Molecular Pathology Evaluation Panel - Test Submission Form

Molecular Pathology Evaluation Panel

Test Submission Form

  1. ADMINISTRATIVE DETAILS

1.1.Submission date
1.2.Provider laboratory/ Laboratories
1.3.Director/head of laboratory
1.4.Laboratory address
1.5.Name and job title of person completing submission
1.6.Contact telephone number
1.7.Email address
1.8.Name of pathologist/genetic collaborator
1.9.Contact telephone number
1.10.Email address
1.11.Name of clinical collaborator/co-applicant
1.12.Contact telephone number
1.13.Email address
1.14.Declaration(s) of interest
Any persons contributing to the completion of this form must declare any interests that they may have in the submission of the test in question.
  1. TEST – DISEASE/CONDITION – POPULATION TRIAD

2.1.Disease/condition
Please provide a brief description in laymen’s terms of the characteristics of the disease/condition, affected patient cohort and prognosis.
2.2.Proposed patient cohort for testing
2.3.Gene(s)
Approved name(s) and symbol as published on HUGO database.
2.4.Relevance of the test
Please include background information and rationale for the development of the test.
2.5.Technical method(s)
Please provide details of the assay(s) proposed.
2.6.Validation process
Please explain how this test has been validated for use in your laboratory.
2.7.Estimation of workload
This will be decided as a Consortium in line with UKGTN developments in the area.
2.8.Mutational spectrum
Please provide details of known common mutations.
2.9.Are you already providing this test for this disorder? / No Yes
If yes, please give details of the annual activity for this test in your laboratory.
  • How many reports are produced?

  • Number of reports with mutation positive

  • Number of reportswith mutation negative

2.10.Are you providing an alternative test for this disorder? / No Yes
If yes, please provide details of the test:
  • Test name

  • Has this test been evaluated by the Molecular Pathology Evaluation Panel?

  • How long have you been providing this test?

2.11.Is there specialised local clinical/research/laboratory level expertise for this disease? / No Yes
If yes, please provide details.
2.12.Are you providing this test for other gene(s)/disease(s)/
condition(s)? / No Yes
If yes, please give details:
  • Name(s) of gene(s)/disorder(s) that this test is provided for

  • Has this test been evaluated by the Molecular Evaluation Panel?

  • Current annual activity (i.e. number of tests)

  • Performance in these and relevant EQA schemes

2.13.Based on experience/data how many tests would be required annually in Scotland?
Identify and reference information on which the estimate is based.
2.14.How many tests will you be able to provide annually in your laboratory.
2.15.Does this cover the likely regional or national need for this test?
2.16.If your laboratory is unable to provide the full need for Scotland, please provide information on how the national requirement may be met.
This will be discussed at the Molecular Pathology Consortium
  1. EPIDEMIOLOGY

3.1.Estimated incidence/prevalence of condition in the target population to whom the test applies.
The target population is the group of people that meet the minimum criteria for testing as listed in the Testing Criteria. Please provide references to data and relevant research where possible.
3.2.Estimated positive predictive value, clinical sensitivity and negative predictive value of test.
Please identify the information on which this is based (if applicable). In molecular pathology the issue of relevance is the likelihood that a positive test result (e.g. presence of a gene mutation in tumour tissue) will confer resistance / sensitivity to the drug of interest.
3.3.What proportion of all relevant mutations will be detected by the proposed method?
3.4.How will the laboratory demonstrate that relevant material has been studied, and that sufficient tumour is present for exclusion of a relevant mutation?
3.5.If the mutation(s) in question are detected what is the probability of successful treatment?
  1. CLINICAL VALIDITY

Please tick all the relevant purposes of testing. It is helpful when completing the Mol Path Testing Submission, to consider which of these clinical management areas the test is likely to enhance. These will be considered by the panel in the evaluation of the proposed test.
If this test is required to stratify a drug treatment, please cite the relevant SMC submission.
4.1.Diagnosis / Yes No
If yes, please provide details:
  • Can a diagnosis be made for certain by any other method?

  • Will a molecular diagnosis remove the need to do other tests?

4.2.Treatment / Yes No
If yes, please give details:
  • Will a specific molecular diagnosis affect treatment?

  • If this test is required to stratify a drug treatment, please cite the relevant SMC submission.

4.3.Prognosis & management / Yes No
If yes, please give detail:
  • Is there evidence in this disease that a specific molecular sub-type will affect prognosis and management to a significant extent?

  • Will the result significantly affect the lifestyle choices of the patient or the family?

  • Will the additional evidence on prognosis alter subsequent treatment? If so, how?

4.4.Disease monitoring
Will molecular diagnosis provide a means to assess disease status in the patient / Yes No
4.5.Other / Yes No
If yes, please give details
  1. ANALYTICAL VALIDITY

5.1.Analytical sensitivity and specificity
This should be based on your own laboratory data for the specific test being applied for or the analytical sensitivity and specificity of the method/technique to be used in the case of a test yet to be set up.
5.2.Testing pathway for tests where more than one gene is to be tested
Please include your testing strategy if more than one gene will be tested and data on the expected proportions of positive results for each part of the process. Please illustrate this with a flow diagram.
  1. CLINICAL UTILITY

6.1.How will the test add to the management of the patient or alter clinical outcome?
6.2.Please provide a summary of the overall benefits of the test.
6.3.Is there an alternative means of diagnosis or prediction that does not involve molecular diagnosis? If so (and in particular if there is a biochemical test), please state the added advantage of the molecular test.
6.4.Describe any ethical, legal or social issues with this particular test.
6.5.Testing criteria
Are testing criteria published? / Yes No
If yes, please state the source.
Do you agree with these testing criteria? / Yes No
Please explain why you think that they should be/should not be followed.
6.6.If you do not agree with the published testing criteria, please outline your alternative criteria below.
  1. COST EFFECTIVENESS

7.1.Costs of test
The costs should reflect the resources that will be required to undertake the test e.g. staffing, consumables etc.
Price per test
£ / Expected national activity
Number / Total cost of testing for national activity
£
7.2.Intellectual property
Are there intellectual property issues related to this test? / No Yes
In particular, are there UK licensing requirements for the provision of this test met? / No Yes
Please provide details of any issues identified.
7.3.Savings or investment per annum in the diagnostic pathway based on national expected activity, cost of diagnostics avoided and cost of genetic test.Please provide calculations.
7.4.If there are cost savings, please provide these below. List the diagnostic tests/procedures/ treatments that would no longer be required with costs.
7.5.List any tests/procedures/interventions that will be required due to the introduction of the test. If this test is required to stratify a drug treatment, please cite the relevant SMC submission.
7.6.If the test is currently provided from laboratories elsewhere in the UK, please state the name of the laboratory and the cost of the test.
8. PATHWAY OF CLINICAL CARE

Testing Criteria

Approved name and symbol of disease/condition(s): / OMIM number(s):
Approved name and symbol of gene(s): / OMIM number(s):
Patient name: / Date of birth:
Patient postcode: / CHI number:
Name of referrer:
Title/Position: / Lab ID:
Referrals will only be accepted from one of the following:
Note for completion: please list the types of referrers for appropriate requests for testing (e.g. consultant clinical geneticists, consultant paediatric neurologists etc).
Referrer / Tick if this refers to you.
Minimum criteria required for testing to be appropriate as stated in the Gene Dossier:
Note for completion: please insert the criteria for testing e.g. list clinical symptoms and other investigations that would be expected to have been carried out prior to the DNA test and the results required to make the referral appropriate. Please specify the relationship between criteria using keywords e.g. and, or, at least N of the following. Examples to help in the completion of this are available on the UKGTN website. The boxes can be expanded and rows can be added.
Criteria / Tick if this patient meets criteria
If the sample does not fulfil the clinical criteria or you are not one of the specified types of referrer and you still feel that testing should be performed please contact the laboratory to discuss testing of the sample.

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