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Genetic test results open to interpretation

1 June 2015
Appeared in BioNews 804

A report has warned that the interpretation of genetic tests often varies between labs and may result in incorrect clinical decisions being made.

The study, published in the New England Journal of Medicine, found that 17 percent of nearly 13,000 unique gene variants were interpreted differently when analysed by more than one lab.

Of these assessments, 415 were so different that the clinical outcome of the test - such as whether or not to provide preventative treatment - would likely change.

'There are so many variants across our genomes that it's too much of a daunting task for one lab to interpret those variants themselves,' co-lead author Dr Heidi Rehm, from Brigham and Women’s Hospital (BWH) told the Boston Herald. 'When you talk about these rare diseases, the stakes are very high. You need to get it right. '

The report was the first from the US Government-commissioned ClinGen, established in 2013, which aims to build a genomic knowledge base to improve patient care.

The ClinGen consortium of investigators from BWH, and Partners HealthCare, both of Boston, Massachusetts, have launched an open-access database, ClinVar, to which researchers, laboratories, clinicians and patients can upload genetic and phenotypic data. An expert panel will then review the evidence for the clinical relevance of specific variants in an attempt to standardise their interpretation.

So far ClinVar contains 170,000 submissions from international laboratories, and its website, which enables clinicians and patients to look up specific gene variants, receives around 5,000 hits per day.

The researchers explain that, although the cause of more than 5,000 genetic disorders is now understood, the role of the majority of the 80 million variants so far discovered in the human genome is still unknown, and accurately assessing genetic variation remains a major obstacle for genomic medicine.

They say that one of the reasons for this is due to a 'silo effect', where academic and commercial organisations maintain isolated databases of genetic information. They suggest that all labs should use shared genomic data to reduce the risk of misinterpretation.

'Healthy competition among isolated entities is no longer sufficient to drive our understanding of human variation, and patient care may be compromised when data are not shared,' they write.

'If society is to understand human genomic variation and reap its benefits in clinical care, large collaborative efforts will be the only way to amass sufficient data and distribute responsibility for critical review.'

A new era for genetic interpretation
Eurekalert (press release) |  27 May 2015
ClinGen - The Clinical Genome Resource
New England Journal of Medicine |  1 June 2015
Misinterpreting data still a high risk, study says
Boston Herald |  28 May 2015
Study reveals flaws in gene testing; results often conflict
Associated Press |  27 May 2015
Well, What Does it Mean?
GenomeWeb |  28 May 2015
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