U.K. NEQAS for
Molecular Genetics of Heritable Bleeding Disorders The Annual Report for this programme can be downloaded here INTRODUCTION By providing external quality assessment for the analytical process of molecular genetics investigations for heritable bleeding disorders, as a part of overall quality assurance within the laboratory, the programme aims to promote high standards of performance and practice, achieved with the UK NEQAS primary aim of education, by provision of independent, objective and impartial information. (There is a separate programme for Thrombophilia Genetics) WHO CAN TAKE PART? The programme is open to all potential participants, whether government supported, private or commercial concerns, both within and outside of the UK. We are run on a not for profit basis, under the auspices of the UK National External Quality Assessment Service, and professional bodies The participant registered should be the centre responsible for performing the tests. Data from participants will be treated with strict confidentiality. HOW DOES IT WORK? Participating centres will be sent two surveys per year, each survey comprising material for investigation together with clinical details. These samples may be for investigation of the F8, F9 or VWF gene. Samples are obtained from donors who have previously been screened for hepatitis B surface antigen (HBsAg), and for antibodies to human immunodeficiency virus types 1 and 2 (anti-HIV-1+2). On occasion samples may only be available from individuals who have screened positive for antibodies to hepatitis C virus. In such cases participants will be forewarned and allowed to request that this material is not sent to their laboratory. For each survey participants are requested to provide a detailed report complying with the Clinical and Molecular Genetics Society. Participants are also encouraged to use the nomenclature recommended by the Human Genome Variation Society. A closing date for return of results will be given, normally six weeks after the date of survey distribution. Individual reports based on the analysis of returned results will be sent to participants as soon as possible after the survey closing date. PERFORMANCE ANALYSIS Reports are anonymised and then scored by the Advisory Group (see below) using three categories; clerical, genotyping and interpretation. Laboratories that participate in the scheme but fail to return a report within the designated time frame are deemed to have failed that particular exercise.
In line with Clinical Molecular Genetics Society (CMGS) policy each report is scored on the basis of:
i. Clerical Accuracy ii. The results of genotyping iii. Interpretation of the genetic results in the context of the clinical history, relevant factor assays and in particular whether it answers the clinical question that was posed. Failure in any one category confers an overall fail for the exercise. The results of genetic studies are often dealt with by individuals who are not experts in the field of molecular haemostasis and therefore it is important that the report should be clear and ‘stand alone.’ Each laboratory receives a report with their individual scores and in addition a copy of comments that were highlighted during that particular exercise. Cases are chosen to reflect the variety of referrals that a genetics laboratory is likely to see and the questions posed to them. |
