Fulfilling Genomic Promissories- an interdisciplinary approach to translation and implementation

Advances in genomics have provided major insights into the aetiology of many diseases and provided incremental improvements in the means to diagnose or predict these diseases in in clinical practice. Optimism about further developments remains high, with good reason, yet this can also sometimes result in a discourse that is focussed on the technological achievements, and that imagines predictive powers that are difficult to honour in practice. In the clinic we may find that genomic results are less clear, or certain, than we might wish, and that every answer is accompanied by more questions: Should family members be alerted to genetic risks they are unaware of, and if so by whom?; what sort of consent do I need to seek and when?; what constitutes valid consent to genomic findings that are incidental to the clinical question?; should children be tested for adult onset conditions?; is there a duty to recontact as genomic interpretations evolve?, and many more. Just like the identification of genes and disease predispositions, the mapping of attendant ethical (and legal) issues are a crucial component of effective translation of genomics into health care. Ethical scrutiny of the issues arising at the interface of the research laboratory, the bioinformatics pipeline and their implementation in healthcare practice, if done well, will clear the way to allow further progress to be made.

Anneke is Professor of Clinical Genetics in the Faculty of Medicine in Southampton and leads an interdisciplinary research group an interdisciplinary research group [Clinical Ethics and Law at Southampton -CELS: www.soton.ac.uk]
In 2001 she co-founded the Uk Genethics Forum (www.genethicsUK.org) a national forum for the analysis of ethico-legal issues arising in genomic practice
She is a former member of the Human Genetics Commission; Nuffield Council of Bioethics; and Genomics England Ethics Advisory committees. She chairs UK Biobank’s ethics committee and is immediate past chair of the British Society for Genetic Medicine.