Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

Abstract

Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by 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.

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

“…These reports should also state whether MLPA or other methods have been performed to detect large rearrangements. Examples of effective NGS-based reports are included in the reference list 60,61 .…”

Towards a European consensus for reporting incidental findings during clinical NGS testing

“…The ESHG guidelines 23 state that targeted diagnostic testing should always be performed where possible to minimise the likelihood of detecting IFs. 24 Even if the technology captures the whole genome, should the analysis be limited to the diagnostic question?…”

“…25 In contrast, an ESHG policy statement advises that genetic testing should aim to be targeted at the primary clinical question. 6,23 At face value these views appear to represent two extremely different points of view. Yet recent discussions during the ESHG 2014 conference in Milan, Italy, and the European Conference on Rare Diseases & Orphan Products 2014 in Berlin, Germany, suggest that a general consensus may be attained in the near future.…”

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring

“…In addition, they must gather sufficient experience to be competent to report such cases according to international guidelines. 8 The training required for registration as a clinical laboratory geneticist varies between countries. For example, the training program of the Canadian College of Medical Geneticists (www.ccmg-ccgm.org) requires that at least 100 cases are analyzed in the laboratory and over 200 cases are evaluated and reported during a 2-year period.…”