Weighing up evidence in genomic testing

Critically assessing the scientific evidence base is a crucial step in determining which variants may be contributing to a patient's condition.


Genome sequencing can identify differences (known as variants) in people’s DNA that could cause or increase their risk of specific inherited conditions.

The tools to sequence an individual's genome for healthcare have only become available in the past decade. Our understanding of the human genome is far from complete, and the effect of many variants is still poorly understood. Each genome sequenced increases the evidence base, and our understanding of which variants cause disease and which don't will improve as more people have their genome sequenced. 

An important step of the genomic testing process is critically assessing the scientific evidence base to help with the decision as to which variants may be contributing to the patient’s condition.



When one sequences the genome of an individual, one generates an enormous amount of data. It’s very important both now and in the future, that one be guided by scientific knowledge and evidence.

So we’ll be taking the scientific evidence we have, we’ll be looking at the genetic variants we find, we’ll be comparing these with the body of knowledge to find out which of these are associated with disease.

No other branch of pathology involves so many different specialists, all delivering their skills and craft to the final diagnosis. We have doctors, we have scientists, we have bioinformaticians, all bringing their skills together and those skills come together in the final interpretation and report that goes out.


Tags: video, genomic testing, genetic disease, genetic pathology


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Kinghorn Centre for Clinical Genomics, December 2018.
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