Personalized medicine, with the aid of molecular diagnostics, is providing the exciting possibility of cost-effective tailored therapies, based on an individual patient’s genetic code. This is particularly true in the case of cancer where a single nucleotide polymorphism (SNP) out of a three billion-base genome can be the difference between having, and not having, an actionable drug therapy.
However, identifying this one-in-abillion can be tricky; with the multiple steps of a diagnostic workflow, any variability that creeps into each step is further compounded downstream potentially leading to incorrect diagnoses. The need for consistent accuracy in order to provide a precise diagnosis and effective tailored therapy is therefore critical. So what progress is being made?
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At a glance:
- Molecular diagnostics are making personalized medicine a reality, with companion diagnostics supporting progress towards the goal of a precise diagnosis and a tailored therapy
- Europe has seen the approval of an EGFR tyrosine kinase inhibitor to have a label indicating the use of cellfree DNA obtained from a blood sample; the first of its kind, but large variances in concordance rates between circulating tumor DNA and tumor tissue have been reported
- More is clearly needed to ensure accuracy of mutation testing; an incorrect outcome could be potentially life-threatening
- Inaccuracies and errors made by diagnostic labs using a wide range of methodologies can be reduced though, using reference materials, and annual participation in EQA should be seen as the norm