About
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 the data science theme within the Southampton Biomedical Research Centre 2016-2022. I aim to lead the proposed Data, Health and Society theme in the new BRC with Prof Dame Wendy Hall from FEPS if funding for the new BRC is confirmed.
In September 2021 I was appointed to a post in Oxford to set up the CELS-Oxford group in the Wellcome Centre for Human Genetics (WHG), and to direct the Centre for Personalised Medicine- a partnership between WHG and St Anne's College Oxford. Our research is funded in part by a Wellcome trust Collaborative award, and the CELS Southampton and CELS Oxford groups now form a central south coast group, and I remain employed by Southampton University but now very part time.
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.
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 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.
I am an Honorary Consultant in Clinical Genetics (anneke.lucassen@nhs.net)