Screening for Metabolic Diseases in Public Health System in Brazil

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1 Screening for Metabolic Diseases in Public Health System in Brazil Paula R. Vargas Technical Advisory Committee in Newborn Screening Health Ministry Brazil

2 LATIN AMERICA - 20 countries - Great diversity: geographic, demographic, ethnic, economic, health system.

3 TOTAL AREA (Km 2 ): Brazil Argentina México Perú Colombia Bolivia Venezuela Chile Paraguay Ecuador % Uruguay Nicaragua Honduras Cuba Guatemala Panamá Costa Rica Dominicana Haití El Salvador

4 POPULATION: inhab. Brazil México Colombia Argentina Perú Venezuela Chile Ecuador Guatemala Cuba % Bolivia Haití Dominicana Honduras El Salvador Paraguay Nicaragua Costa Rica Uruguay Panamá

5 NEWBORNS / YEAR: Brazil México Colombia Argentina Perú Venezuela Guatemala Ecuador Haití Bolivia % 19 % Chile Dominicana Honduras Paraguay El Salvador Nicaragua Cuba Costa Rica Panamá Uruguay

6 Newborn Screening in Brazil: Some Difficulties 8,511,965 km² 187,552,942 inhabitants 20.5 inhabitants/km² 3,552,992 births per year 27 states in 5 different regions

7 Population - Brazil

8 Demographic Density - Brazil

9 College Degree - Brazil

10 Weather - Brazil

11 NBS Brazil (began in1976) Difficulties: - heterogeneity of screened pathologies - absence of standardised routines - low population coverage - lack of economic resources and public health funding - other health problems considered priorities over NBS - lack of integration NBS health care system (70-80% dependent of public health system) - economic restritions for expansion of panel - lack of education about NBS

12 NBS BRAZIL In Public Heatlh System (Health Ministry): No registry about diseases panel No registry about nº of patients No registry about treatment / follow-up Only one registry: nº of tests payed!

13 NBS - Brazil Jan / 2001 NORTH 47 % NORTHEAST 24% CENTRAL WEST 27% SOUTHEAST 82% SOUTH 70%

14 NBS BRAZIL June 2001 Creation of National Newborn Screening Program (NNSP) Health Ministry Decree Federal resources allocation for new actions - neonatal screening - diagnostic confirmation - treatment and follow-up

15 NNSP Objectives - Achieve 100% coverage of live births - Define and broaden the screened disorders spectrum - Implement and standardise the child care - Increase the resources allocation - Partnership: federal/state/regional - Ordering and guiding the health actions: Newborn Screening Reference Services (NSRS)

16 Newborn Screening Reference Services (NSRS)

17 Newborn Screening Reference Services (NSRS) Multidisciplinary Approach Minimum NSRS team: endocrinologist pediatrician nutricionist psychologist social worker

18 National Newborn Screening Program (NNSP) Current test panel includes screening for PKU, congenital hypothyroidism, hemoglobinopathies and cystic fibrosis. NNSP recommended step-wise expansion: - Phase 1 : PKU + CH - Phase 2 : PKU + CH + HB - Phase 3 : PKU + CH + HB + CF

19 NNSP

20 NNSP Results (1) Establishment of NSRS in 27 states (100 %) New 34 accredited NSRS working in the NNSP Quantitative increase of national coverage Greater procedure uniformity among the states Children detected in NNSP now have guaranteed assistance, follow-up and medications needed for the treatment.

21 NNSP Coverage Results (2) Journal of Inherited Metabolic Disease, August 2007, Volume 30, Number 4, p ISSN: (Print) (Online)

22 Newborn Screening Brazil NORTH 47% 86% NORTHEAST 24% 68 % CENTRAL WEST 27% 83% SOUTHEAST 82% 89% SOUTH 70% 87% Journal of Inherited Metabolic Disease, August 2007, Volume 30, Number 4, p ISSN: (Print) (Online)

23 NNSP Results (4) 2001/2006 Screened Diseases PKU (1:25,326) CH (1: 2,457) SC (1: 1,917) CF (1:10,975) Total New Cases ( ) 742 4,364 5, ,722 NSRS treatment (2005) 2,184 10,316 6, ,880 Journal of Inherited Metabolic Disease, August 2007, Volume 30, Number 4, p ISSN: (Print) (Online)

24 NNSP 7 years enabled us to: Perform epidemiologic study of the selected diseases Educate health workers and students (multidisciplinary team) for research, detection, prevention and treatment in this area Give support treatment to the detected patients and genetic counselling to their families Evaluate the need of neonatal screening for other diseases

25 NBS Brazil - Conclusions Despite great disparity, last seven years: implementation of public health program increase in coverage expansion of NBS panel increase in governmental involvement integration: NBS teams scientific societies external quality assurance (CDC)

26 NBS Brazil - Future coverage of 100% newborn expansion of NBS panel phases evolution increase in NNSP quality - pre-analytical aspects - post-analytical management Tandem Mass Spectrometry

27 Thank You! Technical Group of Consultants in Newborn Screening Health Ministry, Brazil Paula Vargas - Porto Alegre (RS) Tania Marini de Carvalho - São Paulo (SP) Helena Pimentel - Salvador (BA)

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