Genetic Alliance’s report makes recommendations for the clinical use of whole genome sequencing, and the healthcare professionals that would support it
The charter is the result of an online engagement project run by Genetic Alliance UK, an umbrella body for more than 180 organisations representing patients and families with genetic conditions – heritable diseases caused by genetic abnormalities, sometimes very rare.
Genome sequencing technologies are making it increasingly feasible to identify the underlying cause of a suspected genetic disease. Currently, many patients remain undiagnosed, although a genetic condition is presumed to be present. However, whereas once only very small portions of the genome could be investigated, it is now practical to sequence much larger regions, or even the patient’s whole genome of 3,000 million base pairs.
Patients with rare diseases, along with cancer patients, form the backbone of the NHS-linked 100,000 Genomes Project, and it is probable that access to clinical genome sequencing will result in many new specific genetic diagnoses for such patients. But what do they actually think about it?
Approval with caveats
Not surprisingly, respondents to Genetic Alliance’s survey (all of whom have, or have a child that has, a diagnosed or presumed genetic condition) were generally enthusiastic, but they also had definite opinions about how it should be offered within the health service.
Diagnosis was considered the priority, ahead of other research or clinical uses such as later re-analysis of the genome sequence, or screening to identify genetic risk factors for unrelated diseases. The potential risks and benefits of such ‘opportunistic screening’ were thought to merit ‘further discussion and research’.
Patients favoured a dynamic consent model, whereby their permission would be sought every time their genomic data was analysed, rather than their giving a broad consent to all reasonable research use of the data – although they were also keen that it should be shared for research purposes.
It was felt that consent should describe the aims of ‘all stakeholders that might access their data’ – and any implications for insurance. At the moment there is a voluntary moratorium on the use of predictive genetic test results for insurance purposes in the UK, and the intention of the 100,000 Genomes Project is that all genomic data made available for research will be anonymised. Nevertheless, patients clearly had concerns about this issue.
Role of health professionals
Similarly, on the whole respondents wanted a ‘flexible approach to the feedback of incidental findings’ with the support of a trained professional, such as a genetic counsellor, before and after genome sequencing.
Health Education England is developing a training course for healthcare professionals consenting patients onto the 100,000 Genomes Project. The course will cover the key steps of the project’s protocol, what to consider when preparing for the consent conversation, and how to address patients’ questions and concerns.
It is worth noting that a survey of NHS patients without a genetic disorder might have different priorities for clinical whole genome analysis than the 144 patients that Genetic Alliance UK surveyed. Moreover, over 85% of the survey respondents were female and over 89% identified as ‘white British’, so a more representative sample is needed.
Nevertheless, their opinions are significant. The charity’s director Alastair Kent observed that patients’ responses represented “a growing determination by patients to be partners in the process of managing their future using genetic information”.
This determination should be evident in the 100,000 Genomes Project as it rolls out fully this year. As part of its development work, Genomics England has embarked on a programme of public and patient involvement led by head of engagement Vivienne Parry. For more information, visit the Genomics England website.