Professor Peter Donnelly, Professor of Statistical Science University of Oxford charted the incremental speed of discovery of genetic risk factors for common diseases over the last few years. He described an exponential rate of discovery, fuelled by advances in chip based technologies. Applying these identifiable population risk estimates (of which the most significant currently contribute around 30-40% increased risk) to individuals will be a challenge.  

Translating those genetic susceptibilities into a genetic testing regime that can be applied at national level is likely to be the role of the UK Genetic Testing Network. Anneke Seller, UKGTN Scientific Adviser described the translational process currently applicable for classical inherited disorders, from the discovery of a disease gene, to making a specific genetic test available to the UK population within an NHS setting. She set out the role of the ACCE framework (namely analytical validity, clinical validity, and ethical, legal and social issues) and the practical steps involved in formulating a gene dossier. Currently the role of the UKGTN is limited to classical inherited disorders using DNA as the substance to be analysed (or analyte). Widening the scope of the UKGTN’s remit to complex disorders which use non DNA as analyte is one possible way forward.  Click here for A Seller's presentation.

The U.K. has led the way in population screening, being the first country in the world to have linked universal screening of newborns. Allison Streetly (Programme Director for the England NHS Sickle Cell and Thalassaemia screening programme) described the implementation history of the new national linked antenatal and neonatal screening programme for haemoglobinopathy and sickle cell disease. She outlined the ethical difficulties inherent in the screening process and stressed the need for community engagement. Pre-conceptual screening ultimately may prove to be another approach which could be useful for this range of disorders. However there are distinctive sensitivities involved. Click here for Allison Streetly's presentation.

Some of these sensitivities around genetic material and genetic information were described by Professor Anneke Lucassen (Wessex Academic Clinical Genetics Unit, Clinical Ethics and Law, Southampton) who set out some ethical and practical considerations inherent in using, sharing and recording genetic information, using case studies to illustrate the distinction between two different models of ‘ownership’ of such information (personal and joint account models).  Click here for Anneke Lucassen's presentation.

The implementation of universal screening programmes and increasing use of genetic testing in routine medical practice raises profound questions about the extent to which health care professionals are equipt to deliver such services. Professor Joe Kai (Professor of Primary Care, University of Nottingham) set out the PEGASUS programme which through a combination of e-materials, taglines or prompts on laboratory results and cascading face to face training aims to support health professionals involved in the new genetic screening (www.pegasus.nhs.uk).

Once genetic risk factor status has been communicated to lay people, how are these interpreted? This was the subject for the final speaker Dr Paula Saukko (Lecturer, University of Loughborough) who discussed the findings of her research examining the responses of people who had undergone testing for genetic susceptibility for deep vein thrombosis. She found that lay people do not necessarily perceive genetic risk information as ‘special’ but have a multifactorial understanding of what causes heart disease. Positive genetic test results were more likely to motivate small lifestyle changes involving the use of medication, rather than significant behavioural changes.  Click here for Paula Saukko's presentation.

The extent to which genome wide susceptibilities identified at population level can be meaningful for individual patients is a topic which SGPPH is likely to re-examine during the coming year. We have a meeting booked for 8 May 2008 at the Birmingham Education Centre.

More details are available at www.sgpph.org