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Genome sequencing: What do patients think?

2 March 2015
By Alice Hazelton
Genetic Alliance UK
Appeared in BioNews 792

Genome sequencing offers great potential for the effective diagnosis and future treatment of many conditions. Coupled with the fact that the speed and cost of sequencing a human genome have dropped dramatically, this means that for the first time genomic medicine could become a reality for NHS healthcare. But while the excitement continues to grow around the science, few have stopped to ask what patients, the ultimate end-beneficiaries of this technology, think about the use of genome sequencing in healthcare.

Through an online engagement project, 'My Condition, My DNA', Genetic Alliance UK sought the views of patients affected by rare and genetic conditions, both diagnosed and undiagnosed, on genome sequencing. Four sessions including text, podcasts, videos and questions were distributed to patients over the course of four weeks, allowing them to take part in the comfort of their own homes at a time convenient for them.

Based on what patients told us was important to them we created our third Patient Charter, which makes 15 recommendations that should be considered before genome sequencing becomes widely incorporated into NHS services. These recommendations can be grouped under four key findings:

1.    Patients want the option to receive as much information about their health as possible from genome sequencing.

2.    Patients value genetic counselling and are keen for the support of genetic counsellors before and after genome sequencing.

3.    Patients welcome the sharing of their genomic data for research purposes.

4.    Patients think that the NHS needs to make more progress towards preparing for the integration of genome sequencing into clinical practice.

Our third Patient Charter was launched at the Wellcome Trust in front of an audience of expert stakeholders. The Minister for Life Sciences, George Freeman MP, delivered a keynote speech, and this was followed by a panel discussion chaired by our Director, Alastair Kent OBE. Members of the panel included a genetic counsellor, Georgina Hall; a parent of a child with an undiagnosed genetic condition, Rachel Jeffares; Dr Nick Lench, Chair of the Joint Committee on Genomics in Medicine; Nicola Perrin, Head of Policy at the Wellcome Trust and Dr Jo Whittaker, representing the UK Genetic Testing Network.

To further mark the launch of our Patient Charter, we organised GenomeSeqWeek, a week of events to increase public awareness and dialogue on issues around genome sequencing. On Monday 9 February Vivienne Parry OBE (Head of Engagement at Genomics England) and Dr Anna Middleton (Senior Social Scientist at the Wellcome Trust Sanger Institute) hijacked the Genetic Alliance UK Twitter account to answer questions from our followers about the future of genomics.

On the following night we screened the award-winning documentary, Do You Really Want to Know?, which follows three families who must decide whether or not to take the genetic test to find out whether they will develop Huntington's disease. After the film, Charles Sabine, former NBC news war correspondent and patient advocate, chaired a discussion to explore the uses of predictive genetic testing and genome sequencing and what people think about the possibility of receiving results that they were not expecting.

On Thursday we spent the evening at the pub with Dr Beth Thompson (Policy Advisor at the Wellcome Trust) and Professor Nazneen Rahman (Head of the Division of Genetics and Epidemiology at the Institute of Cancer Research) to debate whether genetic data should be given special status compared with other types of data.

Some of the key issues that were raised throughout the week included: how to invest in workforce and infrastructure to support genomic medicine in the NHS; ensuring that genetic counsellors achieve statutory regulation; how much information should be shared with patients and how best to do this and; increasing the amount of information available to patients to help them to make informed decisions about genome sequencing.

Many questions were asked that remain unanswered. Our Patient Charter details patient priorities for genome sequencing but the pressure is now on for us all to work together to ensure that genomic medicine can fulfill its ambitions whilst taking the patient voice into account.

This is just the beginning of a conversation with patients and the public about the potential of genome sequencing. Genetic Alliance UK will be working to ensure that this discussion continues so please don't hesitate to contact us if you have any ideas about issues you'd like to talk about or events that you'd like to see happen. You can keep up with our work in this area by following us on Twitter @GeneticAll_UK

The 'My Condition, My DNA' project was supported by the British In Vitro Diagnostics Association, the Medical Research Council and the Wellcome Trust.

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