Setting the right standards for clinical genome analysis

By Sobia Raza

31 July 2014


Standards and best practice guidelines for clinical genetic services are in place to ensure providers work to the same rigour so that patients test results are accurate and consistent regardless of the location where they are performed. As the scope of genetic testing adapts to incorporate whole genome analysis, the challenge remains to define guidelines that are fit for this era of genomic medicine. Failure to do so could compromise patient safety and hamper access to a potentially transformative diagnostic technology.

In the second briefing note in our series on clinical whole genome analysis, Setting the right standards for clinical genome analysis, we describe how the quality of genetic diagnostic services is currently assured, and explain where additional guidance and changes to current practice will be required to accommodate the increasing volume and complexity of data arising from whole genome testing. Underscored are the key policy considerations for supporting the safe and beneficial delivery of whole genome analysis into NHS genetics testing services. For example how to strike a balance between delivering high quality care and maintaining innovation in the genomic era, and who needs to be involved in developing standards and overseeing quality assurance for genomics medicine?

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