Nowadays, we are facing an era of social diffusion of information – any material can reach a large number of people in less than a minute.

Precision medicine demands that individuals contribute their medical histories and genomes to big data research pools, and fundamentally, the science works only if the numbers are very large. Understandably, a major concern of the increased use of precision medicine is therefore patient privacy. An essential requirement of personalised medicine will be that individuals have minimal risk of their personal data being exposed.

The biggest challenge to data privacy is the fact that there are no absolutes – every individual perceives privacy differently, and that perception also changes over time and in response to different circumstances.

As precision medicine research relies on large quantities of data, which can be stored long term, it also may not be possible to anticipate all future uses of data and information. It should be considered whether it is necessary for researchers to go back to participants whenever their data or specimens are used, or if permissions should be granted by participants on a more open-ended basis? While in theory it might be ideal for individuals to make these decisions on a case-by-case basis, this would require detailed project-specific consent which is not always feasible or desirable.

Another key challenge of databank research is that it can produce additional findings that are not directly related to the research question being asked but that may have clinical significance. These are findings concerning an individual that have potential health or reproductive importance, and are discovered during testing for an unrelated problem. They are known as ‘incidental findings’.

Communicating medically actionable additional findings in genetic testing is generally accepted practice today. That said, accidental findings raise numerous ethical questions for practitioners. Which findings should they communicate? And should communicating them be mandatory or optional?

While informing participants of such findings might enable them to respond more rapidly or even before symptoms arise, perhaps the even more challenging question is: what should be done if new information is found that points to increased risk of a condition or disease, specifically if there is no treatment? We need to bear in mind also that the significance of findings is not always clear, and incorrect findings have the potential to lead to unrequired healthcare expenses and, even if correct, we must consider the probable psychological issues. Is it better to know that one is at increased risk of developing a disease, or is ignorance indeed bliss?

As it stands, there is no legal duty to share additional research findings with patients, and re-contacting is considered a shared responsibility of the clinician, clinical laboratory and other HCPs.
Genetic sequencing warrants an informed consent process for at least two reasons: the familial nature of genetic information and the possibility of discovering an incorrect finding. It is essential that the policy of an organisation and the consent form are clear on the return of results. The return of research results is in many ways similar to the return of results in clinical genetics, but magnified by the additional complexity and potential uncertainty of the results.

Clinicians should discuss the possibility that any type of genetic testing may yield additional findings and should discuss in advance of testing whether the patients (or their families) wants to be informed of such findings.

As precision medicine becomes more established as a field, and as greater numbers of diagnostic tools and treatments based on precision medicine become available, equality will become a significant issue at both the individual and population levels.
Disparities in treatment and outcomes continue to be reported across gender, ethnicity, socioeconomic status, educational background, disability status and other patient characteristics. As precision medicine becomes a mainstream form of healthcare, practices need to be put in place to prevent individuals being discriminated against based on their genetic make-up.

Without this protection, we could otherwise find that individuals who are discovered to be at risk of certain diseases, or carriers of deleterious genetic variants, could for instance find themselves vulnerable to discrimination by others, such as insurers who may want to increase the cost of or restrict access to the insurance products they offer, or employers looking to employ talent that they consider to be ‘healthy’.

In recent years, there have been growing calls to restrict life insurers’ access to genetic test information. This is based on the grounds that genetic discrimination may discourage people from participating in both genetic testing and genetic research. This is an area that needs further specific studies and legislation.

Here in Qatar and with other communities around the world, we also see another challenge, concerning religion.

As it stands, there is a limited amount of data available in genomic databanks that relates to certain ethnic communities, and religion is one of the contributing factors to this.

In the Islamic faith, there is an area of knowledge called the ‘unknown’. Questions have been raised as to whether precision medicine would fall into this category, and as a result, in the past, we have seen some reluctance from Arab communities to engage with it. More recently, with Islamic scholars focusing on the topic of precision medicine, and engaging more in the conversation, views are starting to shift and encourage some of the potential benefits.

As precision medicine gets incorporated into mainstream healthcare, we need to further explore concerns like these and establish ways to ensure we can bring the benefits of precision medicine to all while also still respecting their religious beliefs.

If the challenges facing precision medicine are properly addressed, we can expect to see significant near-future advances in a number of healthcare fields. The ability of precision medicine to make earlier diagnoses could have a huge impact on the treatment of not only cancer, but also degenerative disorders like Alzheimer’s and Parkinson’s. The quicker health professionals can spot the disease, the earlier they can start dealing with it.

However, greater regulation of these technologies and standardisation of best practice is vital to ensure that sensitive biological information about individuals is not misused.

The regulations and standards introduced must be balanced against the risk of stifling innovation and access to these technologies, which offer substantial benefits for patients. As such, it is essential that governments adopt a proactive approach to lawmaking in this area.

The ethics of precision medicine are not something we can afford to overlook or ignore. With many hurdles to overcome, there remains some hard work to be done before we are truly ready for precision medicine on a global scale.

Said Ismail is Director of Qatar Genome Programme