In February 2015 we launched a Patient Charter called ‘Genome sequencing: What do patients think?’. The charter was generated from the views and opinions that we gained from a series of engagement events where patients and families gave us their views and priorities on genomic sequencing. Topics were introduced to patients and families through case-studies and scenarios of families like theirs in free online applications. This work was part of the My Condition, My DNA project.
My Condition, My DNA is a programme funded by the British In Vitro Diagnostics Association (BIVDA), the Medical Research Council (MRC) and the Wellcome Trust. Genetic Alliance UK worked to bring the patient and family perspective on the ethical and societal issues surrounding genomic sequencing to the heart of decision-making about its uptake in the NHS.
What is genomic sequencing?
Genomic sequencing technologies can determine the exact order of letters – As, Cs, Gs and Ts – along a piece of DNA. Whilst ‘traditional’ DNA sequencing methods involve the analysis of one gene after another to try and identify where a genetic alteration may be, new methods are allowing multiple genes to be sequenced simultaneously as well as an individual’s whole genome.
The information provided by new genomic sequencing methods could aid diagnostic testing, targeted treatment, gene therapy and the production of therapeutic proteins.
These technologies are in the early stages of being introduced to genetic laboratories and in 2013 the UK Government committed to introducing new genomic sequencing into mainstream clinical practice. Later this year (2015), NHS England will be reviewing the use of genetic sequencing technology for genetic testing and will be reconfiguring laboratory services.
Genomic sequencing offers great potential for the effective diagnosis and management of many genetic conditions yet it raises many ethical and societal issues that are important to patients and their families, who will be the end-beneficiaries of such technologies.
For example, who should have access to the data generated by genomic sequencing? If genomic sequencing reveals a clinical finding that is not related to the condition being tested for, should this information be relayed to the patient? What level of follow-up counselling should be provided after genomic sequencing results have been communicated? These are just some of the questions where we think the views of patients and families affected by genetic conditions are important.
The Patient Charter makes 15 recommendations for consideration before genome sequencing becomes widely incorporated into NHS services. Recommendations are grouped under four broad themes, based on what patients told us was important to them.
Patients want the option to receive as much information about their health as possible from genome sequencing
- A flexible approach to the feedback of incidental findings to patients should be developed
- Further discussion and research on the risks and benefits of opportunistic screening needs to be had with patients, the wider public and healthcare professionals
- Obtaining a diagnosis should be the priority when genome sequencing is used in clinical practice and this should be reflected in the resources allocated to re-analysis and opportunistic screening
- Dynamic consent should be the standard model of consent when genome sequencing is used in clinical practice
- All findings from genome sequencing should be returned to patients by a trained professional, such as a genetic counsellor
Patients value genetic counselling and are keen for the support of genetic counsellors before and after genome sequencing
- All patients should be able to access a dedicated genetic counsellor before having their genome sequenced
- More support should be given to the training of genetic counsellors as the need for their services increases
- Statutory regulation of genetic counsellors needs to be established to ensure the services delivered to patients and families are appropriately assured
- Training for genetic counsellors should include education on genomic information
- All healthcare professionals should be trained to have a basic understanding and knowledge of genetics and genomics
Patients welcome the sharing of their genomic data for research purposes
- The NHS should take steps to enable the safe storage and sharing of patients’ genomic sequence data to maximise research opportunities
- Information provided to those having their genome sequenced should clearly describe the aims and objectives of all stakeholders that might access their data, and clearly communicate any implications for insurance
- Research to better understand newly identified conditions, investigate potential treatments and define prognoses should be incentivised
- Research studies and clinical care involving genome sequencing should be more closely integrated to reflect the patient experience
Patients think that the NHS needs to make more progress towards preparing for the integration of genome sequencing into clinical practice
- The NHS should engage with the patient community to develop accurate and comprehensive information on genome sequencing.