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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

ABSTRACT: Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially 'atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis.

SUBMITTER: Traeger-Synodinos J

PROVIDER: S-EPMC4666573 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature

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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

Traeger-Synodinos Joanne J Harteveld Cornelis L CL Old John M JM Petrou Mary M Galanello Renzo R Giordano Piero P Angastioniotis Michael M De la Salle Barbara B Henderson Shirley S May Alison A

European journal of human genetics : EJHG 20140723 4

Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially 'atypical' cas ...[more]

PMID: 25052315

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Project description:The molecular diagnosis of Y-chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and severe oligozoospermic men. Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have been actively involved in supporting the improvement of the quality of the diagnostic assays by publication of the laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions and by offering external quality assessment trials. The present revision of the 2004 laboratory guidelines summarizes all the clinical novelties related to the Y chromosome (classic, partial and gene-specific deletions, genotype-phenotype correlations, methodological issues) and provides an update on the results of the quality control programme. These aspects also reflect the consensus of a large group of specialists present at a round table session during the recent Florence-Utah-Symposium on 'Genetics of male infertility' (Florence, 19-21 September, 2013). During the last 10 years the gr/gr deletion has been demonstrated as a significant risk factor for impaired sperm production. However, the screening for this deletion type in the routine diagnostic setting is still a debated issue among experts. The original basic protocol based on two multiplex polymerase chain reactions remains fully valid and appropriate for accurate diagnosis of complete AZF deletions and it requires only a minor modification in populations with a specific Y chromosome background. However, in light of novel data on genotype-phenotype correlations, the extension analysis for the AZFa and AZFb deletions is now routinely recommended. Novel methods and kits with excessively high number of markers do not improve the sensitivity of the test, may even complicate the interpretation of the results and are not recommended. Annual participation in an external quality control programme is strongly encouraged. The 12-year experience with the EMQN/EAA scheme has shown a steep decline in diagnostic (genotyping) error rate and a simultaneous improvement on reporting practice.

Project description:BackgroundThe use of best practice guidelines (BPGs) has the potential to decrease the gap between best evidence and nursing and healthcare practices. We conducted an exploratory mixed method study to identify strategies, processes, and indicators relevant to the implementation and sustainability of two Registered Nurses' Association of Ontario (RNAO) BPGs at Best Practice Spotlight Organizations® (BPSOs).MethodsOur study had four phases. In Phase 1, we triangulated two qualitative studies: a) secondary analysis of 126 narrative reports detailing implementation progress from 21 BPSOs spanning four sectors to identify strategies and processes used to support the implementation and sustainability of BPGs and b) interviews with 25 guideline implementers to identify additional strategies and processes. In Phase 2, we evaluated correlations between strategies and processes identified from the narrative reports and one process and one outcome indicator for each of the guideline. In Phase 3, the results from Phases 1 and 2 informed indicator development, led by an expert panel. In Phase 4, the indicators were assessed internally by RNAO staff and externally by Ontario Health Teams. A survey was used to validate proposed indicators to determine relevance, feasibility, readability, and usability with knowledge users and BPSO leaders.ResultsTriangulation of the two qualitative studies revealed 46 codes of implementation and sustainability of BPGs, classified into eight overarching themes: Stakeholder Engagement, Practice Interventions, Capacity Building, Evidence-Based Culture, Leadership, Evaluation & Monitoring, Communication, and Governance. A total of 28 structure, process, or outcome indicators were developed. End users and BPSO leaders were agreeable with the indicators according to the validation survey.ConclusionsMany processes and strategies can influence the implementation and sustainability of BPGs at BPSOs. We have developed indicators that can help BPSOs promote evidence-informed practice implementation of BPGs.

Dataset Information

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

Publications

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

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