in the field for this letter. The NGS results found that 56% of patients with colorectal cancer and 50% of patients with NSCLC had tier I mutations, defined as those with clear evidence of clinical actionability. A nine-month internal audit of 400 patients has found that 77% of patients with stage IV NSCLC and 82% of patients with stage IV colorectal cancer had at least one gene mutation identified using this panel. [Extracted from the article]

Objective: To characterise the clinical phenotypes and genetic variants of hereditary pancreatitis in people diagnosed in South Australia., Design, Setting, Participants: Cross-sectional study of people who received molecular diagnoses of hereditary pancreatitis from one of four major diagnostic services in South Australia, 1 January 2006 - 30 June 2021., Main Outcome Measures: Genotypic and clinical features of people with hereditary pancreatitis, including age at onset, attack frequency, pain indices, use of opioid medications, and physical and mental health impact of hereditary pancreatitis., Results: We identified 44 people from ten families who received molecular diagnoses of hereditary pancreatitis during 2006-21 (including 25 Indigenous people [57%] and 27 women [61%]): 36 with PRSS1, five with SPINK1, and three with PRSS1 and SPINK1 mutations (determined by whole exome sequencing). Symptom onset before the age of ten years was reported by 37 people (84%). Pancreatitis-related pain during the preceding four weeks was described as moderate or high by 35 people (79%); 38 people regularly used opioids (86%). Fifteen patients had diabetes mellitus (34%), and eight had undergone pancreatic surgery (18%). The estimated prevalence of hereditary pancreatitis was 1.1 (95% CI, 0.72-1.4) cases per 100 000 population for non-Indigenous and 71 (95% CI, 66-77) cases per 100 000 population for Indigenous South Australians. Among people with adult-onset chronic pancreatitis admitted to South Australian public hospitals during 2001-2019, the proportions of Indigenous people (12%) and women (38%) were smaller than we report for hereditary pancreatitis., Conclusion: The estimated prevalence of hereditary pancreatitis in South Australia is higher than in Europe. PRSS1 gene mutations are important causes, particularly among Indigenous young people., (© 2022 The Authors. Medical Journal of Australia published by John Wiley & Sons Australia, Ltd on behalf of AMPCo Pty Ltd.)