Lucassen, Anneke - University of Southampton

个人简介

Anneke did her higher medical training in Oxford before doing a PhD in the molecular genetics of multifactorial disease at the Institute of Molecular Medicine (Oxford). She specialised in Clinical Genetics, with a particular interest in cancer and cardiac genetics. She was appointed to Consultant/ Senior Lecturer in Oxford in 1997, moved to Southampton in 2000 and became Professor of Clinical Genetics in 2007.

研究领域

Our research explores how the rapid developments in genetic and genomic technologies are integrated into clinical practice and society. By bringing together different areas of research, teaching and practice from different disciplines, we have created a novel niche that is effective in contextualising genetics to a broad audience. Our aim is to define an ethical and legal framework that serves current genetics practice and accommodates future developments in genetic research. Some of our current funded research (Wellcome Trust, NIHR, and BUPA Foundation) illustrates this: Predictive genetic testing of children A host of national and international guidelines recommend that genetic testing is deferred in childhood unless there are immediate medical benefits but there is very little empirical evidence behind this recommendation. Using both a survey of current practice across the UK and in-depth interviews of parents, young people and practitioners, the study aims to provide an evidence basis to guidance and help improve communication about these issues. Consent and confidentiality in genetic medicine Despite the recognition by the GMC and the Joint Committee of Medical Genetics that the familial nature of genetic data can cause difficulties in practice, there is little in-depth knowledge about what different parties think about the issues raised. Is a genetic test result an individual result that can only be disclosed to others with specific consent? Or does a test result really something that ‘belongs’ to all the family members who might also have inherited it? The research explores the views of patients, patient support groups, healthcare professionals and academics, in order to shed light on how clinical practice might take these into account.

近期论文

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Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom - Carrieri, Daniele, Dheensa, Sandi, Doheny, Shane, Clarke, Angus J., Turnpenny, Peter D., Lucassen, Anneke and Kelly, Susan E. Published:2017Publication:European Journal of Human GeneticsPage Range:1-5doi:10.1038/ejhg.2016.188 Predictive genetic testing of children for adult-onset conditions: negotiating requests with parents - Fenwick, Angela, Plantinga, Mirjam, Dheensa, Sandi and Lucassen, Anneke Published:2016Publication:Journal of Genetic CounselingPage Range:1-9doi:10.1007/s10897-016-0018-y Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases. - Plantinga, Mirjam, Birnie, Erwin, Abbott, Kristin M., Lucassen, Anneke M., Schuurmans, Juliette, Sinke, Richard J., Kaplan, Seyma, Verkerk, Marian A., Ranchor, Adelita V. and van Langen, Irene Published:2016Publication:European Journal of Human GeneticsPage Range:1-7doi:10.1038/ejhg.2016.43PMID:27165008 Responsible implementation of expanded carrier screening. - Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C., van El, Carla G., Forzano, Francesca, Hall, Alison, Howard, Heidi C., Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A., Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J. and Peterlin, Borut Published:2016Publication:European Journal of Human GeneticsPage Range:1-12doi:10.1038/ejhg.2015.271PMID:26980105