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‘The possibilities of precision medicine are undoubtedly compelling’


By Rachel Carter

26 Jan 2021

Precision medicine has the potential to transform healthcare. It could give us a much deeper understanding of the genetic makeup of individuals and help us move towards more accurate diagnoses and treatments. But where are we on this journey? Dr Said Ismail, director of the Qatar Genome Programme, discusses.

The state of play today

Precision medicine is essentially an emerging approach that uses medical modelling from individuals’ phenotypes and genotypes to tailor disease treatment and prevention.

Its potential lies in enabling medical practitioners to access and evaluate more specific information about their patients, so that they can recommend the right therapeutics strategies to the right person and identify predispositions to health issues.

This might sound like a futuristic approach to medicine, but it is already being applied to real life scenarios. In the UK, the 100,000 Genomes Project collected data from NHS patients with cancer and rare diseases, and from family members, to gain insights into specific conditions. Some participants have already felt the impact, thanks to earlier and more accurate diagnoses and/or more effective treatments tailored for them.

Oncology is one of the best areas where impactful advances are being made in precision medicine. Success has been documented in the treatment of tumours such as breast cancer and non-small-cell lung cancer. Survival rates for the latter (while still low) have increased four to five times for those diagnosed as late as stage IV, thanks to better genetic insights.

There has also been rapid progress in rare disease – a term that refers to between 6,000 and 7,000 conditions that affect very few people – due to the fact that the vast majority of rare diseases are genetic conditions. The greatest impact has been getting an earlier diagnosis, thus considerably speeding up the otherwise lengthy process often referred to as the “Diagnostic Odyssey” (which can typically take around five years).

The challenges of delivering precision medicine

While there is understandable excitement about the promise of precision medicine, there are also some significant challenges that have to be overcome if it is to reach its full potential.

For a start, most health information systems were not designed for precision medicine and the genomic data that is already available to health professionals has been tucked away in hard-to-use repositories. The long-term success of precision medicine will depend greatly on health systems’ ability to store and access large amounts of data, and on making existing data usable.

Improvement of data analytics is also urgently needed. Precision medicine requires complex levels of data analysis that health practitioners simply cannot conduct with the current infrastructure.

Leveraging AI would help the health sector to rapidly identify links between the attributes of patients and the outcomes of medical interventions, and alert clinicians when the data they have for a patient indicates a specific health implication.

There is also a huge task on the side of medical schools and health systems in developing the relevant expertise. For example, we will specifically need to train up more clinical geneticists and genetics counsellors to implement precision medicine at scale. We will also need to prepare the next generation of pharmacists to be at the forefront of integrating pharmacogenomics – which uses genomic data to indicate how a given drug will affect an individual – within the healthcare system.    

Before all this can happen, however, there’s a need to prove the value of precision medicine to decision makers. We currently need to accumulate more hard evidence that precision medicine provides improved outcomes in cost-effective ways – which governments and other stakeholders will require to accelerate investments in precision medicine. At Qatar Foundation Research, Development and Innovation for example, the investments started a while back, and the return on such investments is soon to be realised.

The future of precision medicine

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 huge impact for 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.

Another exciting application is identifying pathogens more effectively. NHS England, for example, is using Whole-Genome Sequencing to test bacteria in new cases of tuberculosis, to determine drug resistance. This practice has reduced the testing turnaround time by six weeks, enabling quicker prescriptions.

There are also early signs of progress in pharmacogenomics. Already, roughly 20 genes have been identified as having a clinically relevant impact on over 80 medications. One study has indicated using genomic data could also help with patient adherence.

Clinicians in the United States are increasingly checking genetic markers before prescribing and there have been various pilot projects in North America and Australia, but the practice has not yet become widespread. The future role of pharmacists could extend to dealing with complex clinical decisions supported by IT solutions that would help in drug prescription based on the patient’s genetic data.

The possibilities of precision medicine are undoubtedly compelling: allowing healthcare professionals to deliver the right intervention, to the right person, at the right time. Achieving this would mean that patients receive better treatments, health systems become more effective and populations live healthier lives. With many hurdles to overcome, however, there remains some hard work before this becomes a reality.


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