The power of predictive genomics

Predictive genomics provides the power to transform healthcare globally, explains Kim Caple

The year 2023 marks the 70th anniversary of the discovery of the DNA double helix and the 20th anniversary of the completion of the Human Genome Project. These scientific moments in history mark progress toward a lofty goal: the ability to, one day, deliver personalised, preventative healthcare to everyone, everywhere. Although that vision may seem far off, research teams around the world are making incredible progress leading real-world predictive genomics projects that have the power to transform healthcare globally by enabling a shift from reactive to pre-emptive care.

Making risk prediction actionable

One of the primary goals of predictive genomics is to assess an individual’s risk of disease and help guide decisions to keep that person healthier for longer. When asked the value of determining disease risk when a cure or management guidelines may not be available, Dr. Richard Pither, CEO of UK-based Cytox, says there are multiple benefits. Cytox develops genetic risk assessments for Alzheimer’s disease (AD). Although there is no widely available cure for AD at the moment, there are more than 150 drugs in clinical trials – meaning testing today could provide information to guide treatment tomorrow. But even before these therapies come to market, individuals and their clinicians can use risk prediction assessments to guide lifestyle changes that may help reduce or even prevent the onset of disease.

Disease risk prediction is becoming increasingly accurate as researchers continue to shed light on the wide range of biomarkers associated with complex diseases and use this data to develop polygenic risk scores (PRS) that can assess risk across millions of genetic markers. Thanks to Cytox and other leaders in this space, clinicians are now starting to adopt PRS in clinical practice. Currently, Cytox partners with clinics across the UK, Europe, Canada and the USA to help patients understand their risk of developing AD. The company is also assessing the utility of its tests in diverse populations in the hopes of expanding access to other countries around the world in the future.

Bringing predictive genomics to population scale

Another important use for predictive genomics is working toward enabling more precise therapy prescribing. Pharmacogenomics (PGx) testing is most often used at the point of care to ensure a patient is given the right dose of the right drug, helping avoid trial-and-error prescribing of less effective drugs and preventing potentially dangerous side effects and drug interactions. Healthcare providers deploy PGx testing today as part of the standard of care for certain disease conditions, but there is also a case to be made for implementing broad pre-emptive testing to help improve patient outcomes at population scale by making PGx information available in patients’ medical records before they need medications.

Investigating the future of PGx

One leader in population-scale PGx research is the Pittsburgh-based Pharmacogenomics Center of Excellence, a unique academic-industry partnership combining University of Pittsburgh’s academic medical research prowess with genomic testing solutions and expertise from Thermo Fisher Scientific. The Center of Excellence has set an ambitious goal of pre-emptively testing 150,000 individuals to help demonstrate the economic utility of widescale, panel-based testing.

Dr Philip Empey, associate professor of pharmacy and therapeutics at the University of Pittsburgh and associate director of the University of Pittsburgh/UPMC Institute for Precision Medicine, believes we will first see pre-emptive testing offered in discrete settings – in patients at-risk for poor medication outcomes or as an incentive for employer health programs, for example – but eventually he envisions a future where testing is available for all patients. “Testing will become more ubiquitous as costs come down and it becomes easier for us to deploy the data we learn from those tests,” he says. “Our goal is to show improvement in clinical outcomes and economic feasibility that makes sense in the [UPMC] delivery system. If we can prove it here, we can disseminate that knowledge to others.”

Taking genetic research global

Although groups continue to make tremendous progress advancing predictive genomics research, the benefits of precision medicine will not be spread equally without more diverse datasets. Lack of inclusivity has long plagued genetic research; a staggering 96% of genome-wide association studies (GWAS) have been of people of European descent. Fortunately, this is changing as groups around the world launch their own studies to accelerate genomic research and, eventually, bring predictive genomics to clinical use for more people.

As one example, last year a partnership with the Qatar Genome Program to develop a custom genotyping array for pan-Arab populations was announced. This is a continuation of earlier collaboration with the research team to develop the Q-Chip, the first microarray designed specifically for the Qatari  population. Now, following early discovery work using whole genome sequencing to identify biomarkers of interest based on samples voluntarily collected from 19 Arab countries, the research team is developing a cost-effective, microarray technology-based solution to drive scientific research and insights into conditions including diabetes, cardiovascular and metabolic diseases, autism, inherited genetic disorders and cancer. The team hopes to enable future large genome wide studies with the goal of expanding the benefits of precision medicine across Arab populations.

A future of preventative healthcare around the world

Although science has come a long way, as with any big, transformative shift – especially in an industry as complex, fragmented and heavily regulated as healthcare – we must overcome a host of hurdles to encourage the continued rise of predictive genomics around the world. By supporting research studies at scale, Thermo Fisher Scientific is arming its partners with the data they need to correlate improved outcomes with interventions based on genetic information. As evidence of the clinical and economic utility of predictive genomics grows, wider adoption will follow. Looking at global progress, from the mid-Atlantic to the Middle East, the future is bright. The research projects underway today will usher in a new standard of care with healthcare providers routinely using patients’ genetic information to predict disease risk and improve treatment decision making with the goal of helping people live longer, healthier lives.

Kim Caple is president of Genetic Analysis at Thermo Fisher Scientific.


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