Society for Genomics Policy and Population Health

SGPPH Spring Conference

The Spring Conference on the theme of 'Genetic Susceptibility Testing' took place on Thursday 8 May 2008 at the Education Resource Centre, Birminghan Women's Hospital, Birmingham.

A report of this meeting follows: Click here for the report.

Report of the SGPPH Spring Conference
The SGPPH held its Spring Conference on genetic susceptibility testing on 8May 2008 at the Birmingham Education Centre. Scientific progress particularly in the area of genome wide association (GWA) studies has resulted in the development of an increasing number of tests for genetic susceptibility to various diseases (including common complex diseases) and a concomitant rise in companies providing this service both direct-to-public and direct-to-consumer. Scientific and technical progress is outstripping policy and there is a need to understand the uses to which data from GWA studies may be put and the clinical utility of susceptibility testing, in order to attempt to manage the transition from research to more general use and to inform guidelines/regulations. The programme consisted of complementary scientific and policy sessions. Presentations and discussions in the scientific session identified the scientific progress being made in the area of susceptibility tests and their clinical significance. Dr Paul Pharoah examined the clinical significance of polygenic susceptibility to breast cancer. Although recent work has identified a range of common low-penetrance genes which may associated with breast cancer existing associations account for less than half the heritable contribution. Increased knowledge could allow targeted prevention and more effective targeting of screening. Professor Tim Frayling reviewed the impact of common gene variants on Type II diabetes risk. Learning more about the genes which are implicated could help to demonstrate the causal relationship between gene variants and disease and could help improve our understanding of the basic biology which could assist in developing appropriate interventions. Professor Julie Williams described her ongoing work on Alzheimer’s disease (AD) which through matching affected individuals with controls has helped to identify possible AD susceptibility genes. Click here for the presentations of P Pharoah, T Frayling, and J Williams. The main conclusions drawn from this session were:

GWA studies and susceptibility tests are useful tools in identifying at risk individuals for targeted screening and risk prevention strategies;
An understanding of the genetics of disease will require re-evaluation of what screening programmes do and will help to improve existing systems;
The risk data gained from such studies will help in understanding the interface between absolute and relative risk, thereby allowing a better calculation of real risk. This information may in turn help individuals make decisions about their health;
The age at which susceptibility testing takes place will vary depending on the disease, age of onset and the risk calculations;
Identifying gene/disease associations help to inform us about the basic biology of many diseases and the rise in susceptibility tests should not overshadow this valuable contribution;
GWA studies can also help identify risk factors which may not have originally been thought to be linked to a particular disease (e.g. GWA studies of vascular disease and neurodegenerative disease may identify some common factors). This is important both in a scientific context as it contributes to understanding the biology and pathology of diseases. It is also important in the context of DTC testing; as it is possible that some tests may inadvertently give unexpected information (e.g. an individual may find they have a particular variant of gene X which at a later stage is shown to be involved in disease);
Prospects for personalised medicine remain remote.

In the second session, speakers gave an overview of companies which provide susceptibility tests, regulations relating to direct-to-consumer tests and the policy implications of susceptibility testing. Dr Alison Harvey described the policy context for individual susceptibility testing and personalised lifestyle advice and explored some wider implications. Dr Christine Patch examined the development of direct to consumer genetic testing within the UK and reviewed recent policy initiatives, including the work of the Human Genetics Commission in this area. Dr Helen Wallace described the claims made by some test providers and discussed appropriate policy interventions. Dr Marcus Benz was unable to attend at short notice, but his presentation was made available to delegates. This included a description of GATC Biotech and the medically mediated provision of genetic tests by this company. Click here for the presentations of A Harvey, C Patch, H Wallace, and M Benz. The main conclusions drawn from this session were:

Currently there is no consensus policy for the regulation of DTC susceptibility tests;
Regulations and policy need to be developed in order to govern susceptibility tests. This includes guidelines for test evaluation and also technical and ethical codes of practice for laboratories/companies that provide the test;
If such susceptibility tests are to be provided by public health services, questions arise as to the identity of test providers, the extent of diseases and how will they be managed;
There is a need for additional information such as:
-         Academic studies on how companies relay genomic information back to consumers
-         What motivates people to take these tests and what are their opinions of such tests
-         How can collective groups of people “at risk” be managed?

This information would be useful for setting standards on how genomic information is relayed and for identifying in what situations and to what extent the services of a health professional are needed. Test results are likely get very complex as more associations are identified; making sense of genetic susceptibility test results is likely to become more challenging. Even if regulations restrict access to predictive genetic susceptibility tests on a direct to consumer basis, health professionals may still require assistance to interpret results correctly. This could involve different strategies for ordering and interpreting test data in the future.

Details of speakers and affiliations

Dr Paul Pharoah, Cancer Research UK Senior Clinical Research Fellow, Strangeways Laboratory, Cambridge, speaking on: "Low-penetrance susceptibility to breast cancer: the clinical significance"

Professor Tim Frayling, Associate Professor, Genetics of Complex Traits, Peninsula Medical School, Exeter, speaking on: "Finding the common genetic variation that influences type 2 diabetes and body mass index"

Professor Julie Williams, Professor of Neuropsychological Genetics, Department of Psychological Medicine, Cardiff University speaking on: “Genetic susceptibility testing and Alzheimer’s Disease”

Dr Christine Patch, Human Genetics Commission and Consultant Genetic Counsellor, Guys Hospital, London, speaking on: "Direct to consumer genetic testing"

Dr Helen Wallace, Executive Director, GeneWatch UK, Buxton, Derbyshire, speaking on: "Genomic revolution or marketing scam?"

Dr Marcus Benz, CEO, GATC Biotech Constance, Germany, (provider of DNA sequencing services and bioinformatics software) speaking on: “Genetic susceptibility testing: the perspective of industry”