Optical genome mapping

Policy briefing

Our briefing on optical genome mapping explores its potential use as a scanning technology in the diagnoses of cancers, tumours or rare diseases.

A summary of our briefing:

  • Optical genome mapping produces digital genome maps that can identify structural variants from 500bp to those spanning millions of bases within the human genome. This could address the limitations of cytogenetics and next generation sequencing by using DNA fragments that are hundreds of thousands of bases in length
  • There is only one company currently producing optical mapping consumables, equipment, and analysis software
  • Optical genome mapping is gaining traction in haematological cancers, solid tumours and rare diseases, and aims to provide genetic diagnoses to patients and increased depth of information to clinicians
  • The technique can be combined with next generation sequencing data to potentially provide the most in-depth analysis of the human genome so far achieved
  • Optical genome mapping is not yet in widespread clinical use and needs further refinement in key areas such as turnaround time to improve clinical utility

Alongside our briefing we have produced an infographic to provide a condensed explanation of what optical genome mapping is and its potential for improved human genome analysis


We thank the WYNG Foundation for generously supporting this work. 

Views expressed in these documents do not necessarily reflect those of the WYNG Foundation.

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