Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider

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1 Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider TEST DISEASE/CONDITION POPULATION TRIAD Submitting laboratory: Cambridge RGC Approved: September Disease/condition approved name and HYPERFERRITINEMIA WITH OR WITHOUT symbol as published on the OMIM CATARACT database (alternative names will be listed on the UKGTN website) 2. OMIM number for disease/condition Disease/condition please provide a brief description of the characteristics of the disease/condition and prognosis for affected individuals. Please provide this information in laymen s terms. 4. Disease/condition mode of inheritance Autosomal dominant 5. Gene approved name(s) and symbol as published on HUGO database (alternative names will be listed on the UKGTN website) 6. OMIM number for gene(s) HHCS is a rare disorder characterized by early cataract formation and high serum ferritin. There is no evidence of iron overload and the transferrin saturation is normal to distinguish from haemochromatosis type 1 (HFE) and type 4 (ferroportin). Survival is normal but cataract formation is predictable and treatable when it forms. The condition is due to mutations in the 5-primed noncoding region of the L-Ferritin gene resulting in increased production of the L-Ferritin subunit; this non-coding region normally acts as an iron responsive element which binds iron to suppress L-Ferritin synthesis. NB mutations within the FTL gene itself are associated with a neurodegenerative disorder. ferritin, light polypeptide; FTL 7. Gene description(s) Chromosome 19q base pair stem loop forms the 5-UTR of FTL (corresponding to L-Ferritin iron response element) where mutations associated with HHCS are located 7b. Number of amplicons to provide this 1 test 7c. MolU/Cyto band that this test is B assigned to 8. Mutational spectrum for which you test including details of known common mutations 5-UTR only 146A-G (HGVS nomenclature c.-160a>g) 9. Technical method(s) DNA Sanger sequencing 10. Validation process Please explain how this test has been validated for use in your laboratory An HHCS family was previously typed in our laboratory. Current strategies and methodologies used for other UKGTN approved tests offered by this laboratory will be used to validate the test for service use.

2 11a. Are you providing this test already? Yes (only C282Y and H63D as standard) 11b. If yes, how many reports have you produced? N/A 11c. Number of reports mutation positive N/A 11d. Number of reports mutation negative N/A 12. For how long have you been providing this service? N/A 13a. Is there specialised local clinical/research expertise for this disease? Yes 13b. If yes, please provide details Prof TM Cox and Dr WJH Griffiths are international experts in this field 14. Are you testing for other genes/diseases/conditions closely allied to this one? Please give details Yes as well as the 2 common mutations in HFE, we provide a unique UKGTN testing service for mutations in HFE2A, HFE2B (juvenile haemochromatosis) and Your current activity If applicable - How many tests do you currently provide annually in your laboratory? 15a. Index cases 15b. Family members where mutation is known Your capacity if Gene Dossier approved How many tests will you be able to provide annually in your laboratory if this gene dossier is approved and recommended for NHS funding? 16a. Index cases 5 16b. Family members where mutation is 5 known Based on experience how many tests will 10 be required nationally (UK wide) per annum? HFE4 (ferroportin disease) N/A for L-Ferritin 10 Clinical experience and discussion with colleagues in the UK 17a. Index cases 5 17b. Family members where mutation is 5 known 18. National activity (England, Scotland, We will be able to provide a UK-wide service as for Wales & Northern Ireland) HFE2 and HFE4 If your laboratory is unable to provide the full national need please could you provide information on how the national requirement may be met. For example, are you aware of any other labs (UKGTN members or otherwise) offering this test to NHS patients on a local area basis only? This question has been included in order to gauge if there could be any issues in equity of access for NHS patients. It is appreciated that some laboratories may not be able to answer this question. If this is the case please write unknown.

3 EPIDEMIOLOGY 19. Estimated prevalence of condition in the general UK population 20. Estimated gene frequency (Carrier frequency or allele frequency) 21. Estimated penetrance 22. Estimated prevalence of condition in the target population. The target population is the group of people that meet the minimum criteria as listed in the Testing Criteria. Rare <1/10000 Rare < % on published cases though limited data 100% (limited data) INTENDED USE 23. Please tick the relevant clinical purpose of testing Diagnosis X Yes No Treatment Yes X No Prognosis & management X Yes No Presymptomatic testing Yes X No Carrier testing for family members X Yes No Prenatal testing Yes X No

4 TEST CHARACTERISTICS 24. Analytical sensitivity and specificity This should be 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. Bi-directional sequencing coupled with Mutation Surveyor software has a quoted sensitivity of >99% and specificity of >99% 25. Clinical sensitivity and specificity of test in target population The clinical sensitivity of a test is the probability of a positive test result when condition is known to be present; the clinical specificity is the probability of a negative test result when disease is known to be absent. The denominator in this case is the number with the disease (for sensitivity) or the number without condition (for specificity). Comprehensive data not available. Specificity likely to be high if cases selected appropriately. 26. Clinical validity (positive and negative predictive value in the target population) The clinical validity of a genetic test is a measure of how well the test predicts the presence or absence of the phenotype, clinical condition or predisposition. It is measured by its positive predictive value (the probability of getting the condition given a positive test) and negative predictive value (the probability of not getting the condition given a negative test). The positive predictive value is likely to be high if used in cases meeting testing criteria. The negative predictive value is likely to be high if used for screening family members 27. 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. N/A if meet criteria CLINICAL UTILITY 28. How will the test add to the management of the patient or alter clinical outcome? The test will secure diagnosis in suspected index cases and reinforce the need for specialist ophthalmological input. The test will avoid the need for unnecessary and risky investigations into hyperferritinemia such as liver biopsy as well as unwarranted venesection treatment. The test can be used to screen family members to determine those at risk of cataract formation and allow pre-emptive evaluation of eyesight. 29. How will the availability of this test impact on patient and family life? The test will avoid the need for unnecessary and risky investigations into hyperferritinemia such as liver biopsy as well as unwarranted venesection treatment. The test can be used to screen family members to determine those at risk of cataract formation and allow pre-emptive evaluation of eyesight. The test should not impact adversely on patient and family life if used in conjunction with appropriate genetic counselling. 30. Benefits of the test Please provide a summary of the overall benefits of this test. The test will enable accurate diagnosis of HHCS and unnecessary investigations / interventions. 31. 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. The diagnosis cannot be proven, only suspected, without genetic analysis.

5 32. Please describe any specific ethical, legal or social issues with this particular test. Due to the high penetrance of the clinical phenotype there are no specific ethical, legal or social issues. 33. The Testing Criteria must be completed where Testing Criteria are not already available. If Testing Criteria are available, do you agree with them Yes If No: Please propose alternative Testing Criteria AND please explain here the reasons for the changes. 34. Savings or investment per annum in the diagnostic pathway on national expected activity, cost of diagnostics avoided and cost of genetic test. Please show calculations. For 5 index cases the cost of diagnostics = 5 x 1569 = 7845 Cost of HHCS test = 5 x 145 = 725 Screening of siblings = further 725 Savings per annum = = 6395 NB Further savings by avoiding inappropriate phlebotomy treatment as this is commonly instituted for high ferritin due to erroneous diagnosis of haemochromatosis. Difficult to quantify but can be in excess of 10,000 per patient 35. List the diagnostic tests/procedures that would no longer be required with costs. N/A Costs and type of imaging procedures MRI 142 Costs and types of laboratory pathology tests HFE4 295 (other than molecular/cyto genetic proposed in this gene dossier) Costs and types of physiological tests (e.g. ECG) Cost and types of other investigations/procedures (e.g. biopsy) LIVER BIOPSY 1132 Total cost tests/procedures no longer required REAL LIFE CASE STUDY In collaboration with the clinical lead, describe a real case example to illustrate how the test would improve patient experience. A 32 year man presented with a high serum ferritin (1200 mcg/l) on routine testing. He had a family history of early cataract formation. No one in the family was aware of the possibility of HHCS. Family members gave blood samples for further analysis and the condition was confirmed on sequencing the 5-UTR of the L-ferritin gene. Family members who had wild-type sequence were reassured that they were not at risk of developing the condition. Family members who were positive were given appropriate counselling and ophthalmological referral where appropriate. The index case did not require invasive testing for iron overload and did not have to endure prolonged phlebotomy treatment which is often instituted in the setting of a markedly raised ferritin. The family were overall pleased to understand that a firm diagnosis could be made to explain the cataract formation. 37. For the case example, if there are cost savings, please provide these below: Cost savings come from not having to perform MRI, liver biopsy and genetic tests for causes of atypical iron overload such as HFE4. However the extent to which these tests would be performed depends on the clinician and availability of specialist investigations. PRE GENETIC TEST Costs and type of imaging procedures MRI 145 Costs and type of laboratory pathology tests HFE4 295 (other than molecular/cyto genetic proposed in this gene dossier) Costs and type of physiological tests (e.g. ECG) Cost and type of other investigations/procedures (e.g. biopsy) LIVER BIOPSY 1132 Cost outpatient consultations (genetics and non genetics) Total cost pre genetic test 1569

6 POST GENETIC TEST Costs and type of imaging procedures Costs and types laboratory pathology tests (other than molecular/cyto genetic proposed in this gene dossier) Cost of genetic test proposing in this gene dossier Costs and type of physiological tests (e.g. ECG) Cost and type of other investigations/procedures (e.g. biopsy) Cost outpatient consultations (genetics and non genetics) Total cost post genetic test 38. Estimated savings for case example described (for HHCS test) = NB This excludes venesection cost which is variable but if instituted in error due to lack of precise diagnosis could be in excess of 10,000

7 UKGTN Testing Criteria Approved name and symbol of disease/condition(s): Hyperferritinemia with or without Cataract Approved name and symbol of gene(s): ferritin, light polypeptide; FTL OMIM number(s): OMIM number(s): Patient name: Patient postcode: Date of birth: NHS number: Name of referrer: Title/Position: Lab ID: Referrals will only be accepted from one of the following: Referrer Clinical Geneticists Consultant Hepatologist Tick if this refers to you. Minimum criteria required for testing to be appropriate as stated in the Gene Dossier Criteria Raised serum ferritin AND Normal transferrin saturation AND History of and/or family history of early cataracts OR At risk family members where familial mutation is known 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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