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SMART: A Somatic Mutation Annotation and Reporting Tool for cancer genomics

Powerful Research

It’s difficult to consistently interpret cancer-related genetic changes found in laboratory tests because different systems choose different versions of genes to analyse, and researchers need a standard, repeatable way to combine those results with trusted cancer knowledge (such as OncoKB).

Results

The researchers developed a new software tool called SMART (Somatic Mutation Annotation and Reporting Tool). SMART helps researchers understand genetic changes found in cancer by bringing together information from several trusted scientific databases into one consistent process.

The tool automatically adds information about whether a genetic change is linked to:

  • possible treatment options,
  • resistance to certain treatments,
  • helping to diagnose a type of cancer,
  • or predicting how a cancer might behave.

It also uses a standard approach to decide which version of a gene should be analysed, helping to ensure that different researchers reach the same conclusions when looking at the same data.

The researchers tested SMART against established reference systems and found that it produced results that matched them in every case they checked.

Delivering Public Benefit

SMART could help researchers identify and compare potentially important cancer mutations more quickly and reliably. This could accelerate research into how cancers develop, why treatments work or stop working and which genetic changes deserve closer investigation, helping to build the evidence for more precise cancer care. At the present time, SMART is intended for research use only, not clinical care. It must not be used on its own to make decisions about an individual patient’s diagnosis or treatment.

Enabled by the Wessex SDE

SMART is freely available for other researchers to use and improve. It has been designed for research purposes only.

It is not intended to be used directly to make decisions about an individual patient’s care. Before it could be used in clinical practice, it would need the appropriate approvals, governance, and licences to ensure it is safe and suitable for patient care.

Further information

Health Condition
Generic health relevance
Organisation
University Hospital Southampton
Contracting organisation
Publication link
bioRxiv