Research groups
Colleges
Websites
- Centre for Personalised Medicine
- UK Genethics Forum
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CELS-Southampton
Southampton research group
Anneke Lucassen
Professor of Genomic Medicine. Director of the Centre for Personalised Medicine
My research career started by investigating the molecular genetics of common diseases in the 1990s (during my DPhil in Oxford) with an ambition to translate laboratory findings into the clinic to improve the identification and management of heritable diseases. I soon realised that in order to do so effectively, we first needed to know how to address some of the ethical and legal issues that arise in genetic- and genomic- medicine, and this has been the focus of my research ever since.
As professor of Clinical Genetics at the University of Southampton I set up a translational research group exploring the ethico-legal aspects of big data in medicine, with genomic medicine as a particular example. The Clinical Ethics and Law in Society- CELS- group (www.soton.ac.uk/cels) has a unique combination of expertise in molecular research, social science research, and direct contact with patients resulting in an effective applied ethics pipeline, which focuses on the anticipation -and removal - of barriers to implementation. It functions as an ELSA lab: addressing the ethical, legal and social aspects of developments in big data relevant to health, and as lead for one of 6 themes within the Southampton Biomedical Research Centre [Data, Health and Society].
I was delighted to move [back] to Oxford in September 2021 to set up the CELS-Oxford group in the WTC, funded in part by a Wellcome trust Collaborative award, and working closely with long term collaborator Professor Michael Parker from the Wellcome Trust Centre for Ethics and Humanities, whilst retaining oversight of the CELS-Southampton group.
Our current research programme addresses the benefits of genomic discovery in practice and its direct relevance to patients and society. We have made field changing contributions to understanding the ethical aspects of for example: misattributed genetic relationships; familial contact tracing in genetics; unanticipated clinical predictions from genomic findings genetic testing of children for adult diseases; high rates of spurious results from direct to consumer genetic tests; the hybrid territory between research and clinical practice. These have been incorporated into clinical guidelines and position statements.
I was appointed as a director for Southampton’s WebScience Institute in 2021 and co-founded the UK Genethics Forum (www.genethicsUK.org), a national professional forum which has been addressing practical ethical issues arising in genetic medicine since 2001.
Our research outputs have helped initiate and shape policy via various national roles. For example, I was a commissioner on the Human Genetics Commission until it was dissolved in 2012; the Nuffield Council of Bioethics 2009-2015; the HFEA scientific review of treatment of mitochondrial diseases 2011-2014 and I sit on the Genomics England Ethics Advisory committee. I was the inaugural chair of the British Society for Genetic Medicine (BSGM) Ethics and Policy committee, and chaired the society from 2016-2020. I chair the ethics advisory committee of UK Biobank and, from 2022, am chair of the joint committee of genomic medicine- JCGM (a royal college of physician/ pathology/ BSGM committee).
I am an Honorary Consultant in Clinical Genetics (anneke.lucassen@nhs.net)
Recent publications
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The ethical challenges of diversifying genomic data: A qualitative evidence synthesis
Journal article
Hardcastle F. et al, (2023), Cambridge Prisms: Precision Medicine, 1 - 39
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Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.
Journal article
Desai NV. et al, (2023), JCO precision oncology, 7
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Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance.
Journal article
Horton RH. et al, (2023), Journal of medical ethics
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Ethical preparedness and developments in genomic healthcare.
Journal article
Farsides B. and Lucassen AM., (2023), Journal of medical ethics
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Facilitating genetic testing after death: the ongoing duty of care to the deceased and their relatives.
Journal article
Dennis C. et al, (2023), Journal of the Royal Society of Medicine, 116, 193 - 198
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Immortal data: a qualitative exploration of patients’ understandings of genomic data
Journal article
Lyle K. et al, (2023), European Journal of Human Genetics, 31, 681 - 686
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Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM).
Journal article
Ballard LM. et al, (2023), European journal of human genetics : EJHG
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Utility of polygenic risk scores in UK cancer screening: a modelling analysis.
Journal article
Huntley C. et al, (2023), The Lancet. Oncology
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Genomics and Insurance in the United Kingdom: Increasing Complexity and Emerging Challenges
Preprint
Dixon P. et al, (2023)
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Realistic expectations are key to realising the benefits of polygenic scores
Journal article
Sud A. et al, (2023), BMJ (Clinical research ed.), 380