you have recently set up a new disease service in your laboratory. what is the role of the ukgtn?...
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You have recently set up a new disease service in your laboratory.
What is the role of the UKGTN?Describe the process involved in submission &
evaluation of a gene dossier.
Joan Forsyth 18/9/[email protected]
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What is the UK Genetic Testing Network (UKGTN)
• Collaborative network of NHS labs that offer tests for human single gene germ disorders
• Aims to provide high quality and equitable laboratory services for patients and their families who require genetic advice, diagnosis and management.
• DoH supported establishment of UKGTN in 2002
• 2003 UKGTN established the NHS directory of Molecular Genetic Testing– Allow equity in access to genetic testing across NHS– Funding responsibility of local specialist groups (purchasers of
healthcare).
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Core functions UKGTN• Approval of labs for membership & audit of services provided
– Dev simple methods/documentation to collect relevant lab data, produce annual reports
• Evaluation & recommendation of new genetic tests to be included/deleted from directory
– constant review of gene dossiers• Establish robust arrangements for the provision of molecular genetic
services– Review of new developments & impact on NHS services, & identify
commissioning mechanisms/procedures/policies• Provide information on services of members• Monitor, develop & manage UKGTN website & include a directory of
test (levels of service)– ensuring fit for use by all relevant users & has appropriate links
• Evaluation of service development
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How is the UKGTN organised?
• Network managed by UKTGN Steering Group
– Members from a number of disciplines (clinical & molecular genetic, cytogenetics,DOH representatives, Genetic interest grps, NHS healthcare purchasers public health, Clinical Chemistry, Pathology, Biochemistry,Haematology, & reference labs)
• Subgroup of & accountable to National Genetics Commissioning Advisory Group (GenCAG)
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UKGTN project team• Pilot in 2003-16 labs submitted
85 GD, unexpected high number. To allow more time to consider applications a Project team introduced
• Includes project director, Lab coordinator, commissioning co-ordinator & 3 specialist advisors
• From 2006- 5 working groups have supported the steering group, each with members from relevant professional & patient groups
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Evaluation of new genetic tests• UKGTN defines a genetic test as “tests for single gene,
germ line disorders where nucleic acid is the analyte’
• Gene dossier (GD) process developed & a GD needs to be submitted for all tests the member wishes to offer to the network
• Standardised for the presentation of key information about the genetic test
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ACCE model
• GD based on four components evaluated (ACCE model) & the Canadian experience of genetic test evaluation:
Analytical validity
Clinical validity
Clinical utility
Ethical, legal and social issues (ELSi)
Genet Med. 2005 Sep;7(7):495-500
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Analytical Validity
• Defines the ability of a test to accurately and reliably measure the genotype(s) of interest– Sensitivity – probability the test will be positive when the mutation
is present
– Specificity – probability the test will be negative when the mutation is not present
• Linked to quality assurance (QA)– Internal – reference standards, SNP checking, transfer checks
– External – QA schemes, CPA registered laboratory
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Clinical Validity
• Defines ability to detect/predict the presence or absence of the phenotype or clinical disease– Sensitivity – probability the test will be positive in an affected
individual
– Specificity – probability the test will be negative in an unaffected individual
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Clinical Utility
• Defines the likelihood the test will lead to an improved outcome, & includes financial costs– Assessment or risk/benefits of genetic testing
– Economic evaluation (business case)
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ELSi
• Implications for relatives
• Insurance discrimination
• Stigmatisation based on genotype rather than phenotype
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The criteria used by the Evaluation Panel
• Clinical details/prevalence of the condition
• Particular purpose of the test – diagnosis, treatment, prognosis and management,
presymptomatic testing, risk assessment
• the complexity of the test
• Test criteria, clinical context in which test will be done-referrals from/population groups to be tested
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The criteria used by the Evaluation Panel
• ACCE framework
– the clinical sensitivity, specificity and predictive value of test
– the utility of the test – how it adds to patient management and the availability of alternative diagnostic procedures
– ethical, legal and social considerations
• Cost of the test
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Process• GD subgrp provides a summary back to steering group, which makes the final
decision on dossier.
• Issues encountered with gene dossier applications include:– Use of published data rather than actual lab data in analytical evaluation– Lack of knowledge/technical limitations so only a proportion mutations identified by on
test– Lack of analytical/validity data for significant no tests, because rare single gene disorder– Absence of controls in pilot studies/target pop poorly defined/estimates of disease
prevalence of disease in target pop not provided– Financial data difficult to obtain– Limited discussion of Elsi issues
• List of approved tests placed before GenCAG for acceptance into directory & request made to healthcare purchasers to consider funding these tests
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References
• How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network. European Journal of Human Genetics (2007) 15, 917–921.Mark Kroese, Ron L Zimmern, Peter Farndon, Fiona Stewart and Joanne Whittaker
• How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genet Med. 2005 Sep;7(7):495-500 Sanderson S, Zimmern R, Kroese M, Higgins J, Patch C, Emery J.
• www.ukgtn.nhs.uk.
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