Economic Analysis of Genomic Diagnostic Technologies for Multifactorial Genetic Diseases in the UK NHS

Genetic tests to identify changes in chromosomes, genes, or proteins are currently used in the UK National Health Service (NHS) to diagnose inherited single gene disorders or generate information on patient disease status. New genomic technologies such as microarrays can yield information on multiple genetic changes, allowing disease management to be stratified and treatments to be targeted only at patients likely to benefit, reducing patient morbidity and NHS treatment costs. However, these technologies have not been implemented widely, in part due to high development costs and the established use of cytogenetic techniques as alternatives. Economic evidence could inform the translation of these tests into clinical practice, but there are several methodological challenges, including selecting the appropriate type of economic evaluation. A microarray-based genomic test to diagnose and direct therapy in haematological cancers has been developed in a research setting, but is yet to be translated into clinical practice. This may improve current practice by identifying patients who will not respond to chemotherapy, or who will suffer adverse events.

James Buchanan has been awarded a 3 year NIHR Doctoral Fellowship to conduct a research project which will consider the issues surrounding the economic evaluation of such technologies, evaluate the evidence for cytogenetic and microarray-based testing in haematological cancer, and collect data to conduct three economic evaluations of microarray-based testing versus cytogenetic testing. This project will make an important contribution to the health economics evidence base and provide clinicians with information which could improve disease management, and reduce patient morbidity and treatment costs.

November 2013
The first publication based on this work, ‘Issues surrounding the health economic evaluation of genomic technologies’, has now been published in Pharmacogenomics. You can access this publication by following this link.

February 2015
The second publication based on this work “Welfarism versus extra-welfarism: can the choice of economic evaluation approach impact on the adoption decisions recommended by economic evaluation studies?” has now been published in PharmacoEconomics. You can access this publication by following this link.