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The promise of precision medicine

Precision medicine is set to revolutionise patient care

Precision medicine is an approach to patient care that enables doctors and pharmacists to select the treatments or preventative strategies that are most likely to help their patients based on the individuals’ phenotypes and genotypes – in other words, their genetic make-up.

It holds great promise because it can give medical practitioners access to more specific information about their patients and provide them with the capacity to tailor their recommendations accordingly.

We’ve already made big advances in precision medicine research, and it is increasingly being integrated into mainstream healthcare.

The All of Us programme in the United States, for instance, casts a wide net and seeks to combine DNA samples, electronic health record (EHR) data, information from wearables and survey responses from one million people.

It has a particular focus on previously understudied groups within the population, such as ethnic minorities, women and older individuals. Since enrolment began in 2018, the programme has reached about a quarter of its hoped-for participants and has helped researchers learn how biology, lifestyle and environment affect health.

In Qatar, we’re prioritising precision medicine as part of our national strategy to deliver world-class future healthcare. Qatar Biobank was set up with the support of Qatar Foundation in 2012 and has been conducting a large population-based cohort study.

The Biobank’s broad data sets already cover deep phenotyping and whole genome sequencing from 20,000 individuals, and the Qatar Genome Programme plans to sequence complete genomes of an additional 75,000 native Qataris.

With 75-80% of the genetic information in the global genomics databases coming from people of European or Caucasian descent, these ambitious population-based genomics projects will not only be of benefit to future generations of Qataris, but also for the 400 million Arabs who live across the world.

The Qatar Genome Programme and the Qatar National Research Fund (QNRF) have also developed a research funding programme for precision medicine and recently supported a research initiative to promote drug selection based on genomic data and deliver personalised therapies for the Qatari population.

Progress in rare diseases and oncology

The two areas where we’ve seen the most progress with precision medicine so far are in the fields of rare diseases and oncology.

Conditions classified as rare diseases affect a relatively small percentage of people in the world. The fact that cases are so few and far between means that they can be both difficult to diagnose in patients and hard to treat.

Patients often have to wait half a decade to get an accurate diagnosis and, even then, may require the care of experts or specialist health centres that can’t be found locally. Precision medicine is making great strides with reducing the waiting time for diagnosis, however, allowing people to get the care they need much sooner.

In oncology, significant progress has been documented on the treatment side. The most promising results seen to date show that genetic information has helped boost the survival rates of those suffering from advanced non-small-cell lung cancer by four to five times.

Delivery barriers

Precision medicine holds huge potential, but we still have a long way to go before we’ll see it integrated into healthcare around the world.

One of the challenges that needs to be tackled as a priority is proving the value of precision medicine. It has the potential to be more cost- effective in the long term. Treating people when they are unwell is expensive – and with an ageing population at hand, future healthcare systems are likely to be put under even more pressure.

The preventative approach to well-being that is promoted through precision medicine offers people the promise of not only living longer, but also living a healthier life.

However, the value of precision medicine is still too often implicit, and we need clinicians and the scientific community to produce hard evidence that it is cost-effective. This will be central to swaying sceptics and encouraging governments and healthcare organisations to invest in implementing precision medicine at scale.

If we are able to overcome this first hurdle, we must also address a skills shortage. Currently, we do not have enough clinical geneticists, genetics counsellors or pharmacists who are versed in genomic data usage to integrate precision medicine fully into healthcare systems.

A significant effort will be required from health industry bodies, governments and medical schools to train workers so that they can perform the tasks that will be needed to fully exploit the use of precision medicine.

At Hamad Bin Khalifa University in Doha, Qatar, this task is already in hand. The New College of Life Sciences focuses mainly on educating the next generation of healthcare professionals in precision medicine and preventative interventions. We hope to have trained around 700 precision medicine professionals within the next five years.

COVID-19 has taught medical professionals around the world the importance of translating research into patient well-being – quickly and efficiently. This is especially important in precision medicine, where research and understanding are constantly evolving.

Our hope is that more recently qualified doctors and clinician scientists, who have a clearer focus on the latest developments, will help spearhead the transition of innovative research into applicable medical outcomes.

There are also significant data and technology issues that we need to overcome. We have already captured vast amounts of genomic data. The issue is that this data was most often collected as part of siloed projects and isn’t fully accessible and usable at scale.

Health systems will need to work with technology companies to find the best solutions for gathering the disparate information already captured and turning it into user-friendly tools that clinicians can use on a day-to-day basis.

Due to the vast amounts of data required, AI is expected to play a major role in this. It is also absolutely crucial that this data is fully secured.

New fields of research

If we can overcome the barriers to implementing precision medicine, it has the potential to shape lives in many ways. Teams around the world are conducting research in various relevant disease areas.

In Qatar, research into genomics and precision medicine is being used to tackle diseases such as obesity, diabetes and cardiovascular disease. Diabetes is a particularly complex disease, which involves more than one gene type, and is therefore an area where the use of personalised medicine could help healthcare professionals diagnose more targeted treatment.

The world- class Sidra Medicine hospital and the Qatar Biomedical Research Institute are using genomes to identify personalised lifestyle interventions to tackle obesity. This could have an especially positive impact in paediatric obesity, where early intervention can improve outcomes.

Another fertile area of research is the application of precision medicine to Autism Spectrum Disorders (ASD). There is currently no effective medical treatment for ASD, however, Qatar Biomedical Research Institute’s Neurological Group has been surveying the genomes of individuals with autism and their family members to identify potential targeted treatments.

The future of pharma

Drug metabolism rates vary between patients. Some patients metabolise a drug so rapidly that therapeutically effective blood and tissue concentrations are not reached; in others, metabolism may be so slow that usual doses have toxic effects.

Individual drug metabolism rates are influenced by genetic factors, which means that if clinicians have a better understanding of a patient’s genetic make-up, they could prescribe the right amount of the right drug treatment for the individual.

This not only gives patients the confidence that they are receiving the most effective level of care, but could also save the healthcare system money through more specific and effective care in the long term.

A new initiative that looks specifically at this area – which is known as pharmacogenomics – based on how genomics can be used to optimise drug selection and usage, is currently being developed in Qatar.

Meanwhile, clinicians in the United States have been increasingly using genomic insights to inform their decisions on prescriptions. We will hopefully see this becoming more widespread there and elsewhere around the world as the relevant infrastructure is put in place.

Getting it right

We are on the cusp of a new era when it comes to medicine. The broader integration of precision medicine into healthcare beyond specific genomic applications will happen, but it will require a supporting infrastructure, the right skills, investment – and most importantly – buy-in from patients and stakeholders.

We are still in the early stages, but the future offers great promise.

Richard O’Kennedy (pictured) is VP for Research, Development and Innovation at Qatar Foundation and the VP for Research at Hamad Bin Khalifa University

22nd February 2021

Richard O’Kennedy (pictured) is VP for Research, Development and Innovation at Qatar Foundation and the VP for Research at Hamad Bin Khalifa University

22nd February 2021

From: Research



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