cgpp-ibmc: first portuguese laboratory accredited for ...€¦ · cgpp-ibmc: first portuguese...
TRANSCRIPT
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RESULTS
INTRODUCTION
MATERIAL & METHODS
CONCLUSIONS
CGPP implemented an internal quality
management system, complying with the
requirements of ISO 15189 and the OCDE
guidelines, and only performs tests with proven
analytical and clinical validity and utility, in
accordance with the recommendations of
international organizations (OCDE, Council of
Europe).
Susana Sousa1, Isabel Alonso1,2,
Jorge Sequeiros1,2,3
1CGPP e 2UnIGENe, IBMC, Porto; 3ICBAS, Universidade do Porto
Quality requirements are particularly high in
genetic testing, as tests are normally performed
once in a patient’s lifetime, increasing the potential
harm of errors, their results having major
implications for patients and their relatives.
The OECD Guidelines for Quality Assurance in
Molecular Genetic Testing aim to improve quality,
recommending that “laboratories reporting
molecular genetic testing results for clinical care
purposes should be accredited or hold an
equivalent recognition”.
Accreditation is a procedure by which an
authoritative body (IPAC) gives formal recognition
that an entity or person is competent to carry out
specific tasks.
The ISO 15189 is the preferred and the most
demanding standard for genetic testing laboratories
(EuroGentest and ESHG), as it emphasizes the
quality of contributions to patient care, in addition
to laboratory and management procedures.
CGPP-IBMC: First Portuguese laboratory accredited for neurogenetic diseases
o Accreditation is instrumental to improve a laboratory’s quality, including the reduction of the turn-around-time (TAT);
o Accreditation allows also to convey a greater confidence in the reported results, as well as in their analytical and clinical
interpretation;
o Accreditation (formally and officially) recognizes technical and scientific competence, facilitates exchange of services,
provides a valuable management tool and enhances the confidence that the needs and requirements of clinicians, patients and
families are met.
CGPP – Centro de Genética Preditiva e Preventiva
http://www.cgpp.eu
Gestão da Qualidade: [email protected]
1. QUALITY AND TECHNICAL REQUIREMENTS EVALUATED 2. TESTS AND METHODOLOGIES INCLUDED IN THE ACCREDITATION SCOPE
0
20
40
60
80
100
120
140
14-01-2013 14-02-2013 14-03-2013 14-04-2013 14-05-2013 14-06-2013 14-07-2013 14-08-2013 14-09-2013 14-10-2013 14-11-2013 14-12-2013
TAT
Date of report
Machado-Joseph Disease
3. EXAMPLES OF QUALITY INDICATORS EVALUATED 4. EXAMPLE OF GENETIC TEST REPORT
genetic tests methodology
SCAs Fragment analysis
Huntington Fragment analysis
FRDA Fragment analysis
PAF RFLP
Wilson PCR and sequencing
CMT1A MLPA
HFE Hybridization
http://www.cgpp.eumailto:[email protected]:[email protected]:[email protected]:[email protected]