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Colombian results of the interlaboratory quality control exercise 2013–2014
Accepted Manuscript Title: COLOMBIAN RESULTS OF THE INTERLABORATORY QUALITY CONTROL EXERCISE 2013-2014 Author: J.J. Builes A. Manrique D.P. Aguirre L. Mendoza M.L.J. Bravo V. Carmona C.H. Afanador M. Salgar M. Lopez L. Gusm˜ao PII: DOI: Reference:
S1875-1768(15)30052-4 http://dx.doi.org/doi:10.1016/j.fsigss.2015.09.072 FSIGSS 1069
To appear in: Received date: Accepted date:
18-8-2015 16-9-2015
Please cite this article as: J.J.Builes, A.Manrique, D.P.Aguirre, L.Mendoza, M.L.J.Bravo, V.Carmona, C.H.Afanador, M.Salgar, M.Lopez, L.Gusm˜ao, COLOMBIAN RESULTS OF THE INTERLABORATORY QUALITY CONTROL EXERCISE 2013-2014, Forensic Science International: Genetics Supplement Series http://dx.doi.org/10.1016/j.fsigss.2015.09.072 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
COLOMBIAN RESULTS OF THE INTERLABORATORY QUALITY CONTROL EXERCISE 2013-2014 J.J. Builes1,2 [email protected], A. Manrique1,3, D.P. Aguirre1, L. Mendoza1,4, M.L.J. Bravo1* [email protected], V. Carmona1,2, C.H. Afanador5, M. Salgar1,2, M. Lopez1, L. Gusmão6,7 1
GENES SAS Laboratory, Medellín, Colombia
2
Institute of Biology, University of Antioquia, Medellín, Colombia
3
School of Medicine, University of Campinas, São Paulo, Brazil
4
Universidad Pontificia Bolivariana, Medellín, Colombia
5
School of Medicine, University of Antioquia, Medellín, Colombia
6
IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Portugal
7
DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil
*
Corresponding author.
Abstract Currently, all agencies of conformity assessment testing laboratory favor the participation in proficiency testing as a mechanism for quality assurance. In Colombia, the Genes Laboratory has been designated, since 2008, to perform, design and implement the proficiency testing for all the interested laboratories. In this report, we show the results of Colombian exercises Inter-laboratory Quality Control for the years 2013 and 2014. In both years the exercise consisted in one practical component, one theoretical mandatory component and a theoretical optional component. The participants were 23 and 20 laboratories in 2013 and 2014, respectively, representing seven different countries of Latin America and the Caribbean. For the practical component each participant laboratory receive; (1) samples of blood, saliva and/or semen stains, in this part they should report the routine own laboratory markers for each sample, (2) three optional theoretical cases of varying complexity, (3) a simple theoretical approach consistent of paternity case (father, mother and son) (2013) and a complex paternity case with a deceased father (2014). In the last two components of the exercise they had to submit only the calculations. In both years, for the practical component the consensus of 70 STR markers, distributed between autosomal and linked to the sex chromosomes, was achieved with an error rate of 1.75% and 3.07% for 2013 and 2014, respectively. On the other hand, for mandatory theoretical exercise, error rates of 21.74% (2013) and 10.63% (2014) were detected. This inter-laboratory exercise has become an important mechanism for quality assurance in the region. Keywords: Quality Control Exercise; Colombia; Latin America; Genes SAS.
1. Introduction Interlaboratory comparisons are widely used for a number of purposes and their use is increasing internationally. In general terms these exercises are a tool that can be used by customers, regulators and by the same laboratory as a means of ensuring the quality of their essays. Colombian Reference National Laboratory, GENES SAS, have organized and coordinated since 2008 the Quality Control Exercise for laboratories undertaking paternity, maternity and forensic tests with DNA markers. Laboratories in Colombia, Argentina, Venezuela, Brazil, Ecuador, Peru, Republica Dominicana and Panama have participated in these exercises. In this report, the results of Colombian exercises Inter-laboratory Quality Control for the years 2013 and 2014 are presented. Twenty-three laboratories have participated in 2013, and 20 in 2014. 2. Materials and methods The laboratories received an invitation containing conditions, value and registration form for the exercise. Subsequently, we sent the samples for the enrolled laboratories, the results form and the instructions to make and report the results of exercise. In both years, the exercise consisted in one practical component, one theoretical mandatory component and a theoretical optional component. For the practical component each participant laboratory receive: (1) samples of blood, saliva and/or semen stains, in this part they should report the routine own laboratory markers for each sample, (2) three optional theoretical cases of varying complexity, (3) a simple theoretical approach consistent of paternity case (father, mother and son) (2013) and a complex paternity case with a deceased father (2014). In the last two components of the exercise, they had to submit only the calculations. For the theoretical exercises, the participating laboratories should calculate and submit the partial and final PI or BRI (Biological Relationship Index or Paternity Index). Consensus was established with a minimum of three (3) laboratories with the same genotyping for each marker, therefore the result must match 70% of the laboratories that send results to a marker. For analysis of the results were taken into account the findings from previous years [1,2,3] and the recommendations of both the ISFG [4] and the GHEP-ISFG [5]. 3. Results and discussion Twenty-three laboratories have participated in 2013, and 20 in 2014; representing seven different countries of Latin America and the Caribbean (Costa Rica, Colombia, Panama, Brazil, Ecuador, Peru and Dominican Republic). Among the 2118 genetic profiles reported in 2013 and two thousand one hundred and twenty in 2014, seventy markers were under consensus, they were distributed in autosomal, Y and X chromosomes STR (Table 1). In both years the gender marker amelogenin was under consensus. Only one laboratory analyzed mitochondrial DNA. With respect to 2012, 16 additional markers were under consensus in both years (2013 and 2014). The rate of reporting error was 1.75% in 2013 while in 2014, 3.07% error was reported. In 2013 all the 23 laboratories reported results for the mandatory exercise; 14 for the optional # 1, 16 for the optional #2 and 15 for the optional # 3. In 2014 from the 20 participating laboratories, 20 reported results for the mandatory exercise; 11 for the optional # 1, 13 for the optional #2 and 12 for the optional # 3. On the other hand, for mandatory theoretical exercise, error rates of 21.74% (2013) and 10.63% (2014) were detected. The National Reference Laboratory coordinated meetings to discuss the results and scheduled training for participants in study and application of Indels in forensic and population genetics and statistical calculations for complex biological relationships with X-chromosome markers. 4. Conclusion The Proficiency Test conducted through the Colombian National Reference Laboratory has become a useful tool for quality assurance of all Colombian laboratories and some of Latin America that perform DNA testing to establish biological relationships, also it is presented as an excellent opportunity for ongoing training of experts from the region. 5. Conflict of interest: None
References [1] J.J. Builes, D. Aguirre, A. Manrique et al., Results of the 2008 Colombian paternity testing quality control exercise, Forensic Sci. Int. Genet. Supl. Ser. 2 (2009) 93–94. [2] J.J. Builes, D. Aguirre, A. Manrique, et al., Colombian results of the interlaboratory Quality Control Exercise 2009–2010, Forensic Sci. Int. Genet. Supl. Ser. 3 (2011) e57–e58. [3] J.J. Builes, J.F. Castro, C.M. Velilla, et al, Results of Colombian exercise interlaboratory quality control 2012, Forensic Sci. Int. Genet. Supl. Ser. 4 (2013) e158–e159. [4] D.W. Gjertson, C.H. Brenner, M.P. Baur, et al. ISFG: Recommendations on biostatistics in paternity testing. Forensic Sci. Int. Genetics 1(3) (2007) 223-231. [5] J. Gómez, J. García-Hirschfeld, O. García, et al. GEP proficiency testing program in forensic genetics: 10 years of experience. International Congress Series 1261 (2004) 124–126.
Tables Table 1. List of STRs markers under consensus F13A01 F13B FES/FPS LPL CSF1PO TH01 TPOX
VWA FGA PENTA D PENTA E PENTA C SE33 D1S1656
D2S1338 D2S441 D3S1358 D5S818 D6S1043 D7S820 D8S1179
D10S1248 D12S391 D13S317 D16S539 D18S51 D19S433 D21S11
D22S1045 DYS19 DYS385 DYS389 I DYS389 II DYS390 DYS391
DYS392 DYS393 DYS437 DYS438 DYS439 DYS448 DYS456
DYS458 DYS635 GATAH4 DYS576 DYS481 DYS549 DYS533
DYS570 DYS643 HPRTB DXS8378 DXS9898 DXS7133 GATA31E08
GATA172D05 DXS7423 DXS6809 DXS7132 DXS9902 DXS6789 DXS10103
DXS10134 DXS10074 DXS10101 DXS10135 DXS10146 DXS10079 DXS10148
S1875-1768(15)30052-4 http://dx.doi.org/doi:10.1016/j.fsigss.2015.09.072 FSIGSS 1069
To appear in: Received date: Accepted date:
18-8-2015 16-9-2015
Please cite this article as: J.J.Builes, A.Manrique, D.P.Aguirre, L.Mendoza, M.L.J.Bravo, V.Carmona, C.H.Afanador, M.Salgar, M.Lopez, L.Gusm˜ao, COLOMBIAN RESULTS OF THE INTERLABORATORY QUALITY CONTROL EXERCISE 2013-2014, Forensic Science International: Genetics Supplement Series http://dx.doi.org/10.1016/j.fsigss.2015.09.072 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
COLOMBIAN RESULTS OF THE INTERLABORATORY QUALITY CONTROL EXERCISE 2013-2014 J.J. Builes1,2 [email protected], A. Manrique1,3, D.P. Aguirre1, L. Mendoza1,4, M.L.J. Bravo1* [email protected], V. Carmona1,2, C.H. Afanador5, M. Salgar1,2, M. Lopez1, L. Gusmão6,7 1
GENES SAS Laboratory, Medellín, Colombia
2
Institute of Biology, University of Antioquia, Medellín, Colombia
3
School of Medicine, University of Campinas, São Paulo, Brazil
4
Universidad Pontificia Bolivariana, Medellín, Colombia
5
School of Medicine, University of Antioquia, Medellín, Colombia
6
IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Portugal
7
DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil
*
Corresponding author.
Abstract Currently, all agencies of conformity assessment testing laboratory favor the participation in proficiency testing as a mechanism for quality assurance. In Colombia, the Genes Laboratory has been designated, since 2008, to perform, design and implement the proficiency testing for all the interested laboratories. In this report, we show the results of Colombian exercises Inter-laboratory Quality Control for the years 2013 and 2014. In both years the exercise consisted in one practical component, one theoretical mandatory component and a theoretical optional component. The participants were 23 and 20 laboratories in 2013 and 2014, respectively, representing seven different countries of Latin America and the Caribbean. For the practical component each participant laboratory receive; (1) samples of blood, saliva and/or semen stains, in this part they should report the routine own laboratory markers for each sample, (2) three optional theoretical cases of varying complexity, (3) a simple theoretical approach consistent of paternity case (father, mother and son) (2013) and a complex paternity case with a deceased father (2014). In the last two components of the exercise they had to submit only the calculations. In both years, for the practical component the consensus of 70 STR markers, distributed between autosomal and linked to the sex chromosomes, was achieved with an error rate of 1.75% and 3.07% for 2013 and 2014, respectively. On the other hand, for mandatory theoretical exercise, error rates of 21.74% (2013) and 10.63% (2014) were detected. This inter-laboratory exercise has become an important mechanism for quality assurance in the region. Keywords: Quality Control Exercise; Colombia; Latin America; Genes SAS.
1. Introduction Interlaboratory comparisons are widely used for a number of purposes and their use is increasing internationally. In general terms these exercises are a tool that can be used by customers, regulators and by the same laboratory as a means of ensuring the quality of their essays. Colombian Reference National Laboratory, GENES SAS, have organized and coordinated since 2008 the Quality Control Exercise for laboratories undertaking paternity, maternity and forensic tests with DNA markers. Laboratories in Colombia, Argentina, Venezuela, Brazil, Ecuador, Peru, Republica Dominicana and Panama have participated in these exercises. In this report, the results of Colombian exercises Inter-laboratory Quality Control for the years 2013 and 2014 are presented. Twenty-three laboratories have participated in 2013, and 20 in 2014. 2. Materials and methods The laboratories received an invitation containing conditions, value and registration form for the exercise. Subsequently, we sent the samples for the enrolled laboratories, the results form and the instructions to make and report the results of exercise. In both years, the exercise consisted in one practical component, one theoretical mandatory component and a theoretical optional component. For the practical component each participant laboratory receive: (1) samples of blood, saliva and/or semen stains, in this part they should report the routine own laboratory markers for each sample, (2) three optional theoretical cases of varying complexity, (3) a simple theoretical approach consistent of paternity case (father, mother and son) (2013) and a complex paternity case with a deceased father (2014). In the last two components of the exercise, they had to submit only the calculations. For the theoretical exercises, the participating laboratories should calculate and submit the partial and final PI or BRI (Biological Relationship Index or Paternity Index). Consensus was established with a minimum of three (3) laboratories with the same genotyping for each marker, therefore the result must match 70% of the laboratories that send results to a marker. For analysis of the results were taken into account the findings from previous years [1,2,3] and the recommendations of both the ISFG [4] and the GHEP-ISFG [5]. 3. Results and discussion Twenty-three laboratories have participated in 2013, and 20 in 2014; representing seven different countries of Latin America and the Caribbean (Costa Rica, Colombia, Panama, Brazil, Ecuador, Peru and Dominican Republic). Among the 2118 genetic profiles reported in 2013 and two thousand one hundred and twenty in 2014, seventy markers were under consensus, they were distributed in autosomal, Y and X chromosomes STR (Table 1). In both years the gender marker amelogenin was under consensus. Only one laboratory analyzed mitochondrial DNA. With respect to 2012, 16 additional markers were under consensus in both years (2013 and 2014). The rate of reporting error was 1.75% in 2013 while in 2014, 3.07% error was reported. In 2013 all the 23 laboratories reported results for the mandatory exercise; 14 for the optional # 1, 16 for the optional #2 and 15 for the optional # 3. In 2014 from the 20 participating laboratories, 20 reported results for the mandatory exercise; 11 for the optional # 1, 13 for the optional #2 and 12 for the optional # 3. On the other hand, for mandatory theoretical exercise, error rates of 21.74% (2013) and 10.63% (2014) were detected. The National Reference Laboratory coordinated meetings to discuss the results and scheduled training for participants in study and application of Indels in forensic and population genetics and statistical calculations for complex biological relationships with X-chromosome markers. 4. Conclusion The Proficiency Test conducted through the Colombian National Reference Laboratory has become a useful tool for quality assurance of all Colombian laboratories and some of Latin America that perform DNA testing to establish biological relationships, also it is presented as an excellent opportunity for ongoing training of experts from the region. 5. Conflict of interest: None
References [1] J.J. Builes, D. Aguirre, A. Manrique et al., Results of the 2008 Colombian paternity testing quality control exercise, Forensic Sci. Int. Genet. Supl. Ser. 2 (2009) 93–94. [2] J.J. Builes, D. Aguirre, A. Manrique, et al., Colombian results of the interlaboratory Quality Control Exercise 2009–2010, Forensic Sci. Int. Genet. Supl. Ser. 3 (2011) e57–e58. [3] J.J. Builes, J.F. Castro, C.M. Velilla, et al, Results of Colombian exercise interlaboratory quality control 2012, Forensic Sci. Int. Genet. Supl. Ser. 4 (2013) e158–e159. [4] D.W. Gjertson, C.H. Brenner, M.P. Baur, et al. ISFG: Recommendations on biostatistics in paternity testing. Forensic Sci. Int. Genetics 1(3) (2007) 223-231. [5] J. Gómez, J. García-Hirschfeld, O. García, et al. GEP proficiency testing program in forensic genetics: 10 years of experience. International Congress Series 1261 (2004) 124–126.
Tables Table 1. List of STRs markers under consensus F13A01 F13B FES/FPS LPL CSF1PO TH01 TPOX
VWA FGA PENTA D PENTA E PENTA C SE33 D1S1656
D2S1338 D2S441 D3S1358 D5S818 D6S1043 D7S820 D8S1179
D10S1248 D12S391 D13S317 D16S539 D18S51 D19S433 D21S11
D22S1045 DYS19 DYS385 DYS389 I DYS389 II DYS390 DYS391
DYS392 DYS393 DYS437 DYS438 DYS439 DYS448 DYS456
DYS458 DYS635 GATAH4 DYS576 DYS481 DYS549 DYS533
DYS570 DYS643 HPRTB DXS8378 DXS9898 DXS7133 GATA31E08
GATA172D05 DXS7423 DXS6809 DXS7132 DXS9902 DXS6789 DXS10103
DXS10134 DXS10074 DXS10101 DXS10135 DXS10146 DXS10079 DXS10148