The ethical challenges of precision medicine

Dr Said Ismail, director of Qatar Genome Programme discusses the key ethical questions of precision medicine and what the industry needs to do to overcome them.

Precision medicine could transform healthcare as we know it. But putting it into practice is far from simple and some serious questions have been raised already about ethics.

What is precision medicine?

Healthcare has been transformed in recent years thanks to the explosion of genomic data and the rise of precision medicine.

Precision medicine is an emerging approach for disease treatment and prevention that considers individual variability in genes, environment, and lifestyle. Its potential lies in medical practitioners being able to provide a tailored approach to medicine, rather than a one-size-fits-all solution.

It may sound futuristic, but it has already been applied to real life scenarios with great success. However, to meet its full potential, there are still several challenges medical professionals need to overcome – one of which is the ethics of its application.

Communicating Incidental Findings

When it comes to implementing precision medicine, a key grey area is what practitioners should do with incidental findings. Incidental findings aren’t new to modern medicine. In fact, medical imaging such as x-ray and CT scans often reveal anomalies that are unrelated to what they were originally looking for. This is no different in databank research where additional findings can reveal potential health or reproductive issues for the individual. 

Whilst communicating incidental findings is general practice in genetic research, as it stands, there is no legal duty of sharing additional research findings with patients. Various questions remain as a result. For example, what type of findings should practitioners and researchers communicate? The significance of findings is not always clear. Incorrect findings also occur, and they have the potential to lead to unrequired expenses on healthcare. Should practitioners therefore agree on which specific incidental findings should be communicated, or should communication of findings be mandatory across the board?

The answer to the latter might not be clear cut when we consider communicating conditions or diseases for which there are no known treatments available. Practitioners must consider the psychological repercussions in these cases: is it still advisable to tell someone they have an increased risk of developing a disease, when nothing can be done? Does the individual still have a right to know or is the knowledge only harmful at this point?

The answer is that this must be addressed early on. Genetic sequencing warrants an informed consent process. It is at this initial stage that clinicians should discuss the possibility that any type of genetic testing may yield additional findings and agree whether the patient - or their family - wants to receive such findings.

Genetic Discrimination

As precision medicine becomes a mainstream form of healthcare, practices also need to be put in place to prevent individuals from being discriminated against, based on their genetic make-up. Without this protection, individuals who are discovered to be at risk of certain diseases, or carriers of deleterious genetic variants, could find themselves vulnerable to discrimination from the likes of employers who could decide to recruit only “healthy” talent, or insurers who could offer products based on individuals’ genetic profiles.

In fact, there have already been growing calls to restrict life insurers’ access to genetic test information, as there are concerns that genetic discrimination may discourage people from participating in genetic testing and research. The only way we can address those fears is by creating protections on the genetic information insurers are allowed to access, and ensure that genetic discrimination is outlawed in the same way it is for sex, disability and race.

Theology and Genetics

Another factor to consider is the interplay between genetics and theology. Genetic research – whether that is IVF, genetic engineering, or gene therapy - has often raised ethical questions for religious communities. Religions such as Catholicism, for instance, do not support treatments like IVF and there are minorities of various faiths that have expressed concerns about predictive medicine in the past.

Mainstream Islamic scholarship is actually more permissive than many other religions when it comes to genetic or cellular level interventions. Islamic scholars have also taken a progressive stance on incidental findings, not only encouraging them to be reported, but saying healthcare professionals are obliged to do so if the detected finding causes a life-threatening and actionable disease.

This support for personalised medicine has been reflected in the wider Muslim community; in fact, a recent national survey showed that 71% of Qataris said they would be willing to donate a sample for the Qatar Genome Project.

Nevertheless, as precision medicine is incorporated into mainstream healthcare, practitioners around the world will need to improve the public’s understanding of genetics and empower communities that may otherwise be sceptical of this area of science.

The Next Privacy Battlefield

Perhaps the biggest area for concern from a public perspective is data privacy.

We’ve seen first-hand from some of the privacy violations from social media companies that data ownership is an important and sensitive topic for individuals. Precision medicine demands that individuals contribute their medical histories and genomes to big data research pools, and it is understandable that the public is therefore concerned about the risk of data being exposed. When it comes to personal information, genomic data is as sensitive as it gets.

Questions have also been raised around who owns the genetic data – the medical professionals or individuals - and therefore, whether researchers need to alert participants whenever their data or specimens are used. With data stored for long periods of time, it is impossible to anticipate all future uses of data and information at the start – adding an extra layer of complexity.

Perhaps one of the more surprising solutions to the problem of privacy and ownership is blockchain, since blockchain does not reveal anything specific or personal about the user and cannot be traced back to them. On the other hand, individuals are given complete control of their own data and are even able to monitor its usage.

The future of precision medicine

In an age of personalised medicine, access to genetic data is a valuable commodity for medical professionals. However, if pharma and healthcare industries are to expand their use of genetic information successfully, they will need to address these ethical challenges and give individuals peace of mind. 

The best way we can achieve this is through more standardised best practices. It is important that any new regulations are balanced - preserving sensitive biological information for the individual, whilst avoiding unnecessary red tape that could stifle innovation in the field.

The ethics of precision medicine isn’t just an area of debate in theology and philosophy. It is in fact critical to the development of medical practices and their associated laws. We therefore cannot afford to ignore it if precision medicine is to take off at a global scale.