1 GenQA, John Radcliffe Hospital, Oxford, UK; Katrina.Rack@ouh.nhs.uk; Ros.Hastings@ouh.nhs.uk;
2 Department of Genetics University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; email@example.com;
3 MLL-Munich Leukemia Laboratory, Munich, Germany; firstname.lastname@example.org;
4 Department of Clinical Genetics, Erasmus MC, University medical center Rotterdam, Rotterdam, The Netherlands; email@example.com;
5 Laboratori de Citogenètica Molecular, Servei de Patologia, Grup de Recerca,Translacional en Neoplàsies Hematològiques, Cancer Research Program,Hospital del Mar, Barcelona, Spain; BEspinet@parcdesalutmar.cat;
6 Viapath Genetics laboratory, Guys Hospital, London, UK; Nicola.Foot@viapath.co.uk;
7 Department of Cytogenetics, City Hospital Campus, Nottingham, UK; Katherine.Martin@nuh.nhs.uk;
8 Haematological Malignancy Diagnostic Service, St James’s University Hospital, Leeds, UK; firstname.lastname@example.org;
9 Laboratoire d’oncogénomique, Service d’hématologie Centre Hospitalier Universitaire, Vaudois, Switzerland; Jacqueline.Schoumans@chuv.ch;
10 Haematological Malignancy Diagnostic Service, St James’s University Hospital, Leeds, UK; email@example.com;
11 Laboratorio di Citogenetica e Genetica Molecolare - Laboratorio Analisi, Humanitas Research Hospital, Rozzano, Milan, Italy; firstname.lastname@example.org;
12 Center of Oncocytogenetics, Institute of Clinical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University,Prague, Czech Republic; email@example.com;
13 Laboratoire d’Hématologie, IUCT-O, Toulouse, France; firstname.lastname@example.org.
Specific recommendations for reporting the results of diagnostic genetic testing have previously been published1. However the focus has been on germline testing and although many of the reporting requirements are the same, the considerations for the interpretation of acquired abnormalities are different. General guidance on report format and content is also provided in the recommendations for cytogenomic testing in haematological neoplasms2. Review of cytogenomic test reports of laboratories participating in external proficiency testing schemes has highlighted a large variation in the content and detail of the interpretation of the results. This document aims to provide supplementary specific guidance for the format and information to be included in the result interpretation. The interpretation should provide clear concise information and long reports should be avoided as this detracts from the clarity of the results. Genetic testing can be undertaken for diagnostic, prognostic and predictive reasons or at follow up for disease monitoring and this should be addressed in the report.
Relationship of any abnormalities found to the referral reason
The report should include a description of the abnormality identified and the results should be interpreted with respect to the referral reason, or any subsequent information received regarding the patient (e.g. information subsequently communicated by referring clinician). For haematological samples the final diagnosis may or may not be known at time of sample collection and consequently the referral reason can be a confirmed diagnosis, a presumptive diagnosis, a differential diagnosis or a description of clinical symptoms or findings.
Reporting normal results
The probability of detecting an abnormality depends on the pathology and methodology used. Laboratories should ensure that the most appropriate testing strategy is undertaken. Interpretation of normal test results needs careful consideration.
Reporting complex results
Reporting complex test results can be challenging and it is important that the information provided is succinct and clear to the reader of the report.
Prognostic and predictive information
It is good practice to include prognostic and predictive information in the report. However, it is recognised that local policy and national recommendations need be taken into account when deciding whether to include this information in the report. For example, inclusion of this information may not be required when it will be summarised in an integrated multidisciplinary report or inclusion may be unhelpful in cases where the report is given directly to the patient. In the latter case, information regarding prognosis should be reported with caution as there are always exceptions on a patient level: e.g. cases with CLL and TP53 aberrations that do perform well, etc. Similarly, inclusion of predictive response to therapy in the report can be unhelpful as choice of adequate therapeutic option by the clinician needs to take into account the patients co-morbidities and other clinical issues. Where laboratory policy is not to include this information in the report the laboratory may choose to make this information, and any new predicitive data, available to the clinician outside the report (telephone, extra fact sheet, link to laboratory website, separate appendix).
Where prognostic information is included or has been specifically requested a prognostic statement must be provided.
Where additional testing, not already undertaken, is required to clarify the significance of the results this should be stated on the report.
Follow up testing
The interpretation of follow up testing must relate the current results to the previous test results and the previous test reference number and sample date should be provided in the report.
Technical reports and provisional reports for discussion at multi discipline meetings
In some circumstances a provisional or abbreviated report is issued prior to discussion at a multi-disciplinary team meeting (MDT) or before the results of other ongoing testing are available. If a purely technical report is issued it should be made clear that the interpretation of the results will be incorporated into a final integrated report.
|Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)|
|Claustres M, Kožich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Rave nswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ, Barton DE; European Society of Human Genetics|
|Eur J Hum Genet 2014 Feb;22(2):160-70|
|European Recommendations and Quality Assurance for Cytogenomic Analysis of Haematological neoplasms.|
|Rack K, et al|
|Written||2019-05||Katrina Rack, Eva van den Berg, Claudia Haferlach, Berna Beverloo, Blanca Espinet, Nicola Foot, Kate Martin, Sheila O'Connor, Jacqueline Schoumans, Polly Talley, Sabine Stioui, Zuzana Zemanova, Isabelle Luquet, Ros Hastings|
|John Radcliffe Hospital, Oxford, UK (KR, RH), Department of Genetics University Medical Center Groningen, University of Groningen, Groningen, The Netherlands(EvdB); MLL-Munich Leukemia Laboratory, Munich, Germany (CH); Department of Clinical Genetics, Erasmus MC, University medical center Rotterdam, Rotterdam, The Netherlands (BB); Laboratori de Citogenètica Molecular, Servei de Patologia, Grup de Recerca,Translacional en Neoplàsies Hematològiques, Cancer Research Program,Hospital del Mar, Barcelona, Spain (BE); Viapath Genetics laboratory, Guys Hospital, London, UK (NF); Department of Cytogenetics, City Hospital Campus, Nottingham, UK (KM); Haematological Malignancy Diagnostic Service, St James's University Hospital, Leeds, UK (SOC); Laboratoire d'oncogénomique, Service d'hématologie Centre Hospitalier Universitaire, Vaudois, Switzerland (JS); Haematological Malignancy Diagnostic Service, St James's University Hospital, Leeds, UK (PT); Laboratorio di Citogenetica e Genetica Molecolare - Laboratorio Analisi, Humanitas Research Hospital, Rozzano, Milan, Italy (SS); Center of Oncocytogenetics, Institute of Clinical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University,Prague, Czech Republic (ZZ); Laboratoire d'Hématologie, IUCT-O, Toulouse, France (IL). Corresponding author: Katrina Rack|
|This paper should be referenced as such :|
|Rack K, van den Berg E, Haferlach C, Beverloo B, Espinet B, Foot N, Martin K, O'Connor S, Schoumans J, Talley P, Stioui S, Zemanova Z, Luquet I, Hastings R|
|Atlas Genet Cytogenet Oncol Haematol. in press|
|On line version : http://AtlasGeneticsOncology.org/Deep/GuidanceReportInterpretationCytogenomicID20150.htm|
|© Atlas of Genetics and Cytogenetics in Oncology and Haematology||indexed on : Wed Jun 12 11:29:51 CEST 2019|
For comments and suggestions or contributions, please contact us