15th October 2016

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Following a very successful Big Ideas Day, Professor David Porteous and colleagues held a public participation "Science Saturday" event with the National Museums of Scotland. In the main auditorium, the question was put to the (mainly adult) audience: ‘Should we sequence everyone’s genome at birth’? The audience was initially sceptical. David Porteous summarised the history of human genome sequencing, explained how the cost and time taken to sequence the human genome has plummeted in recent years and pointed out that genetic testing for several severe disorders is already conducted routinely in the NHS at birth, using a pin-prick blood sample from the heel of newborns.

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Professor Tim Aitman, Director of the Centre for Genomic and Experimental Medicine at the University of Edinburgh, described his own experience of having his genome sequenced and analysed, as well as discussing examples from his current research into identifying genetic mutations underlying life-threatening conditions. He went on to explain how this has led to the University of Edinburgh investing in the latest gene sequencing technology for research and clinical genetics practice.

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Sarah Cunningham-Burley, Professor of Medical and Family Sociology at the University of Edinburgh, outlined some reasons for caution, including too much information that could not be matched to treatment, or which could be potentially misused or misinterpreted. She introduced a former PhD student, Dr Nicola Coates-Dutton who spoke passionately and convincingly about her personal search for knowledge from genetic analysis, as to the cause of the rare and complex birth defects affecting two of her three children.

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After the discussion, the audience voted again and was more positive about human genome sequencing. It will be interesting to see how attitudes change in the coming years.

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The event was funded from the Wellcome Trust-sponsored Institutional Science Support Fund to the University of Edinburgh.