As new genetic information emerges, it needs to be communicated in the right way to clinicians and patients. We speak to the chief executive of Genetic Alliance, Jayne Spink, about the ways this research will be able to better support personalised treatment.

Why are you interested in the PRSB’s new project?

The concept of pharmacogenetics [the study of how genes affect the way the body handles drugs] is over a century old. However, without the advent of affordable whole genome sequencing [a full genetic analysis], the widespread clinical application of pharmacogenetics would likely have remained impracticable. The NHS Genomic Medicine Service will steadily shift the balance in favour of whole genome sequencing and panels of several genetic tests replacing many single gene tests. We are on the brink of being able to leverage genetic information to guide prescribing practice. We will have the potential to identify new genetic differences that affect how individuals respond to drugs. Individuals and families affected by rare diseases will be amongst the first wave of patients with the potential to benefit from pharmacogenetics. It’s important that mechanisms are found to ensure that data from genome sequencing can be analysed appropriately and the NHS can use the information deliver maximum health benefit for patients.

What are the biggest challenges facing people with genetic conditions when it comes to getting the right healthcare?

Access to early and accurate diagnosis remains a challenge. On average rare disease patients consult with five doctors, receive three incorrect diagnoses and wait four years before receiving a correct diagnosis. Some patients have waited more than 20 years, and around half of all babies born with complex needs of likely genetic origin have historically remained undiagnosed. Diagnosis supports medical management, access to care and treatment and also supports access to support, information and for some, to reproductive choice. Many rare diseases affect multiple systems of the body, which means that several different professionals need to be involved to deliver effective care and treatment. Yet only 13% of rare disease patients have access to someone to fulfil the role of care coordinator. On average rare disease patients travel one to two hours, to attend at least three clinics, at least quarterly to attend hospital appointments. There are an estimated 10,000 rare diseases – and for the majority (around 98%) there is no licensed treatment – and for those where a medicine has been licensed, access can be delayed or blocked by regulatory processes.

Why is it so important for patients that clinicians are able to access specific genetic information in future before prescribing medications?

We would all agree that it’s desirable for the right medicine to be prescribed for the right patient, first time around. When in the future genomic data can be routinely used to support prescribing in order to avoid an adverse reaction, ensure the most effective medicine is prescribed or ensure each individual patient is taking the optimal dose for them, we will have a scenario that delivers better health outcomes for patients and supports effective use of resources for the NHS.

When more of this information becomes accessible, what difference do you think it will make for people?

Personalised prescribing has the potential to deliver the most effective medicine at the best dose without trial and error. This could mean getting symptoms under control more quickly, shortening the length of treatment and for some, avoiding adverse reactions.

What kind of information do people need to know in relation to their genes and medications? 

If we are to collectively benefit from this prescribing advance, we do need to foster a basic level of public understanding – why the best treatment option for me may not be the best option for you. In the future, patients may be able to reasonably expect that a personalised approach to prescribing will be safer and more effective. Equity of access is going to be a real issue. Inevitably, for a period of time we will have two groups of patients, those for whom personalised prescribing is possible because the NHS holds on record pharmacogenetic information and those for whom no data is held. There will also be a challenge in ensuring that as more insights are gained through research, these pull through to patient benefit, that data is analysed more than once and that there is a mechanism for making sure the analysis is translated into clinical practice.

Medication development is one element, but are there any other ways that we can use genetic information to improve future care? 

It’s possible that our genetic make-up could deliver insights about prognosis as well as influence our response to non-drug interventions, and, for example, help to better tailor care plans. In comparison to the focus on pharmacogenetics, there has been (understandably) relatively little interest in exploring the wider influences of our genetic make-up on our response to care. It’s much less likely that there would be clear associations between genetic variations and responses to non-medical interventions, particularly given that our overall experience of care is influenced by a wide range of environmental, social and other factors.