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Study finds words matter in genetics

An international team of researchers has highlighted the need for consistent terminology in genetic testing and reporting.

Members of the ENIGMA consortium, led by Associate Professor Amanda Spurdle from QIMR Berghofer Medical Research Institute and Professor Diana Eccles from the University of Southampton, have written a position statement, which has been published in the Journal of Medical Genetics.

The researchers analysed the use of different terms – such as mutation, pathogenic, deleterious, moderate risk, and modest risk – and found there were vast inconsistencies in how the terms were used in the interpretation and reporting of genetic variants.

Associate Professor Spurdle said it was important to simplify standard terms that would be widely accepted and consistently used among scientists and clinicians.

“Genetic test reports for patients are read and interpreted by different groups including clinical geneticists, genetic counsellors and oncologists,” Associate Professor Spurdle said.

“That means there needs to be consistency and clarity in how terms are used and how different variants are described, or it can lead to misinterpretation of information in reports, leading to patients receiving inappropriate medical management.

“For example, we need to be very careful about our use of terms like pathogenic and non-pathogenic because the way different health providers interpret these terms can have implications for patient treatment.

“Genetic and genomic testing is becoming more and more common, so we think it’s important to introduce accepted standards now.”

The authors have made recommendations for consistent terms that all researchers should use.

They have also proposed a different approach to clinical reporting to more clearly capture how different variants might affect risk to a different extent, and how this can be translated into clear clinical reports that guide decisions about appropriate interventions for patients.

“Furthermore, we believe there needs to be greater collaboration between geneticists and clinicians to determine the contents of patient reports,” Associate Professor Spurdle said.

“For example, the clinical significance of moderate risk variants to an individual – that is, the medical management of an individual who carries such a variant – depends on that person’s family history.

“If geneticists and clinicians discuss the results beforehand, they can personalise the report so it is more accurate for the individual, rather than by simply reporting the general risks associated with variation in genes.”

Professor Eccles said the reporting proposal built on the team’s 2008 proposal, published in Human Mutation, which recommended adopting a five-tier classification system for high-risk cancer susceptibility genes.

“In the ensuing decade it has become increasingly clear that weighing all the evidence to conclude whether a variant in a single gene is likely to increase cancer risk remains an essential starting point,” Professor Eccles said.

“However, this is not sufficient to determine the clinical importance of a variant, particularly for genetic variants associated with much smaller increases in risk than the well-established ‘high-risk’ genes.

“It is really important that clinicians appreciate how much the individual context can influence a person’s cancer risk over time.

“We believe that these recommendations have wider implications beyond cancer risk genes, since the concept of individualised clinical management for patients extends to other diseases.”



ENIGMA is an international consortium led by Associate Professor Amanda Spurdle. It is focused on determining the clinical significance of sequence variants in various known or suspected breast cancer genes, sharing this expert opinion with global databases and classification initiatives, and exploring the best ways of communicating the information with health care providers and patients.