Professor Nigel Laing heads the Neurogenetic Laboratory in Harry Perkins Institute of Medical Research. He is passionate about prevention and through 30 years as a medical researcher and scientific consultant at PathWest Diagnostic Genomics, the premier diagnostic facility for neurogenic diseases in Australasia, he knows that the thing most couples want after having children with severe, often fatal diseases, is to not have any more affected children. Preconception carrier screening involves finding carriers of disease, prior to couples having children.
Dr Nicholas Pachter is a Clinical Geneticist with many years of experience in the diagnosis and management of inherited disorders. He is Director of Genetic Services of Western Australia which provides clinical genetics care to all people living in WA. His clinical and research interests are in the diagnosis and management of adult-onset genetic disorders, in particular, inherited cardiac and inherited cancer disorders. Dr Pachter is an Associate Professor in the Faculty of Health and Medical Sciences at the University of Western Australia and is Co-ordinator of Advanced Training for Clinical Genetics at the Royal Australasian College of Physicians.
Dr Gina Ravenscroft is a post-doctoral fellow in Professor Nigel’s neurogenetic laboratory who has spent almost a decade researching neuromuscular disorders affecting newborns and infants. Her research experience and knowledge have been crucial to the development of the neuromuscular-targeted NGS panel, which is now a gold standard for molecular diagnosis of neurogenetic diseases in Australia. Her passion extends from identifying new disease genes to the prevention of inherited diseases in the community.
Ms Karen Harrop has worked as a genetic counsellor for 25 years. Her experience has encompassed working with children and families in the paediatric setting; familial cancer; and adult genetics. Karen has a special interest in working with couples, often in emotionally difficult situations, within the preconception, prenatal, and obstetric setting. Karen works as a Senior Genetic Counsellor, both in the public health system at Genetic Services of WA and part-time at Private Genetics WA. She is passionate about ensuring couples and individuals are given the opportunity of informed choice and are supported through decision-making, unexpected outcomes and future planning. Karen’s level of experience enables her to respond to a wide range of genetic situations, questions and concerns. Education and training include a Bachelor of Science; Masters in Counselling; and certification as a Genetic Counsellor by the Human Genetics Society of Australasia (HGSA).
Ms Samantha Edwards graduated with a Postgraduate Diploma in Genetic Counselling from the University of Newcastle in 2006. As a genetic counsellor, she has worked both in the clinical setting at Genetic Services of Western Australia and in research settings both here in Australia and in the United Kingdom. Her research career has included involvement in the Fragile X Carrier Screening study out of the Murdoch Children’s Research Institute and University of Western Australia, the Non-Invasive Prenatal Testing for Aneuploidy Evaluation Study (NIPT) and the 100,000 Genomes Project out of the UK. During her time in London, Samantha coordinated the Reliable Accurate Prenatal Non-Invasive Diagnosis (RAPID) and The Prenatal Assessment of Genomes and Exomes (PAGE) studies across over 30 NHS fetal medicine departments around the UK. Most recently since returning to Perth, Samantha has been recruiting participants to the Australian Genomic Health Alliance rare disease flagships for genomic testing as well as joining the Preconception Carrier Screening team in developing and setting up the WA pilot study.
Ms Georgie Hollingsworth is an Associate Genetic Counsellor and has been working in the field for 10 years. She has worked in clinical and research settings in Australia and the UK. At the beginning of her career, Georgie worked within the Familial Cancer Program at Genetic Services Western Australia. During her time at Great Ormond Street Hospital in London, Georgie coordinated paediatric and cancer genetic studies, in particular, the Deciphering Developmental Disorders (DDD). She has since spent over 3 years working in epilepsy genetics research in Melbourne, with a particular focus on severe childhood onset epilepsies. After returning to Perth and finishing maternity leave, Georgie has joined the Preconception Carrier Screening team and is involved with the WA pilot study and Mackenzie’s Mission national study. Education and training include a Bachelor of Science; Postgraduate Diploma in Counselling; and Part One certification/board eligibility as an Associate Genetic Counsellor by the Human Genetics Society of Australasia (HGSA).
Mr Royston Ong is a PhD student in Professor Laing’s lab. His PhD project investigates the design and implementation of a preconception carrier-screening program in Western Australia. He is also interested in increasing awareness about preconception carrier screening, increasing genetic literacy and reproductive autonomy amongst the public. Prior to starting his PhD, Royston worked as a research assistant with Prof. Laing and Dr Ravenscroft using next-generation sequencing methods to provide molecular diagnosis for families.
WA Carrier Screening Research Project 