Has Personalised Medicine Become Too Personal?
I’m sure many of you have heard the term ‘personalised medicine’. From Obama to the NHS, it’s the latest buzzword everyone is using. This term encompasses the worldwide initiative to tailor treatments to the needs of individual patients.
While personalised medicine has attracted attention over the last decade, it is not a new concept in medicine. For example, when you seek medical attention you anticipate that you will receive a treatment that works for you as an individual. Even back in ancient Greece, Hippocrates said “It’s far more important to know what person the disease has than what disease the person has” 1. It seems obvious that healthcare professionals have always aspired to give the right medication to the right patient. They assess your symptoms and take note of any medications you’re on to make an informed decision on the most appropriate medication for you at that time. However, even with the best of efforts, medication may not always work due to a range of factors, such as age and gender, genetic makeup, and drug metabolism capabilities, as well as environmental influences, such as smoking and diet 2. Furthermore, there are currently only limited ways to identify whether a patient will respond to medication before treatment is underway.
Personalised medicine seeks to address these issues by using patients’ genetic information. By sequencing the genome, scientists can identify biomarkers that can be used to guide a treatment strategy. Biomarkers are naturally occurring molecules in our body that have been shown to indicate a particular biological process. These can be tested for in the clinic to determine a physiological or pathological state or response potential to a drug. However, genetic factors are not the sole determinants, and other considerations can inform the decision, such as socioeconomic and environmental influences. This initiative has numerous potential advantages which include the prevention of unnecessary treatment, decreased healthcare costs, and most importantly, improvement in patient quality of life.
An example of a biomarker currently utilised is the HER2 gene. 15% of breast cancers have overexpression of HER2, which can be tested for by taking a biopsy from a cancerous tumour 3. If you are HER2 positive, then trastuzumab is considered a treatment option. This is an antibody treatment that is able to target this gene specifically and impairs the gene’s ability to promote tumour growth 4. This has led to improved outcomes with patients surviving longer 5. If the test is negative, patients are prescribed a different medication. This is a success story of personalised medicine and exemplifies its benefits – a disease has different underlying genetic profiles and treatments are given based on this profile which leads to improved outcomes for patients. This ultimately improves patient quality of life and, in addition, saves money by treating the disease sooner and avoiding a longer, more complex treatment plan.
However, is personalised medicine the term we should be using for biomarker-based medicine? In recent years, there has been debate about the proper terminology for the initiative. Precision medicine, genomic medicine, and stratified medicine have all been used in the field of personalised medicine, but there may be a move to settle on precision medicine as the most appropriate term going forward 6. Does this term accurately represent what personalised medicine involves? Perhaps the media are portraying personalised medicine in a misleading way.
The presence or absence of a gene can dictate a patient’s ability to respond to a medication and therefore, which treatment group they are assigned to. One perception in society may be that medications can be made for one person specifically depending on the results of biomarker tests. Precision medicine still means personalised to a certain extent but not at an individual level. Stratification is simply separation of something into groups, and this has lead to the terms precision and stratified medicine being used interchangeably.
We live in a society where the media has great influence over people campaigning for policy change. Facts are not always a top priority, and this can potentially be destructive if there is a lack of public understanding of new science and the advantages and disadvantages it harbours. With the term ‘personalised medicine’ being broadcast over many years this may have (and in some cases has been shown to give) people unrealistic expectations of what this means in terms of the treatment they will receive. This can lead to backlash and public distrust in science and, in turn, can have harmful effects on healthcare services.
A recent study highlights the misunderstanding that the term personalised medicine can introduce. In the study, patients receiving treatment in a breast cancer unit were interviewed and asked about their treatment and the impact of precision medicine on their treatment. The results showed that the process left some patients feeling a less than personal approach to their care, the exact opposite of what they expected when hearing ‘personalised medicine’ 7. This is because, in practice, the implementation of precision medicine can mean more extensive tests and more visits to a range of healthcare professionals. This demonstrates why the term precision medicine is a preferred term amongst scientists and would be beneficial if adopted more widely, particularly by the media. The term places less emphasis on care and suggests it will relate to the biological management of a condition.
Another factor that may have contributed to the confusion surrounding personalised medicine is the boom of companies in recent years that can sequence your genome 8. You can purchase a kit online and get it sent straight to your door. A simple saliva sample is all that is needed in many cases, and you send this back in a tube to the company. They will analyse your sample and send your results back to you. This service is great in some aspects, for example, for people interested in learning about their genetic ancestry. However, this does not depict how precision medicine works in a hospital setting. The NHS and other organisations do not have the funds to sequence everybody’s genome and lack the resources to deliver their results so quickly. Implementing precision medicine is an enormous task that requires integration and cooperation between healthcare, the government, and scientists in both an academic and industrial setting. These companies make the process appear smooth and don’t illustrate the different medical procedures that may be involved if genome sequencing was used to improve management of a disease or illness.
As the media today plays an important role in shaping public understanding of science and medical practice, researchers have sought to study its effect. One study analysed articles to examine how precision medicine was being portrayed to the public and found that personalised medicine was illustrated very positively the majority of the time 9. While there are numerous benefits of personalised healthcare, it can be argued that it is equally important to report the concerns. The study also revealed that personalised medicine was mostly mentioned in the context of cancer with little reference to its application in other disease areas, such as heart disease and cystic fibrosis. Currently, genetic tests aren’t available for every disease, but cancer is not the only one in which precision medicine is being investigated. The researchers concluded that mainstream media has succeeded in presenting an image of ‘personalised medicine’ to the public. However, this image may not be entirely accurate and is not emphasising that it encompasses genetic and non-genetic information to inform a decision on an individual’s treatment. Worryingly, the study also suggested that this overly positive portrayal of precision medicine may cause the public to demand genetic tests prematurely or unnecessarily 10. This highlights the importance of conveying accurate information to the public to ensure they have a realistic understanding of the benefits and limitations of precision medicine.
Ultimately, public health services may benefit from precision medicine. Although these benefits have been seen in the treatment of breast cancer, widespread use of precision medicine across healthcare remains a future goal. Despite facing many barriers, scientists and healthcare professionals across the globe are working to make this a reality. However, journalists may have to be careful and use ‘precision’ over ‘personalised’ medicine to avoid misunderstanding for somebody facing a diagnosis or treatment that may fall under this umbrella. Implementation of precision medicine is a complicated process, but its complexity should be made as clear as possible to the public to manage expectations. After all, personalised medicine does not only aim to help the person but whole populations.
This article was specialist edited by Sonya Frazier and copy-edited by Katrina Wesencraft.