Multi Criteria Decision Analysis to select priority diseases for Newborn blood screening : Supplement

43 p.ill.,SUPPLEMENT REPORT. 1 -- 1. FURTHER DETAILS ON NEWBORN BLOOD SCREENING IN BELGIUM 5 -- 1.1. STEERING COMMITTEE IN FWB 5 -- 1.2. STEERING COMMITTEE IN VG 6 -- 2. ORIGINAL CRITERIA AND WEIGHING FROM THE INESSS REPORT (CITATION FROM THE -- ORIGINAL FRENCH LANGUAGE VERSION). 6 -- 3. DISEASE INFORMATION ON BIOTINIDASE DEFICIENCY (LMCD). 7 -- 3.1. SPECIFIC DATA SOURCES FOR BIOTINIDASE DEFICIENCY 7 -- 3.2. BACKGROUND INFORMATION ON THE DISEASE (NOT TO BE SCORED) 7 -- 3.3. FREQUENCY OF THE DISEASE (INCIDENCE AND PREVALENCE) 7 -- 3.4. SEVERITY OF THE DISEASE IN UNTREATED CASES 8 -- 3.5. TIMELY AVAILABILITY OF THE TEST RESULTS. 8 -- 3.6. EFFICACY OF EARLY VS LATE TREATMENT 9 -- 3.7. PROBABILITY AND IMPACT OF FALSE POSITIVE RESULTS. 9 -- 3.8. PROBABILITY AND IMPACT OF FALSE NEGATIVE RESULTS 9 -- 3.9. IMPACT ON THE HEALTH CARE SYSTEM 9 -- 3.10. KEY POINTS FOR BIOTINIDASE DEFICIENCY. 9 -- 4. DISEASE INFORMATION ON CONGENITAL ADRENAL HYPERPLASIA (CAH) 10 -- 4.1. BACKGROUND INFORMATION ON THE DISEASE (NOT TO BE SCORED).10 -- 4.2. FREQUENCY (INCIDENCE AND PREVALENCE) 12 -- 4.3. SEVERITY OF THE DISEASE IN UNTREATED CASES. 13 -- 4.4. TIMELY AVAILABILITY OF THE TEST RESULTS 13 -- 4.5. EFFICACY OF EARLY VS LATE TREATMENT 13 -- 4.6. PROBABILITY AND IMPACT OF FALSE POSITIVE RESULTS 14 -- 4.7. PROBABILITY AND IMPACT OF FALSE NEGATIVE RESULTS14 -- 4.8. IMPACT ON THE HEALTH CARE SYSTEM 15 -- 4.9. KEY POINTS FOR CONGENITAL ADRENAL HYPERPLASIA.15 -- 5. DISEASE INFORMATION ON GALACTOSEMIAS (MAINLY GALT DEFICIENCY) 16 -- 5.1. SPECIFIC DATA SOURCES FOR GALACTOSAEMIA. 16 -- 5.2. BACKGROUND INFORMATION (NOT TO BE SCORED) 16 -- 5.3. FREQUENCY OF THE DISEASE (INCIDENCE AND PREVALENCE).18 -- 5.3.1. Frequency in other countries 18 -- 5.4. SEVERITY OF THE DISEASE IN UNTREATED CASES. 18 -- 5.5. TIMELY AVAILABILITY OF THE TEST RESULTS 19 -- 5.6. EFFICACY OF EARLY VS LATE TREATMENT 19 -- 5.7. PROBABILITY AND IMPACT OF FALSE POSITIVE RESULTS 19 -- 5.8. PROBABILITY AND IMPACT OF FALSE NEGATIVE RESULTS 20 -- 5.9. IMPACT ON THE HEALTH CARE SYSTEM 20 -- 5.10. KEY POINTS FOR GALACTOSAEMIA 20 -- 6. DISEASE INFORMATION ON HOMOCYSTINURIA (HCY) 21 -- 6.1. BACKGROUND INFORMATION (NOT TO BE SCORED) 21 -- 6.2. FREQUENCY OF THE DISEASE (INCIDENCE AND PREVALENCE).22 -- 6.3. SEVERITY OF DISEASE IN UNTREATED CASES 23 -- 6.4. TIMELY AVAILABILITY OF THE TEST RESULTS 23 -- 6.5. EFFICACY OF EARLY VS LATE TREATMENT 23 -- 6.6. PROBABILITY AND IMPACT OF FALSE POSITIVE RESULTS 24 -- 6.7. PROBABILITY AND IMPACT OF FALSE NEGATIVE RESULTS24 -- 6.8. IMPACT ON THE HEALTH CARE SYSTEM 25 -- 6.9. KEY POINTS FOR HOMOCYSTINURIA 25 -- 7. DISEASE INFORMATION ON TYROSINEMIA TYPE I (TYR I) 26 -- 7.1. BACKGROUND INFORMATION (NOT TO BE SCORED) 26 -- 7.2. FREQUENCY OF THE DISEASE (INCIDENCE AND PREVALENCE).27 -- 7.3. SEVERITY OF THE DISEASE IN UNTREATED CASES. 27 -- 7.4. TIMELY AVAILABILITY OF THE TEST RESULTS 27 -- 7.5. EFFICACY OF EARLY VS LATE TREATMENT 28 -- 7.6. PROBABILITY AND IMPACT OF FALSE POSITIVE RESULTS 28 -- 7.7. PROBABILITY AND IMPACT OF FALSE NEGATIVE RESULTS 28 -- 7.8. IMPACT ON THE HEALTH CARE SYSTEM 29 -- 7.9. KEY POINTS FOR TYROSINEMIA TYPE I 29 -- 8. DISEASE INFORMATION ON VERY LONG CHAIN ACYL COA DEHYDROGENASE DEFICIENCY (VLCAD DEFICIENCY) 31 -- 8.1. BACKGROUND INFORMATION ON THE DISEASE (NOT TO BE SCORED).31 -- 8.2. FREQUENCY (INCIDENCE AND PREVALENCE) 33 -- 8.3. SEVERITY OF THE DISEASE IN UNTREATED CASES. 34 -- 8.4. TIMELY AVAILABILITY OF THE TEST RESULTS 34 -- 8.5. EFFICACY OF EARLY VS LATE TREATMENT 35 -- 8.6. PROBABILITY AND IMPACT OF FALSE POSITIVE RESULTS 35 -- 8.7. PROBABILITY AND IMPACT OF FALSE NEGATIVE RESULTS36 -- 8.8. IMPACT ON THE HEALTH CARE SYSTEM OF SCREENING.36 -- 8.9. KEY POINTS FOR VLCAD DEFICIENCY 37 -- REFERENCES 3