Martin B Delatycki1, Nigel G Laing2, Sarah J Moore3, Jon Emery4, Alison D Archibald5, John Massie6, Edwin P Kirk7. 1. MBBS, FRACP, PhD, Medical Director, Victorian Clinical Genetics Services, Parkville, Vic; Director, Bruce Lefroy Centre, Murdoch Children@s Research Institute, Parkville, Vic; Honorary Professor, University of Melbourne, Parkville, Vic; Honorary Professor, Monash University, Clayton, Vic. 2. FHGSA, FFScRCPA, FAHMS Professor, Centre for Medical Research, University of Western Australia, Perth, WA; Professor, Harry Perkins Institute of Medical Research, Nedlands, WA; Senior Medical Scientist, Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA. 3. MBBS, FRACGP, FARGP, FACRRM, DRANZCOG, Senior Lecturer, Rural Clinical School, University of Western Australia, Perth, WA. 4. MA, MBBCh, FRACGP, MRCGP, DPhil, Herman Professor of Primary Care Cancer Research, Centre for Cancer Research and Department of General Practice, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Vic. 5. PhD, GDipGenetCouns, Associate Genetic Counsellor @ Screening Programs, Victorian Clinical Genetics Services, Murdoch Children@s Research Institute, Parkville, Vic; Honorary Fellow, Department of Paediatrics, University of Melbourne, Parkville, Vic. 6. MBBS, FRACP, PhD, Consultant Respiratory Physician, Department of Respiratory Medicine, Royal Children@s Hospital, Parkville, Vic; University of Melbourne, Parkville, Vic; Murdoch Children@s Research Institute, Parkville, Vic. 7. PhD, FRACP, FRCPA, Clinical Geneticist, Centre for Clinical Genetics, Sydney Children@s Hospital, Randwick, NSW; Genetic Pathologist, NSW Health Pathology Randwick Genomics Laboratory, Randwick, NSW; Conjoint Professor, School of Women@s and Children@s Health, University of New South Wales, Randwick, NSW.
Abstract
BACKGROUND: General practitioners (GPs) provide advice to women and couples before and during pregnancy to optimise the health and wellbeing of couples and their child. Genetic carrier screening can identify the chance of couples having children with recessively inherited genetic conditions. The 2018 federal budget announced Mackenzie's Mission, a $20 million Medical Research Future Fund project investigating how such screening could be offered to all couples who wish to access it. OBJECTIVE: The aim of this paper is to discuss historical and current screening methodologies, options for individuals and couples identified as having a high chance of having a child with a genetic condition, screening guidelines, Mackenzie's Mission and the implications of carrier screening in general practice. DISCUSSION: GPs are crucial to any population-wide genetic carrier screening program and are often the first health professional that women and couples see for preconception and early pregnancy care. Knowledge of genetic screening will be increasingly important as such programs are developed.
BACKGROUND: General practitioners (GPs) provide advice to women and couples before and during pregnancy to optimise the health and wellbeing of couples and their child. Genetic carrier screening can identify the chance of couples having children with recessively inherited genetic conditions. The 2018 federal budget announced Mackenzie's Mission, a $20 million Medical Research Future Fund project investigating how such screening could be offered to all couples who wish to access it. OBJECTIVE: The aim of this paper is to discuss historical and current screening methodologies, options for individuals and couples identified as having a high chance of having a child with a genetic condition, screening guidelines, Mackenzie's Mission and the implications of carrier screening in general practice. DISCUSSION: GPs are crucial to any population-wide genetic carrier screening program and are often the first health professional that women and couples see for preconception and early pregnancy care. Knowledge of genetic screening will be increasingly important as such programs are developed.
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