Genetic testing services in Europe: Quality assurance and policy issues

2001 ◽  
Vol 8 (2) ◽  
Author(s):  
Jean-Jacques Cassiman ◽  
Alastair Kent ◽  
Glenn Miller ◽  
Peter Miny ◽  
Erik Tambuyzer
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Science Fiction ◽  
Genetic Counselling ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Diagnostic Testing ◽  
Dna Profile ◽  
Patient Groups

The popular press is painting a picture of a future in which everyone has a detailed DNA profile of themselves drawn up. Such a vision of the future, however, is more science fiction than science practice. Predictive tests for complex diseases and cancer, eg colon cancer and breast cancer, are increasingly being used, and the related, and important, genetic counselling may become complex and comprehensive. Quality assurance in genetic testing for both cytogenetics and molecular genetic testing in Europe is also described. The quality of genetic testing in Europe could be substantially improved, and before a genetic test is accepted as a routine diagnostic or prognostic procedure it should have proven clinical utility. Pharmacogenetic testing looks at the efficacy of medicines and their side effects on patients and patient groups, and is increasingly being used to develop better targeted medicines. Genetic testing services and genetic counselling are structured in different ways in Europe, and organisation and reimbursement differ among European countries. Quality and non-directive genetic counselling must be made an integral part of quality genetic testing services, and be sufficiently reimbursed. European networking and identification of reference centres for quality-based diagnostic testing of genetic diseases should be encouraged. Reimbursement within Europe for sample forwarding should be adapted to allow samples to be tested in countries other than the country of origin of the patient.

scholarly journals Molecular Genetics and Fetal Brain

2008 ◽  
Vol 2 (3) ◽  
pp. 87-99
Author(s):  
Ana Stavljenic-Rukavina
Keyword(s):  
Genetic Testing ◽  
Clinical Medicine ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Fetal Brain ◽  
Clinical Findings ◽  
Ultrasound Assessment ◽  
Molecular Aspects ◽  
Genetically Determined ◽  
Risk Determinants

Abstract Molecular aspects of genetic diseases that affect the nervous system are in the focus of scientific interest investigators from many fields of medicine and the knowledge of genetic abnormalities as well as phenotypic heterogeneity is rapidly expanding. This review is aimed to provide clinician's practical insight into molecular aspects of certain brain abnormalities and disorders based on prenatal ultrasound assessment and clinical findings. Additionally some risk determinants are included in order to elucidate its contribution to molecular mechanism underlying the disease development. Making a specific diagnosis of a genetically determined neurological disorder or defects requires access to a laboratory that can assist in arranging for appropriate testing to be carried out. Therefore this review contains technological aspects of molecular genetic testing, international guidelines and policies related to genetic testing and recommendation for application in clinical medicine.

Stand der Implementierung der OECD-Leitlinien für Qualitätssicherung im molekulargenetischen Labor im deutschsprachigen Raum/The status of implementation of the OECD guidelines for quality assurance in molecular genetic testing in the German speaking area

2013 ◽  
Vol 37 (2) ◽  
Author(s):  
Silvia Lechner ◽  
Magdalena Hagleitner ◽  
Bettina Staudinger
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Molecular Genetics ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
The Status ◽  
German Speaking

ZusammenfassungDie Frage nach der in der Literatur geforderten Qualitätsarbeit in molekulargenetischen Laboratorien ist Gegenstand dieser Arbeit. Untersucht werden Art und Umfang des praktischen Qualitätsmanagements.Auf Basis der OECD-Guidelines for Quality Assurance in Molecular Genetic Testing 2007 wurde ein Fragebogen mit 40 Fragen entwickelt. Daten von 144 molekulargenetischen Labors (MGTL) wurden durch eine postalische Fragebogenerhebung im September 2009 gesammelt und mit SPSS 15.0 und EXCEL ausgewertet.Die 144 möglichen, kontaktierten MGTL im deutschsprachigen Raum setzten sich zusammen aus 122 MGTL in Deutschland, 13 MGTL in Österreich und 9 MGTL in der Schweiz. Es nahmen 48 an der Fragebogenerhebung teil (Rücklaufquote von 33,3%), wovon 9 MGTL aufgrund von Umstrukturierungen im Labor den Fragebogen nicht ausfüllten. Alle gehören dem Berufsverband Deutscher Humangenetiker (BVDH) an (n=144, insgesamt Rücklaufquote 33,3%). Die 39 Studienteilnehmer erklärten, dass sie Tests für 4–400 verschiedene Krankheiten anbieten. 64,1% der Befragten gaben an, dass sie bereits über ein Qualitätsmanagementsystem verfügen und 35,9% der Teilnehmer waren in der Planungsphase eines Qualitätsmanagementsystems. 82,21% gaben an, dass sie in „The European Molecular Genetics Quality Network“ (EMQN) teilnehmen.Die Studie hat gezeigt, dass vielfältige Ansätze der Qualitätsarbeit existieren. Es herrscht eine Konzentration auf die Ergebnisqualität vor, die Integration der OECD-Guidelines kann weitgehend nachgewiesen werden. Die rasche Entwicklung von Untersuchungsmethoden stellt für die praktische Qualitätsarbeit eine gegenwärtige und zukünftige Herausforderung dar.

scholarly journals Thirteen Years of an International External Quality Assessment Scheme for Genotyping: Results and Recommendations

2016 ◽  
Vol 62 (8) ◽  
pp. 1084-1095 ◽  
Author(s):  
Verena Haselmann ◽  
Wolf J Geilenkeuser ◽  
Simona Helfert ◽  
Romy Eichner ◽  
Svetlana Hetjens ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Quality Assessment ◽  
Error Rate ◽  
External Quality Assessment ◽  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
External Quality ◽  
Sequence Variations ◽  
Therapeutic Decisions

Abstract BACKGROUND Suboptimal laboratory procedures resulting in genotyping errors, misdiagnosis, or incorrect reporting bear greatly on a patient's health management, therapeutic decisions made on their behalf, and ultimate outcome. Participation in external quality assessment (EQA) is a key element of quality assurance in molecular genetic diagnostics. Therefore, the Reference Institute for Bioanalytics has tried for 13 years to improve the quality of genetic testing by offering an EQA for different clinically relevant sequence variations. METHODS Within each of the biannual EQA schemes offered, up to 18 samples of lyophilized human genomic DNA were provided for up to 50 different molecular genetic tests. Laboratories were asked to use their routine procedures for genotyping. At least 2 expert peer assessors reviewed the final returns. Data from 2002 to 2014 were evaluated. RESULTS In total, 82 462 reported results from 812 characterized samples were evaluated. Globally, the number of participants increased each year along with the number of sequence variations offered. The error rate decreased significantly over the years with an overall error rate of 1.44%. Additionally, a decreased error rate for samples repeated over time was noted. Interestingly, the error rate showed a high difference depending on the locus analyzed and the method used. CONCLUSIONS Based on the evaluation of this long-term EQA scheme, various recommendations can be given to improve the quality of molecular genetic testing, such as the use of 2 different methods for genotyping. Furthermore, some methods are inappropriate for analysis of certain sequence variations.

scholarly journals Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype

2021 ◽  
Vol 9 ◽  
Author(s):  
Xu Zhang ◽  
Li Liu ◽  
Yang Liu ◽  
Xin Pan
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Uniparental Disomy ◽  
Snp Analysis ◽  
Chromosome 16 ◽  
Pathogenic Variants ◽  
First Case ◽  
Whole Exome

Uniparental disomy (UPD) is a specific type of chromosomal variant that has been detected in both prenatal diagnosis and neonates with advances in molecular genetic testing technologies [mainly chromosome microarray analysis (CMA) technologies containing single-nucleotide polymorphism (SNP) probes]. In this case, we performed non-invasive prenatal genetic testing (NIPT) to screen fetuses for aneuploidy and detected the presence of aneuploidy chimerism and UPD by CMA, including SNP analysis and whole-exome sequencing, to detect pathogenic variants within the genome. The NIPT results suggested an increased number of fetal chromosome 16, and the CMA results indicated that it was the first case of holistic paternal UPD16 with isodisomy combined with heterodisomy, although no abnormal phenotype was seen in the newborn at postnatal follow-up. The homozygous region of the isodimer combined with the heterodimer is smaller than that of the complete isodimer, and it is less prone to recessive genetic diseases. A retrospective analysis of this case of paternally derived UPD16 was used to explore the uniparental diploid origin of chromosome 16 and to provide some reference for genetic counseling and prenatal diagnosis.

The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia

2006 ◽  
Vol 96 (11) ◽  
pp. 597-601 ◽  
Author(s):  
Anne Goodeve ◽  
Marian Hill ◽  
Ian Jennings ◽  
Steve Kitchen ◽  
Isobel Walker ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Quality Assessment ◽  
Cell Line ◽  
External Quality Assessment ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
External Quality ◽  
External Quality Assessment Scheme ◽  
The Uk

SummaryMolecular genetic analysis of families with haemophilia and other inherited bleeding disorders is nowa common laboratory investigation. In contrast to phenotypic testing in which strict quality control is adhered to, in haemophilia molecular genetic testing there has been a lack of any external quality assurance schemes. In 1998 the UK National External Quality Assessment Scheme (UK NEQAS) established a pilot quality assurance scheme for molecular genetic testing in haemophilia. Results from three initial surveys highlighted problems with the quality of samples when used to screen for the intron 22 inversion within the F8 gene. The scheme was re-launched in 2003, and since that time there have been five exercises involving whole blood or immortalised cell line DNA. The results together with an overall summary of the exercise are subsequently returned to participants. Exercises to date have focused exclusively on haemophilia A and QA, material has included screening for the intron 1 and intron 22 inversions as well as sequence analysis. A paper exercise circulated in 2003 highlighted problems with the format of reports and, following feedback to participants, onlya single error has been made in the subsequent four exercises. Participating laboratories now receive QA material every six months. Immortalised cell line material was introduced in 2005 and was shown to perform well. This will allow expansion of the scheme and a reduction in the dependence on blood donation.

scholarly journals Quality assurance practices in Europe: a survey of molecular genetic testing laboratories

2012 ◽  
Vol 20 (11) ◽  
pp. 1118-1126 ◽  
Author(s):  
Sarah Berwouts ◽  
Katrina Fanning ◽  
Michael A Morris ◽  
David E Barton ◽  
Elisabeth Dequeker
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Testing Laboratories
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