Making Genomic Medicine Safe - The Process of Genetic Diagnosis and Communication of Genomic Results

10–12 October 2017

Wellcome Genome Campus, UK


The simultaneous introduction of whole exon sequencing and whole genome sequencing into routine clinical practice, together with the mainstreaming of genetics, creates a situation where results of variable clinical impact and variable reliability will potentially be given to patients by clinicians who are unfamiliar with genetic reports and ill-equipped to understand and explain them. To address this issue, Health Education England has embarked on a multi-million pound educational initiative to educate the NHS workforce. Education is however only one approach to this issue and other strategies are worthy of consideration to complement this educational initiative.

The purpose of this retreat was to take a holistic approach to some of the issues relating to the communication of results from clinical genomic analysis. Including exploring the hypothesis that one approach is to issue simplified reports that do not require specialist knowledge to interpret and thence would be accessible to a well-informed patient and their clinicians.

The specific aims were:

  1. Maintaining safe diagnosis for patients when mainstreaming a powerful but immature diagnostic technology
  2. The essential requirements of a genomic test report: what information for whom? To clarify duties and liability arising from the process involved in establishing a genetic diagnosis and patient rights to genomic data
  3. Establishing patterns of work to maximize diagnostic benefit and minimize harm. Optimizing clinical/laboratory interaction and multi-disciplinary working
  4. Communication to non-specialist clinicians and patients. How to ensure clarity in reports by optimising language, terminology, design and layout?

Scientific committee

Scientific lead

Helen Firth
Cambridge University Hospitals, UK

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