Evaluation of genetic testing for complex conditions

A Peninsula Medical School / University of Cambridge / Wellcome Trust Research Project

Summary

Genetic tests, especially those for common complex disorders, will generally provide complex risk information. The clinical meaning of tests may be unclear, and may differ between populations and settings. Several public institutions are charged with a duty to ensure different aspects of the quality of tests, but it is unclear how issues of clinical validity and usefulness are going to be dealt with by regulators in Europe and the USA.

This project aimed to identify the practical barriers to getting good clinical data on the accuracy, predictive value and usefulness of each test. The project also aimed to explore policy options to improve the flow of clinical evaluative data on genetic tests to patients, clinicians and other healthcare decision-makers.

Genetic tests have become an established tool in clinical practice. In the EU alone molecular tests account for 200,000 - 300,000 clinical reports a year. The advent of genetic testing has generated much debate about a range of policy issues such as genetic discrimination and data confidentiality. Underpinning much of the debate is the assumption that genetic tests are both extremely accurate and highly deterministic. Yet some have concerns that genetic tests, especially for complex conditions, may not be fully evaluated or understood and that testing services may not always provide accurate and clear information to clinicians and patients.

This project explored how governments, regulatory and healthcare systems are reacting, to ensure that good clinical evaluative information is available in practice. We tried to identify what experts in the field see as the information needed to make reasonably informed decisions about genetic tests. The aims of the project were:

  • to explore the information about the risks and benefits of each test that clinicians and their patients will need
  • to identify the information required to decide whether or not such tests should be introduced into routine practice in health services.

This project brought together a team with expertise in health policy, public health, health technology assessment and in the policy implications of the new genetics. It built on a similar influential programme of work on pharmacogenetics carried out by the same team.

Research team

  • Dr David Melzer, Institute of Public Health, Cambridge University
  • Stuart Hogarth, Institute of Public Health, Cambridge University
  • Dr Ron Zimmern, Director, Cambridge Genetics Knowledge Park
  • Dr Tom Ling, Reader, Department of Political Science, Anglia Polytechnic University
  • Dr Kathy Liddell, Cambridge Genetics Knowledge Park and Faculty of Law, Cambridge University
  • Dr Simon Sanderson, Cambridge Genetics Knowledge Park, Department of Public Health and Primary Care, Cambridge University.