What does consent mean for Generation Genome?

Usually when we agree to medical tests or to participate in medical research we have to provide a valid consent to both. For consent to be valid it must not be coerced, it must be sufficiently informed, and the person giving consent must be able to understand what it is they are consenting to. Proceeding without this prior consent is an infringement of that individual's right to control what happens to them, of their right to respect of their autonomy, and puts the healthcare professional in danger of legal action.

These were the sorts of issues discussed at What Does Consent Mean for Generation Genome?, a public event in Manchester produced by the Progress Educational Trust in partnership with Genomics England. The event formed part of the Genomics Conversation programme of events and activities.

The 100,000 Genomes Project run by Genomics England has worked hard to ensure that rigorous consent procedures are in place for those whose genomes are being sequenced. This is especially important when one considers that, when the first 1000 participants of this project in Wessex were surveyed six months after consenting, only 10 percent recalled what they consented to in relation to additional findings.

It is clear that consent needs further investigation and discussion in this context. Genomic medicine presents unique challenges for the consent process.

Unlike specific diagnostic tests, with genetic testing and whole genome sequencing there may not be a clear idea of what exactly is being looked for or what any diagnostic findings might mean for participants. It may also be that sequencing reveals other secondary information that was not specifically looked for or consented to - once identified it might well be information that could inform the choices of the individual and their wider family, but for some it could also be unwelcome and unwanted information.

In the face of this uncertainty, how can sufficient information be provided for a valid consent? There are also further challenges in an already complicated consent process having to deal with the dual aims of individual diagnosis and continuing research. The need for robust but clear and effective consent procedures is even more urgent given that genomic medicine is likely to become a routine part of NHS healthcare for many patients soon.

This public event was chaired by Professor Bill Newman, director of the Manchester Centre for Genomic Medicine. Speakers presented contrasting perspectives on the challenges and possible solutions that genomic medicine raises for the consent process. This panel discussion lead to a fascinating and wide-ranging audience discussion of these issues, with perspectives from many different interest groups and individuals.

The first panel speaker - Professor Anneke Lucassen, leader of the Clinical Ethics and Law research group at the University of Southampton - asked the audience to consider whether trying to make consent work for genomic medicine was simply asking too much. The current consent process is fraught with difficulties that may mean valid consent is extremely difficult to achieve. Instead, should we try something more effective?

This perspective was followed by Professor Sue Hill, the NHS Chief Scientific Officer for England, who outlined the lengths that have been gone to - including lengthy consultation with an ethics committee and patients - to maximise the effectiveness of the current consent process for the 100,000 Genomes Project. She suggested the consent procedure might be improved by a separation of the clinical, research, and additional findings elements of genome sequencing. This could allow participants to be clearer about what it is they are consenting to, and to minimise any pressure participants might feel to consent to research when they are more interested in a clinical diagnosis.

Tara Clancy, a consultant genetic counsellor at the Manchester Centre for Genomic Medicine, then explored the notion of consent in more detail. She explained the complexity of different kinds of consent and their importance in clinical practice and research, and the problems that genomic medicine raises for consent processes. She argued that a different 'gist-based' thinking might be a better approach than trying to pin something down that is, by its very nature, ambiguous. She also emphasised the important role that genetic counsellors play in this kind of process.

The final panel member was Jillian Hastings Ward, chair of the Participant Panel for the 100,000 Genomes Project and mother of a child affected by an undiagnosed genetic condition. Hastings Ward was able to share the important perspective of those participating in genome sequencing. It is paramount that this is remembered throughout this process, and that participants' voices are heard.

Following the panel speakers, questions from the audience provided a valuable opportunity to widen out the debate. For instance, questions were raised about the potential problem of the participants' panel of the 100,000 Genomes Project only containing individuals who have consented to participation in the project, with the suggestion that perhaps those who did not consent should be included too. Other questions involved the scope of genome sequencing, and the identification of behavioural traits as well as medical conditions.

Some audience members focused on the problem of what might replace the existing consent process. Should we use online or mobile technology to enhance this process? Might existing opt-out or presumed consent models of consent be a solution here? Should there be a separate consent when it comes to consenting to sharing data with industry? Is the focus on consent really missing something? When it comes to screening and informing of incidental findings, should we focus on conditions that are actionable?

Others identified areas such as newborn screening, where it was suggested that there are similar challenges for the consent process. Existing consent procedures do not seems to be meeting the needs of patients and their families.

While there was no consensus on the answers to these questions, it seemed that there was consensus on an urgent need to find solutions. These solutions must be able to protect patients from the misuse of their data, and must enhance trust in the NHS and those who represent it. Perhaps the most important agreement was that participants in genomic medicine and research are, as Hastings Ward emphasised, real people. As such, solutions to problems with consent must ensure the protection of their rights, expectations and feelings.

The Progress Educational Trust would like to thank Genomics England, NHS England and the Manchester Centre for Genomic Medicine for collaborating on this event.