European Journal of Human Genetics (2014) 22, 160–170& 2014 Macmillan Publishers Limited All rights reserved 1018-4813/14
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POLICY

Recommendations for reporting results of diagnostic
genetic testing (biochemical, cytogenetic andmolecular genetic)
Mireille Claustres1, Viktor Kožich2, Els Dequeker3, Brain Fowler4, Jayne Y Hehir-Kwa5, Konstantin Miller6,
Cor Oosterwijk7, Borut Peterlin8, Conny van Ravenswaaij-Arts9, Uwe Zimmermann10, Orsetta Zuffardi11,
Ros J Hastings*,12 and David E Barton13, on behalf of the ESHG Quality committee
Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinicaltherapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, arebased on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative andauthoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognisedby the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has
produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines
give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three
disciplines are provided in an annexe.
European Journal of Human Genetics (2014) 22, 160–170; doi:10.1038/ejhg.2013.125; published online 14 August 2013

Diagnostic genetic testing is an extremely rapidly expanding area
encompassing a broad range of laboratory investigations to analyse
chromosomes (from classical karyotype to molecular cytogenetics),
nucleic acids (DNA, RNA), proteins and metabolites used to detect
heritable or somatic mutations, genotypes or phenotypes related todisease and health. Genetic testing requires particular consideration inthat it is usually performed only once in a patient’s lifetime, and theresults may have considerable importance for lifetime decisions not
only for the individuals being tested but also for children and family.
Interpreting and reporting variation in germline chromosomes, DNA
sequences or their products is a heavy clinical responsibility forprediction of susceptibility to disease, patient diagnosis, prognosis,
counselling, treatment or family planning. Providing a set ofreporting frameworks that can be customised for different testing
contexts but share some common principles could be beneficial to thepractice of a number of laboratories, including non-OECD members
and/or laboratories that do not participate in External Quality
Assessments (EQA), and to laboratories with blurred boundaries
between research and genetic testing services.
Although several guidelines already exist for reporting the results ofgenetic testing,1,2,3 these focus on molecular genetic testing and do
not cover the other two branches of laboratory genetics, namely
biochemical genetics and cytogenetics. Based on recent surveys of
EQA results presented by some European EQA providers and therequest from genetic laboratories for comprehensive reporting
guidelines, it was considered that a unifying attempt to harmonise
the reporting practice of genetic tests in Europe and neighbouring
countries would be welcome.
MATERIALS AND METHODSOn behalf of the Genetic Services Quality Committee of the European
Society of Human Genetics (ESHG, https://www.eshg.org/), a workgroupcomposed of experts with long-term knowledge and experience in genetic
testing was invited to several meetings, with the objective to answer the
key question: is it feasible to clarify a minimum set of issues andframeworks in reporting that would fit different testing scenarios encountered in cytogenetic, molecular and biochemical genetic laboratories?
This workgroup included academic experts in clinical cytogenetics,
molecular genetics, biochemical genetics, clinical genetics, bioinformatics, patient groups, accreditation bodies and EU organisations of
EQA (proficiency testing) for genetic diagnostic laboratories. A preliminary draft including major key issues in reporting was discussed
through meetings, then reviewed and updated by each of the participants,
until reaching a consensus on shape and contents of these guidelines andrecommendations.
Although these guidelines do not specifically address the reporting of results
generated by massively parallel DNA sequencing, the reporting of thepathogenic variants identified by this method (or their absence) does notdiffer from reporting such variants found by conventional DNA sequencing.

1Molecular Genetics of Rare Disorders, University Hospital of Montpellier and INSERM U827, IURC (Institut Universitaire de Recherche Clinique), Montpellier, France; 2First
Faculty of Medicine, Charles University in Prague, Institute of Inherited Metabolic Disorders, Prague, Czech Republic; 3Biomedical Quality Assurance Research Unit, Departmentof Human Genetics, University of Leuven, Leuven, Belgium; 4Department of Paediatrics, Universitäts-Kinderspital beider Basel (UKBB), Basel, Switzerland; 5Department of
Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; 6Hannover Medical School, Institute of Human Genetics, Hannover, Germany; 7VSOP—
National Patient Alliance for Rare and Genetic Disorders, Soest, The Netherlands; 8Division of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University
Medical Center, Ljubljana, Slovenia; 9Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands; 10Division 3 Health/
Forensics, Deutsche Akkreditierungsstelle GmbH (DAkkS), Office Frankfurt am Main, Germany; 11Department of Medical Genetics, University of Pavia, Pavia, Italy; 12CEQA/UK
NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK; 13National Centre for Medical Genetics, School of Medicine &Medical Sciences, University College Dublin, Our Lady’s Children’s Hospital, Dublin, Ireland*Correspondence: Dr RJ Hastings, CEQA/UK NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 9DU, UK.
E-mail: ros.hastings@ouh.nhs.uk

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GENERAL COMMENTS
Scope of the document
These recommendations aim to provide guidance for reporting resultsof genetic testing by biochemical genetic, cytogenetic and molecular
genetic techniques. They are distinct from (and bring additional
information on reporting to) recently published documents such as
good laboratory practices regulations,4–10 quality assurance
frameworks delivered by EuroGentest (www.eurogentest.org),
evaluation frameworks and assessment of analytic validity developedby the Agency for Healthcare Research and Quality (AHRQ11), CLIA
(Clinical Laboratory Improvement Amendments) recommendations
for good laboratory practices in molecular genetic testing12 or
guidelines for licensing, certification or accreditation processes andgeneral guidelines for quality assurance in molecular genetic testing
provided by the Organisation for Economic Cooperation andDevelopment (OECD).1 Reporting targeted genetic testing formonogenic disorders and for susceptibility traits with provenclinical utility, regardless of the extent of testing (that is, single geneor multiple genes) is within the scope of these recommendations.
Definition
Reports are specific formal medical documents from the laboratory to
the referring physician and/or other health-care professionals regarding the results and interpretation of genetic testing in a patient and/or
members of a family. The main goal of reports is to provide a clear,concise, accurate, fully interpretative and authoritative answer to aclinical question.
Minimal set of clinical information accompanying the samples
For the correct interpretation of genetic tests, a minimal set of clinicalinformation from the referring physician or genetic counsellor must
accompany the sample. The purpose of testing must be clearly
identified (for example, confirmation of diagnosis that was establishedby other means, differential diagnosis of several disorders, carrier testing,presymptomatic testing and prenatal testing). The ethnicity of theindividual tested should be included if relevant for the purpose of
testing; this information may be useful to select the most appropriate
test methods and to calculate residual risks. The referring physician
should provide all clinical, laboratory, imaging, genealogic, genetic orother data that are relevant to the purpose of testing, and that may
guide the laboratory in selecting the optimal laboratory procedures.
For biochemical genetic testing, the referral should also include
information on the conditions under which the samples werecollected, on fed/fasting status and on the use of medications. For
some clinical situations, it is essential to provide the laboratory with afamily tree constructed by a genetic professional. For index cases,
laboratories are strongly encouraged to request a more detailed
disease-specific clinical form completed by the referring physician
or genetic counsellor. Owing to potential deleterious consequences ofshortcomings in the communication of critical information pertinent
for the interpretation of results and clinical decision-making, somelaboratories provide the ordering clinician with a clinical requisition
form specific for the disease, which must be filled, signed and joined
to the sample. Another benefit is to avoid non-medical office staff
ordering genetic tests.13 If the purpose of testing or relevant clinicalinformation is not provided, laboratories should request the missing
clinical information required to perform the agreed testing.
Results of how many individuals in one report?
It is recommended that each unrelated patient should be reported in a
separate and unique document, as many reports may ultimately be

filed in individual patient or family files (for reasons of confidentiality). However, in recessive disorders it is appropriate (where legallypermitted) to report the couple’s risk of having affected children
together, which requires that both individuals are clearly identified.
When several family members are analysed simultaneously, policies
vary as to whether they should be reported on the same or on
different reports. This will depend on the disorder and the nature of
the referral reason, as well as on the legislation on genetic testing in
the respective country.
Guidelines for reporting
General guidelines and examples of reports are available in the Annex
to these guidelines and on the ESHG, EuroGentest, CEQA (Cytogenetic European Quality Assessment), CF Network and ERNDIM(European Research Network for evaluation and improvement ofscreening, Diagnosis and treatment of Inherited disorders of Metabolism) websites for consultation.
CONTENTS OF THE REPORTThe following elements should be present in every report:
Administrative
Title (for example, ‘Result of molecular genetic analysis of the XX
gene’ or ‘Results of enzyme assay for XX disease(s)’ or ’Results ofconstitutional microarray analysis’).
The identity of the laboratory performing the analysis and issuing
the report, with full contact details. If parts of analyses have been
carried out in other laboratories, this fact must be clearly andunequivocally stated.
Full date of the report.
Page numbers indicating the total number of pages, essential when
multiple pages are used. (for example, 1/1 or page 1 of 2).
Name and full address of the physician referring the patient.
Signature. The report must be electronically or manually signed by
the authorised laboratory specialist who validated the analysis andinterpreted the result; co-validation and co-signature by a secondcompetent person is recommended (and mandatory in some countries). The name and function of signatories must be given.
Patient and sample identification
Patient identification:
 Full given name(s) and the surname (must be separate to avoid

uncertainties, especially in sending samples to other countries).
 Unequivocal date of birth.
 Gender.

Fetal samples (CVS, amniocytes and so on) must be clearly
distinguished from those of their mothers.
Note: Where legislation (for example, data protection legislation)prohibits the transmission of identifiable personal information, a code
may be used instead of the patient’s name.
Ethnic/geographic origin, if relevant.
Date (and time of sample collection, if available; this information is
crucial for biochemical genetic testing).
Date (and time) of sample arrival to the laboratory.
Information on the status of the sample if relevant (for example,
frozen, decomposed, haemolyzed).
Material that has been tested (for example, ‘EDTA blood’, ‘cultured
amniocytes’, ‘DNA extracted fromy’, ‘heparin plasma’, ‘urine’ andso on). When the sample has been processed in another laboratory
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what was done with the samples and by whom (for example, sample:‘DNA, extracted by XXXX, from blood’).
Unique sample ID number for each sample tested.
Patient identifiers should be included on each page of a multipage
report.
Restatement of the clinical question
The interpretation of genetic test results depends usually on theclinical context. Therefore, in the section GENERAL COMMENTS
above, a minimal set of clinical and laboratory data requested fromthe referring physician or genetic counsellor has been defined. Basedon this information provided by the attending physician or genetic
counsellor, the reports of genetic testing should explicitly restate theclinical question being asked. This usually comprises at least thefollowing three elements:
The disease(s) or marker(s) being requested for analysis (forexample, cystic fibrosis, lysosomal storage disorders, inborn errors of
metabolism, chromosomal abnormalities);
The type of required testing (for example, diagnostic confirmation,
carrier status, prenatal diagnosis);
The referral reason—why the request is being made (for example,
positive family history, multiple congenital abnormalities, fasting
hypoglycaemia and so on).
When the referral is due to abnormal results of previous genetic
testing in either the same laboratory or a different laboratory, this factmust be clearly indicated in the report, with a reference to the relevant
previous report.
Specification of genetic tests used
Gives useful, brief information on the methods used in the analysis.
Additional information may be in footnotes.
Gives full details of the extent of the tests (for example, whichexons screened for deletions in DMD, which FISH probes used, which
mutations looked for in CF, resolution of cytogenetic analyses and soon). This information is particularly important when reporting
normal/no abnormality detected results.
Where a commercially available kit is used, this should be clearly
identified in the report, including the reference and version of the kit(and, where applicable, the list of mutations included in the versionused).
For molecular genetic testing, gives the gene reference sequence thathas been used to identify and describe the variants.
Where appropriate, gives the detection rate (sensitivity) in the
population of origin of the individual tested.
Results
Present the results in a brief and unambiguous form. If several
different tests have been performed, the results should be shown
separately for each of the tests. The terms ‘positive’ and ‘negative’ canbe ambiguous and should not be used.
For molecular genetic testing, reference sequence (including Build
No.) and nomenclature of detected genetic variants should bemeaningful, unambiguous and consistent using the recommended
HGVS nomenclature valid at the time of reporting. As both HGVS
nomenclature and the reference sequences change in time, otherdescriptions of the variant that have been widely used in the past may
be given in parentheses, if appropriate.
European Journal of Human Genetics

If more than one possibly pathogenic variant has been detected, acomment on the phase of variants (which may be unknown) should
be added, taking into account the expected mode of inheritance of thedisorder.
For cytogenetic and microarray testing, the most recent International System for Human Cytogenetic Nomenclature (ISCN)
nomenclature should be used.
It may be useful to give a list of genes involved (by HGNC symbol
and/or OMIM number) for abnormal microarray results and forother tests involving multiple genes.
For biochemical genetic testing using qualitative tests, the report
should clearly distinguish normal results from nonspecific findings
and from clearly abnormal results (including an indication of which
diseases are most likely). For quantitative analyses of single analytes,
both the value and the reference range should be given. For enzyme
assays it is usual to show, in addition, the activities of controls run inparallel with the patient sample; reports on enzyme activity should
contain the E.C. number of the enzyme. For quantitative profile
analyses, the report should only summarise the major findings
distinguishing normal, nonspecific and disease-specific profiles;
numeric values of the profile analyses should be sent as attachments.
Interpretation of results
General recommendations for the interpretation of genetic laboratory
results are given in this section. The Quality Committee realises thatdifferences between countries may exist, as to where the boundary of
the responsibilities of laboratory specialist versus the clinician lies. For
example, the use of prediction programs to predict the effect of anovel missense variant or a variant that may affect splicing is evidently
the expertise and responsibility of the laboratory specialist. The same
holds true for the interpretation of intermediate biochemical results,
although the clinical phenotype may sometimes be decisive for theinterpretation. On the other hand, relating the phenotype to what is
known in literature on the effect of a rare copy number variant will
highly depend on the background of the laboratory specialist(in some countries, cytogeneticists are clinical geneticists) andthe referring clinician. With the use of new high-resolutionand high-throughput sequencing techniques, the number of (copynumber) variants of unknown clinical significance will increase, andthe prediction programs and the databases with normal variants havetheir limitations. Thus, laboratory and clinical specialists should
discuss and document what the minimal interpretation in thelaboratory report should be. In the opinion of the Quality Committee, the report should at least contain all relevant information thatenables the clinician to perform the clinical interpretation using
literature resources (for example, which RefSeq genes are located in acopy number loss, or what the results are of prediction programs on amissense variant and whether or not it has been reported in databases
like dbSNP). It may be worthwhile to inform the clinician thatgenealogical/family studies may be helpful in the interpretation, andthat the interpretation is based on current knowledge and thus maychange in the future due to additional evidence.
Although this is beyond the scope of these recommendations forreporting results of diagnostic testing, the committee acknowledges
the need for curated locus/disease-specific databases and databases of
copy number variants. Such databases should be supported by an(international) expert committee (as proposed by Tavtigian et al.14).
The report must provide a full and clear interpretation of results,
depending both on the clinical context and the reason for referral (forexample, diagnostic test, carrier test, prenatal test). Reports on patients
may be read by a variety of professionals involved in their care, many

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of whom will be unable to interpret fully the results of genetic testing.
In order to provide a full interpretation, the results must be viewed in
the context of the relevant clinical and family information available(for example, relationship between the patient and the index case where
relevant, family pedigree, ethnic background, clinical and laboratory
data provided by the referring physician and others).
If more tests have been carried out using the same sample(s), theinterpretation part of the report should integrate the individual
results and should answer the clinical question in a clear and concise
way. This integration of findings with relevance to the tested
individual is especially important when multiple susceptibility genetic
variants have been analysed.
Answer the question in a concise and clear way, after taking into
account any appropriate additional information supplied. It is
recommended that laboratories highlight this conclusion (bold,
underline, large font, text in a box and so on). In particular,
remember that negative results (‘no mutation detected’) can easily
be misinterpreted by non-specialists as ‘exclusions’. Significance of
results in respect to the referral reason (clinical question) should beclearly stated and should belong to one the following five categories.
In some cases there may be more than one conclusion: Normal finding(s) (physiological finding, normal variation): findings

within the range of physiological variation for the given individual
considering ethnicity, age, sex, maturity and other relevant factors;
for example, nucleic acid sequence corresponding to the reference
sequence or containing genetic variants considered usual variations
at the time of reporting, chromosomal heteromorphisms as definedin the ISCN, frequently occurring CNVs reported in the database forgenomic variants (DGV), concentrations of analytes in quantitative
biochemical genetic tests within reference ranges, results of qualitative biochemical genetic tests showing a usual result/profile.
If relevant, it may be important to provide an estimate of thediagnostic sensitivity (that is, the proportion of affected individuals likely
to be detected; or one minus the false-negative rate). It can be useful toprovide a key reference to support sensitivity estimates, whenappropriate, but the report should not become a scientific discussion.
 Non-specific finding(s) without clinical relevance: findings outsideof the physiological variation but not associated with a known
disease; (for example, elevation of multiple serum amino acids in apatient receiving parenteral nutrition, presence of drugs and their
metabolites in biochemical tests, signs of sample decomposition). Suchfindings should only be reported if they may be relevant to theresult (for example, issues of sample quality).
 Incidental finding(s) with possible clinical relevance: findings indicating a clinically relevant issue, but unrelated to the clinical questionthat was asked (for example, signs of sex chromosome abnormality
when analysing an X-linked disorder, evidence of predisposition to an
unrelated condition). The decision on whether to report such findings
will depend on local policy and on how the patient has beencounselled about this possibility. A clear policy on reporting incidental
findings should be in place in all institutions offering genetic testing.
 Finding(s) of uncertain significance: findings outside of the physiological variation but with possible or putative relevance to theclinical question asked; for example, novel missense variants, novel
putative splicing variants with unproven effect at RNA level,mosaicism or novel rearrangements in cytogenetic analyses, copy
number variations and intermediate analyte concentration/enzyme
activity, suggesting either heterozygosity or a mild phenotype. It is
important that findings of uncertain significance are included inreports, as their significance may become clear at a later date.

Attempts should be made to explain significance of the finding using
literature, additional databases, prediction programs and othermeans, and to report the likelihood of the finding in respect tothe clinical question asked. In some cases, it may be important toprovide an estimate of diagnostic specificity, which indicates the riskof a false-positive result (for example, in late-onset diseases or in casesof reduced penetrance). When practical and appropriate, the advice ofa Clinical Geneticist should be sought.
 Pathognomonic (disease-specific, pathological) finding(s): findingsthat are outside of the physiological variation and that are, at thepresent state of knowledge, unequivocally associated with aclinically relevant disease or group of diseases. Pathogenicity offindings should be clearly supported from data in literature/
databases, segregation analysis, functional tests of genetic variants
and other relevant means.
Description of genotype can include the correct assignment ofphase, which may require the study of familial segregation of alleles.
When appropriate, reports must explicitly mention that ‘both parents
should be tested to confirm their carrier status and to provide formal
confirmation of the diagnosis of their child.’
When appropriate or required by the requesting physician, genetic
carrier risks should be stated. Risk estimates may require theapplication of Bayesian calculations.
It should be indicated if further tests could be undertaken to
improve the accuracy or scope of the interpretation. This may include
tests for additional disorders or additional tests to more fully
investigate the disease in question. If the additional tests suggested
are not performed ‘in-house’, alternative specialist laboratories where
the sample may be sent may be proposed.
If any other information could be supplied or obtained by
the referring clinician that might improve the accuracy of yourinterpretation, it should be stated in the report (for example,
arranging testing of the index case in a family to confirm a diagnosis
or to determine which mutations are present).
References: It may be useful to quote appropriate references for theinterpretation of results, particularly of rare pathogenic and unclassified variants, as well as for certain risk calculations.
Requirement for genetic counselling: The report should carry thereminder to the referring physician that ‘genetic tests should beaccompanied by genetic counselling’ (or similar). In certain cases(prenatal diagnosis, presymptomatic testing or results with major
implications for other family members), it is appropriate to indicatethat ‘this result and its implications should be transmitted only in a
specialized genetic consultation’ (or similar).
Family follow-up: When a new diagnosis is made (positive result ina diagnostic confirmation), it is appropriate to state specifically that theresult has ‘potentially important implications for other family members’
or equivalent. Depending on the context, it may be appropriate to
explicitly mention the recommendation to test the partner, thepossibility of cascade screening tests in relatives, the possibility of
prenatal diagnosis or preimplantation genetic diagnosis. Where appropriate, the risk for future offspring should be calculated and provided(using carrier frequencies from an appropriate population).
It should never be stated that prenatal or presymptomatic diagnosis is‘indicated’ or ‘necessary’. The role of the laboratory does not go beyond
stating that prenatal/presymptomatic diagnosis would be possible.
INTERIM REPORTS
It may in some circumstances be useful to issue a report before allstudies are complete (for example, when indicative preliminary results
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have been obtained, but a long delay is expected before the final
results will be ready). Interim reports should be clearly marked assuch and should be worded to avoid misinterpretation of their status.
Thus, phrases or summary statements appearing to give a definitive
result should not be used. It should be clearly stated which analyses
are still underway.
The definitive report should clearly state which are the new results,
and should include a general conclusion, taking account of all results.
REPORTING MULTIPLE PATIENTSAs a general rule, each unrelated patient should be reported on a
separate and unique document, as the reports will ultimately be filed
in individual patient or family files (as well as for reasons ofconfidentiality).
When several family members are analysed simultaneously, policies
vary as to whether they should be reported on the same or on different
reports. This will depend on the disorder, on the nature of the analysis
and also on the legislation (in some countries, familial analysis andprenatal diagnosis for hereditary disorders can be referred only byclinical geneticists, and family files are stored only in genetic centres,
and only relevant information is delivered to each individual).
Predictive test results must always be reported as separate,individual reports.
Linked-marker studies are only useful in the context of alleles
inherited by several family members, which must be included in thereport. It is recommended that the number of individuals
reported should be limited to only those essential for accurate
analysis. An interpretation and final risk should be given for only
one person per report.
For prenatal diagnosis, it is recommended that the report includes
only the result of the fetus. Parental results should be cross-referenced,
but their results reported separately.
In carrier testing for a recessive disorder for a couple, the test resultsfor one partner must be interpreted in light of the other partner’s
results. Laboratories may issue a single report, or separate reports
with cross references to the partner’s results (as the couple may
separate). It is recognised that, in some jurisdictions, it is not
permissible to mention more than one individual in a clinical report.
Where the result of the parents is needed to interpret the result in
the child, only the array result of the specific CNV(s) in the parents isgiven in the child’s report, and not the full array results.
DISCLAIMER
Disclaimers should only be included where they are relevant anduseful; inclusion of multiple disclaimers on every report whether
relevant or not is discouraged.
Where relevant, mention the possibility of errors due to factors
beyond the control of the laboratory (for example, the risk of ‘nonpaternity’ and the need for family relationships as stated on theEuropean Journal of Human Genetics

referral forms being correct; limited validity of biochemical testing if
pre-analytical conditions were not well controlled).
In indirect (linkage) analyses, it is sometimes advisable to state thatthe ‘accuracy of the result depends on the clinical diagnosis and theassumption that gene X is responsible for the disease’ (or similar).
Laboratories might wish to add a note of caution when reports are
based on DNA samples or reports sent from another laboratory.
It may be advisable to add a standard phrase, indicating that ‘thisreport may not be copied or reproduced, except in its totality’.

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