HGC Information Gathering: Strategic priorities in genetics research
Sarah Wordsworth, PhD
Health Economics Research Centre
University of Oxford
Human Genetics Commission February 7 th 2007, London
What Can Health Economics Add?
Health economics contribution to genetics/genomics
Current publicly funded health economics and genetics research in the UK
DNA versus clinical diagnosis
Novel genomic technologies
Health economics – Contribution to Genetics/Genomics
Health Care Financing
(e.g. primary versus secondary care counselling; which laboratories should undertake genetic testing)
(compares costs and benefits of alternative interventions, often using cost-effectiveness analysis)
Patient (and Clinician) Decision Making
(e.g. value of genetic information, benefits and dis-benefits of genetic information)
Current Publicly Funded Health Economics Research in Genetics
36 Studies *
Most in Oxford and Manchester (Universities with GKPs)
Types of Questions Being Addressed:
Largely economic impact of new genetic interventions upon NHS
Health Economic Techniques:
Many economic decision models, due to lack of RCTs in some areas
Main Funding Bodies:
Dept Health and European Commission
What can we deduce from this?
Small, but growing level of research
* (handout of published studies)
Study Areas * (handout of published studies) Learning disability Cancer 3 Genomic technologies Newborn screening Cardiovascular disease Haemochromotosis 17 Clinical vs DNA Genetic counselling Cystic fibrosis 6 Service organisation Depression Cancer Anaemia 10 Pharmacogenetics * Diseases Number Study types
Research suggests pharmacogenetic tests may help to predict those patients who will experience serious adverse drug reactions (ADRs).
ADRs have a massive impact on the National Health Service (NHS) in the UK. One in ten of all NHS bed days in England can be attributed to ADRs, at a cost of £380m a year.
Herceptin: High profile example and health economics was an important part of the decision making for NICE.
Establishing Cost-effectiveness of TPMT Genotyping to Reduce ADRs with Azathioprine
Azathioprine is an immunosuppressant , used to treatment rheumatoid arthritis and Crohn’s disease.
ADRs (bone marrow suppression) limit the effective use of Azathioprine.
Clinical evidence suggests that a pharmacogenetic test that looks for changes in a specific gene called Thiopurine s-Methyl Transferase (TPMT) can be used to identify the risk of developing profound Neutropaenia (low number of white blood cells) in individuals prescribed Azathioprine.
Prospective RCT of pharmacogenetic testing compared to standard care (Based at Manchester University).
Standard care : Currently Azathioprine introduced in a step-wise manner plus blood monitoring (Guidelines)
PGx test : 3 genetic variants (95%): TPMT*2, TPMT*3A, TPMT*3C
Study aims to examine the clinical and the cost-effectiveness of the two approaches
Proactive genetic diagnosis (Genetic counselling, DNA testing)
Incidental clinical diagnosis
Treatment for high risk individuals ( implantable cardioverter defibrillators (ICDs).
Basis of Markov Model High risk Clinical Tests (cascade) DNA Test ICD/ Drug if high risk HCM Low risk Mutation status Outcome of diagnostic Treatment strategy Do nothing Undetected Detected Surveillance if low risk Discharge/ surveillance Presentation Clinical Tests Diagnostic strategy Risk of SCD Clinical Tests (incidental)
Results and Conclusions
Incidental clinical diagnosis versus cascade genetic cascade diagnosis:
Incremental Cost-Effectiveness Ratio ( ICER) of £12,390 per life year saved
In this example, using genetic technology adds the ability to ide ntify asymptomatic but genetically at risk individuals and discharge those without mutation.
Genetic approach was more cost-effective than the non-genetic approach. This is because using genetic technology potentially avoids unnecessary deaths, although increases short-term health service costs.
Genomic Technologies in the NHS: Example of Microarrays in Idiopathic Learning Disability
An array (microarray/chip) is a solid surface, often a microscope slide onto which DNA etc is spotted. Considered expensive for NHA labs.
Comparative Genomic Hybridisation (aCGH)
Arrays are used to compare a control versus a test genome to look for differences in test genome.
Idiopathic Learning disability
In research proving particularly useful in ILD
Standard Testing: Karyotyping
In most NHS labs, standard testing for ILD uses Karyotyping.
Would aCGH be cost-effective in the NHS?
A Cost-effectiveness Analysis of aCGH in Idiopathic Learning Disability
Costs and effects (number of additional diagnoses) of an aCGH test versus cytogenetic analysis using Karyotyping compared.
4 laboratories (investigating ILD using aCGH, Karyotyping or both) contributed to detailed data collection:
Wellcome Trust Centre for Human Genetics, University of Oxford
Oxford Regional Cytogenetics laboratory
Birmingham Regional Genetics Laboratory
South East Scotland Cytogenetics laboratory
Array costs were based on Agilent Technologies Inc. 4 x 44K genome-wide oligonucleotide multi-sample format arrays
Resource use and costs for staff, equipment, consumables and overheads
Several testing and reporting scenarios were identified e.g FISH
Results and Conclusions
Basic cost comparison of aCGH and Karyotyping per sample
aCGH (£442) versus Karyotyping (£117)
Fuller cost comparison per sample
Hypothetical cohort of 100 ILD children:
aCGH cost per diagnosis (£4,626) versus
Karyotyping and multi-telomere FISH (£4,909).
Testing for genomic imbalances in ILD using microarray technology is likely to be cost-effective.
Long-term savings can be made regardless of a positive (diagnosis) or negative result.
Earlier diagnoses saves costs of additional diagnostic tests.
Value of Genetic Information: Discrete Choice Experiments
Quantitative survey method that can assess the value (benefits) of a good or service
What attributes do people think are important?
What is the rank order of the attributes?
Do people make trade-offs between the different attributes?
Aim: To identify which characteristics (attributes) of testing for inherited heart diseases patients value.
Patients offered genetic testing for inherited cardiac disease, which could lead to sudden cardiac death (hypertrophic cardiomyopathy, dilated cardiomyopathy and Long QT syndrome)
Sample Scenario 85% 65% Treatment Effectiveness £300 £500 Cost Lots Some Family Information 85% 70% Test Accuracy Test B Test A Scenario 8
Limited but growing health economics activity in genetics
The discipline can:
Provide an insight into whether a genetic technology is likely to be a good use of limited NHS resources
Provide an insight into whether or not patients (and health care professionals) value the information that the technology can provide.
ESRC funded economics of genetics seminar series
4 seminars 2006 – 2007
Aim: Bring together those working in the economics of genetics internationally.