Medicine, University of Southampton

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 genetics, and more recently also cardiac genetics. She was appointed to Consultant/ Senior Lecturer in Oxford in 1997, moved to Southampton in 2000 and was promoted to Professor of Clinical Genetics in 2007.

Her early research into the genes that are involved in susceptibility to type 1 diabetes, led to an interest in the problems of assimilating an exponentially increasing amount of detailed molecular genetic information into clinical practice and, inevitably, in the ethicolegal aspects raised by the clinical practice of genetics. In 2001, with collaborators at Ethox (University of Oxford) and Wellcome Trust funding, she cofounded the UK Genethics Group which is a national forum for the exploration of ethico-legal issues arising in genetic practice.

She retains a foot in the molecular genetics laboratory through a variety of collaborations, and leads an interdisciplinary programme of research into the social, ethical and legal aspects of developments in genetics. She recently set up the multidisciplinary network CELS: Clinical ethics and law at Southampton which pulls together the diverse interests in these subjects across the faculty of medicine, and partners with HEAL to promote research in this area as well as research led teaching.

These interests led to a leadership role in national policy development and implementation of best practice and she sits on both the Human Genetics Commission and the Nuffield Council of Bioethics.

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 in a wider social and scientific context. 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 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. http://www.soton.ac.uk/cels/research_projects/gtoc.html

Perspectives on the limits of 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 management difficulties, there is little in-depth knowledge about what different parties think about the issues raised and the implication of these for practice. The research explores the views of academics, members of genetic specialist interest groups and healthcare professionals, in order to shed light on the complexity of the issues involved and how clinical practice might take these into account

Clinically Relevant Incidental findings from new genetic technologies

Rapid advances in the speed and cost of methods to explore a human genome means that a genetic test performed for clinical reasons may indicate genetic diagnoses or predispositions entirely unanticipated or related to the reasons for the test. This research explores the consent and disclosure issues associated with these changes using both qualitative and quantitative ethodology. http://www.soton.ac.uk/cels/research_projects/If.html.

National Policy formulation

An important spinout of the work in this area is the formulation of national policy and best practice guidelines. Examples of recent national guidelines hawse have co-authored include: BSHG: genetic testing of children (www.BSHG.org.uk) and for the Joint Committee on Medical Genetics: consent and confidentiality in genetic practice (Royal College of Physicians In Press). Membership of two different NICE panels (familial hypercholesterolaemia and familial breast cancer) further illustrate this.

Academic unit:  Cancer Sciences