PMID- 23086469
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130108
LR  - 20231106
IS  - 1868-310X (Print)
IS  - 1868-6001 (Electronic)
IS  - 1868-310X (Linking)
VI  - 4
IP  - 1
DP  - 2013 Jan
TI  - Genetics and public health: the experience of a reference center for diagnosis of 
      22q11.2 deletion in Brazil and suggestions for implementing genetic testing.
PG  - 99-106
LID - 10.1007/s12687-012-0123-z [doi]
AB  - Considering the prevalence of 22q11.2 deletion syndrome (22q11.2 DS) of around 
      1:4,000 and of palatal abnormalities in 70 % of the cases of 22q11.2 DS and 
      taking into account the Brazilian health system and its current situation of 
      medical genetic services, this study aims to contribute to establish strategies 
      for genetic diagnosis. The access to genetic testing at 11 services was 
      investigated and samples from 100 patients with palatal abnormalities and 
      suspicion of 22q11.2 DS were sent to a reference center. Laboratorial techniques 
      included karyotyping, fluorescence in situ hybridization (FISH), and multiplex 
      ligation-dependent probe amplification. Costs were also calculated. Disparities 
      among centers for genetic diagnosis were evident, with remarkable regional 
      differences. Some of the obstacles encountered were difficulties for families to 
      show up for medical appointments, complementary evaluations, and for the clinics 
      to send the samples to the reference center. A conclusive diagnosis was reached 
      for 38 % of patients. Combination of karyotyping and FISH had better laboratorial 
      cost-effectiveness. These results might represent the reality for the 
      investigation of other genetic conditions. Clinical and laboratorial approaches 
      herein presented could be adapted for use under different genetic conditions in 
      the Brazilian health system, which has relatively limited financial and human 
      resources. Suggestions for the rational implementation of genetic testing in 
      developing countries are presented.
FAU - Vieira, Tarsis Paiva
AU  - Vieira TP
AD  - Department of Medical Genetics, University of Campinas, Rua Tessalia Vieira de 
      Camargo, 126, CEP 13083-887, Campinas, SP, Brazil.
FAU - Sgardioli, Ilaria Cristina
AU  - Sgardioli IC
FAU - Gil-da-Silva-Lopes, Vera Lucia
AU  - Gil-da-Silva-Lopes VL
LA  - eng
PT  - Journal Article
DEP - 20121021
PL  - Germany
TA  - J Community Genet
JT  - Journal of community genetics
JID - 101551501
PMC - PMC3537976
EDAT- 2012/10/23 06:00
MHDA- 2012/10/23 06:01
PMCR- 2013/01/01
CRDT- 2012/10/23 06:00
PHST- 2012/05/02 00:00 [received]
PHST- 2012/10/03 00:00 [accepted]
PHST- 2012/10/23 06:00 [entrez]
PHST- 2012/10/23 06:00 [pubmed]
PHST- 2012/10/23 06:01 [medline]
PHST- 2013/01/01 00:00 [pmc-release]
AID - 123 [pii]
AID - 10.1007/s12687-012-0123-z [doi]
PST - ppublish
SO  - J Community Genet. 2013 Jan;4(1):99-106. doi: 10.1007/s12687-012-0123-z. Epub 
      2012 Oct 21.