Pharmacogenetics is an area of rapid growth in the UK and internationally. It offers enormous opportunities and challenges to healthcare professionals and healthcare systems. Just one single opportunity is the ability to predict whether patients will get side effects from specific drugs. Just one single challenge is how to regulate in the area of diagnostic tests. Nobody wants to overregulate and stifle innovation and at the same time nobody wants a “Wild West” of under-regulation. But this is an important debate and will have an impact on the number of patients who go to their doctor with the results of a genomics test and ask what they should do. All too often there will not be a clear answer.  

There are no definite answers to many of the questions about the role of pharmacogenetics—but one way to develop thinking is to form a network. The 6th Pharmacogenetics and Stratified Medicine Network Open Meeting Programme was held at the Royal College of Physicians in London on 6 March 2019. There is a growing number of physicians and other healthcare professionals joining the network and also importantly patients—who are seen as vital stakeholders in this area.

There is a big need for education for healthcare professionals in pharmacogenetics. This will not be easy as there is a rapidly growing volume of knowledge with limited time and availability in undergraduate and postgraduate curricula. Could part of the answer lie in clinical decision support rather than medical education? The advantage of clinical decision support is that it can offer real time guidance at the point of care and that can be tailored to the need of the individual patient—if the clinical decision support is integrated into the patient’s electronic health record. Knowledge continually available at your fingertips via clinical decision support on an electronic health record means less of a need to cram more resources into already overcrowded curricula. Pharmacogenetics is partly about predicting an individual’s response to drug treatment and there is a rapidly growing evidence base on such responses. Clinical decision support could help get this evidence base into actual clinical practice.

Could pharmacogenetics help in the production of new treatments? The cost of producing a new drug is now over $2 billion. Part of the reason for this high cost is that many of the early and promising drug candidates fail. Pharmacogenetics has the potential to accelerate drug discovery—by making it faster, less risky, and more open. Traditional pharmaceutical drug development is usually about developing a drug for patients with a single disease, and excluding patients who have co-existing diseases. The problem with this approach is that it excludes many patients who have comorbidities. But pharmacogenetics has the potential to turn this situation on its head. Pharmacogenetics could accelerate new treatments for patients with multi-morbidities associated with ageing, and could help to evaluate them using stratified patient cohorts.  

What do patients and the public think of pharmacogenetics? The short answer is that there is no consensus. It depends on whether they have a relevant disease or not, and the severity of that disease, along with a range of other factors. Many patients want as much information about their disease as possible and whether they will respond to treatment. Pharmacogenetics means that in the future they will be able to get knowledge that is more relevant to them as individuals. Is it all about medical knowledge? Richard Stephens, patient advocate and representative in health and medical research, rounded off his session with the words: “I am more than my molecules, more than my DNA, and the quality of my life is a judgement that I make every day.”

You can find out more about the network here. 

Kieran Walsh is clinical director of BMJ Learning and BMJ Best Practice. He is responsible for the editorial quality of both products. He has worked in the past as a hospital doctor—specialising in care of the elderly medicine and neurology. 

Competing interests: Kieran Walsh works for BMJ which produces which produces the clinical decision support resource BMJ Best Practice.