Giving Patients a Voice
This interview first appeared in Issue 2 of Front Line Genomics. Alastair Kent OBE is the Director of Genetic Alliance UK, a national charity that aims to improve the lives of people living with genetic conditions.
Both the USA and UK Governments have committed to developing precision medicine, through large scale sequencing projects. The key stakeholder and primary beneficiary in this will be patients and their families. Following the launch of the Genetic Alliance UK Patient Charter, Alastair Kent talks to us about patient-power.
On both sides of the Atlantic, large scale genome sequencing projects are underway. Both are focused on empowering patients to lead the integration of genomic sequencing into healthcare. Genetic Alliance UK have captured the patient voice in their Patient Charter on Genome Sequencing – A document that makes 15 recommendations for the incorporation of genomic sequencing into the NHS. It is hoped that the Charter will influence policy and decision-makers to encourage more in-depth and creative public and patient involvement in health care decision-making. As a document it is remarkably powerful as a representation of the patient voice.
FLG: You’ve been Director of Genetic Alliance UK for over 20 years now. A lot has happened in that time. Arguably, now might be the most exciting time for genetics and genomics in healthcare. What have been the biggest milestones for you in your time as Director?
AK: What has been really exciting is seeing the kind of progress towards generating understanding of the biology of some of these horrendous conditions, and in some cases moving towards the point of which we can intervene to change the path, to improve quality and quantity of life for patients and for families who are affected by previously incurable conditions. That steady kind of progress over what’s really a very short timescale has been hugely exciting.
FLG: The patient voice is one that, at times, remains unheard. In the case of the genomic revolution, it is getting harder to ignore the growing calls that patients want to be part of it rather than sit back and let it happen to them. Here in the UK there is a real drive from Genomics England to integrate genomics into routine healthcare. How important is it that patient voice to be able to do this?
AK: The patient voice is absolutely essential; patients are uniquely qualified to add insight into the way in which genetic diseases, rare diseases, affect their lives and the impact on the quality and quantity of life that they can expect to enjoy. It’s also the case that active participation by patients, and by families, as partners in the research and development process increases both the quality and effectiveness of the research. It allows for the identification of targets that are really important to those affected and also for the creation of methods for investigation that patients and families are able more easily to support and participate in. So it has a benefit both for the planning and delivery of research but also in terms of the effectiveness of the outcomes and the opportunity to deliver real benefit.
FLG: In your recently launched Patient Charter on genome sequencing, there was a lot of support and demand for genetic counsellors to be an integral part of the genomic journey for patients. I think it may have surprised some, just how much importance patients place on their profession. Does this show that we need more genetic counsellors, or is it indicative of the lack of a particular skill set in today’s front line practitioners?
AK: It’s an indication of both of those. What patients in this situation want is the opportunity to understand the implications of insights that are revealed through analysis of their genome. That needs a framework within which you can discuss what’s known, what its implications might be and how you are going to handle it in terms of your own life and your family circumstance. For that, genetic counselling is crucial to create the relationship which makes this possible. So clearly there needs to be an increase in the number of qualified genetic counsellors who have gone through proper professional training to build this relationship – but also other healthcare professionals, clinicians, non-geneticists, nurses, midwifes etc. need to understand how to incorporate communications around genetically based insight into their daily practice. It’s not just something you can say “oh this is genetics I need to shove it off to a genetic counsellor” and ignore it. It needs to be incorporated into the way in which you build the relationship with patient and family such that you are able to modify your professional practice in the light of emerging knowledge from Genomics England and the 100,000 Genomes Project.
FLG: We are often told that we are on the cusp of a new age in healthcare, with the boom of genomic technology and information. Data has had a major impact on how we interact with the world around us. The rise of the smart phone has been the big enabler of the data-centric life style many of us live. Is NGS the big innovation that makes genomics part of everyday life, or is that big ‘smart phone’ moment yet to come for genomics in healthcare?
AK: I think it will. But I think we need to make sure that we create the infrastructure, the framework that will allow it to influence the way in which we think about planning and delivery of healthcare. Also the way in which we incorporate insights from genomics into maximising the opportunities for people to enjoy a healthy lifestyle or a healthy life even. But that’s not going to happen without some strategic thinking about how to do this, and without some investment in creating the insights, and the tools, and the opportunities for that new knowledge to be translated into things that are directly applicable by people in their everyday lives.
FLG: Education and engagement is an important aspect in the successful transitioning of genomics into routine healthcare. There has been a lot of research carried out recently into the ethics of patient consent. On the one hand, you have patients themselves telling you that they want as much information as they can get, and support the use of their data for research. On the other hand, you get some in the field who suggest patients are not well informed enough to fully understand what they are consenting to. What is the real risk a patient might run by being involved in a genomic clinical trial that they do not understand fully?
AK: Well I guess the primary risk is that they will be disappointed. If they don’t, as it were, form a realistic understanding of what the likely outcomes might be for them (and how long it might take to bring these about), then the biggest risk is that they will be disappointed. They will be frustrated and the future sustainability of the research effort will be compromised. I think it’s probably a throwback to a more paternalistic history that people think that patients are not capable of understanding complex issues incorporating a high level of uncertainty as to the robustness of the knowledge on which they’re being asked to make decisions. I mean, everyday life is full of uncertain decisions – if we never took a decision where there was an element of risk we would still be squatting in caves waiting for the sabre tooth tigers to eat us because we were frightened to pick up the burning brand and scare them off.
FLG: Is there a risk of giving too much power over to patients?
AK: I would say no. Patients are absolutely the ultimate beneficiaries of the appropriate application of this new knowledge and they should be integral to the process by which the research and development is guided and developed. The rhetoric of “nothing about us without us” actually should be central to everything.
FLG: With so much hype around genomics at the moment coming from the very top of politics, is there a danger of over-hype?
AK: Oh yes, yes. I don’t think this is unique to genomics, it’s a feature of an awful lot of everyday life that we seem to have lost the understanding of how long things take. That’s not to say that we can just kind of take our time and let things roll on under their own momentum and be laid back. We need to keep the pressure on but it takes time for ideas to mature, to be tried, to be translated into applicable interventions that people can use. We must be sensible in the way in which we expect the benefits to be rolled out. Part of the problem is that we have got so many conflicting time scales – politicians want massive results before the next elections; scientists need a reasonable degree of expectation that if they deliver outcomes that have quality, and are sensible, then their research funding will be renewed; industry needs to think about patent license and what have you. All of these conflicting time scales tend to point us towards short term outcomes, rather than recognition of the need to accumulate quality insight and translate them sensibly into changes in the way in which we do things.
FLG: Recently, 23andMe launched in the UK. There are concerns around the legitimacy surrounding reported results, and the potential distress they might cause. A counter argument is that it might be a good way to introduce core concepts to the public and grow familiarity with genetic information. Ancestry tests have already proved quite popular. Should we be doing more to encourage people to explore their genetics on their own terms?
AK: I think any offer of access to genetic or genomic information about yourself in a healthcare context should be absolutely supported by comprehensive and comprehensible information delivered in an environment where there are opportunities to ask questions. The thing about genetic information is that it’s a one-way street. You can’t un-know something about a current, or a future, health risk once you’ve got it. So, therefore there needs to be the opportunity for someone to think “do I want this information and how am I going to handle it if I do”. There’s a world of difference between discovering that ostensibly you are descended from a pharaoh and discovering that you may have a predisposition to a life limiting condition. One is entertaining, the other is potentially life changing but not necessarily in a good way unless it comes with the knowledge that allows you to take actions that might mitigate that risk.
FLG: With your third Patient Charter launched, what’s next for you and Genetic Alliance UK?
AK: We’ll continue to make sure that the voice of those affected by life- limiting conditions and their families is heard in the policy and the practical process for supporting high quality sustainable biomedical research and for the development of timely and appropriate services and support for those affected or at risk. There’s also a lot more to be done in terms of continuing the conversation with patients about genome sequencing as this technology makes its way into mainstream clinical care.
FLG: What keeps you motivated to keep fighting for patients?
AK: I guess it’s the sense that it’s real. If we can build that critical mass, if we can articulate the patient, the family expectations, which by and large are reasonable and rational and not unrealistic. If we can build that and present it to those people with the opportunity and resources to bring about change than it is likely quality and quantity of life for those with currently intractable genetic diseases will be improved, and it will be improved more quickly because of that input than might otherwise be the case. That, frankly, seems an issue that’s worth getting out of bed in the morning for.
FLG: For patients with rare disease one of the most difficult things to deal with can be the delay in getting a diagnosis. What will the recent advances in genomics mean for the rare disease diagnostic odyssey?
AK: Potentially they will have a major impact. With increased insight into what whole genome sequencing can tell us about current and future health then this will potentially shorten the time to an accurate diagnosis very significantly. It won’t happen immediately – it’s important to realise that just because we can sequence a genome, doesn’t mean that we understand what that sequence means in all its detail. Building the insight to allow the interpretation is currently the rate determining step. Obviously there are significant efforts being made to try and shorten that process. The clinical interpretation partnerships that Genomics England are setting up is one tool that will hopefully link what we can see or predict in our bodies with what we can determine from our genomes much more quickly. And that linking of societal, of clinical, of observable information with insight into the genome will help us to build that accurate diagnostic framework that will allow patients and families to learn more quickly and more accurately what the situation is in which they find themselves and what they can do about it.
FLG: What do you think healthcare will look like in the UK in 15 years time?
AK: Who knows! In terms of technological possibility, we’ve seen progress happening much more quickly than we would have thought even a few years ago. If someone had said in 2000 when the first draft of the human genome was produced, after hundreds of thousands of scientific years of effort and billions of dollars of investment, that in 15 years you would be capable of sequencing a genome for under a $1000, people would have said “get real, which planet are you on!?” So I think the opportunity that scientific progress is creating is huge. But of course healthcare systems are hugely complex organisations which have got a kind of momentum all of their own, so changing the way in which we do things in healthcare to adapt to these new insights into disease and its management will require consistent and sustained pressure and the ability to make tough decisions about allocating and reallocating resources in order to build a framework which will allow this new knowledge to be translated into better outcomes for patients.
FLG: How can people help to get us there?
AK: By engaging with the issues. By thinking about how the new knowledge will transform their understanding of situations and by being creative in their willingness to embrace change and new ways of working with patients, with families and across professional and institutional boundaries so that bright ideas can be translated into patient benefits in a way that is timely, that is user friendly and that is sustainable.