Bridging the Gap Between Precision Medicine and Patient Access
Experts highlight the factors that limit access to advances in precision medicine and explore ways to improve it.
The standardized protocols in healthcare systems are not designed for individualized, precision care.
This creates a gap between what we can do with science and what health systems are delivering. “Precision medicine is already transforming lives across the world, but its benefits remain out of reach for too many,” stated Sir Harpal Kumar, president of GRAIL, at the UK Galien Forum 2026.
Kumar chaired a panel discussion surrounding the promise and translation of precision medicine, anchored around sickle cell disease.
Sickle cell disease affects around 8 million people worldwide, making it one of the most significant genetic diseases. An inherited mutation in the HBB gene—which encodes beta-globin, a subunit of hemoglobin—leads to abnormal, sickle-shaped red blood cells, which can cause pain, inflammation, and other serious health complications.
Despite curative gene therapies being developed and approved, the treatments cost over a million dollars, supply is limited by manufacturing complexity, and infrastructure requirements exclude many patients. These are just some of the challenges in precision medicine.
This article explores four areas that influence how precision medicine’s genomic promise is realized into patient impact: unmet need, the state of the science, moving from science to systems, and affordability and access.
Unmet need
Professor Dame Anna Dominiczak, regius professor of medicine at the University of Glasgow, highlighted that there are clear inequalities in underserved populations even in developed countries. Based in Scotland, she gave the example of clinical trial recruitment: people from inner city, deprived populations don’t volunteer, and the same is true for people in rural populations.
This reduces the pool of people involved in clinical trials and research, perhaps introducing bias.
Dominiczak also pointed to healthcare guidelines as a potential source of unmet need.
For polygenic diseases, where genome-wide association studies have been used to create polygenic risk scores, a simple test could inform a patient about their disease risk. This could potentially encourage a patient to change their behavior or lifestyle to mitigate their risk. Yet these tests are not included in healthcare guidelines, despite being accessible online.
How we describe and monitor disease could also be contributing to unmet need. While we have detailed clinical phenotypes and intricate disease categorization, capturing disease progression has remained challenging.
“Disease is not a binary thing... It’s more of a journey,” said Dr. David Hulcoop, executive director of Open Targets at the Wellcome Sanger Institute. “We do less well in capturing different disease stages and preconditions.”
A lack of information about how diseases progress from their early stages to their ultimate outcomes makes it quite challenging to understand where unmet needs lie, he explained.
Hulcoop also addressed a different type of unmet need: patient perspective. Healthcare systems and researchers tend to be very technical and scientific when talking about disease, and may not meet the needs of patients due to a lack of understanding of their lived experiences. “We have to be more personal and sensitive to the people who are affected by disease,” Hulcoop said.
Patient input could inform how a protocol is conducted and how results are conveyed, he suggested.
When discussing sickle cell disease specifically, geographic and economic imbalances were highlighted as key sources of provision gaps, which are important to consider when developing treatments.
The state of the science
Technological advancements, including whole-genome sequencing, single-cell transcriptomics, and spatial analysis, have enabled the generation of highly granular data to help us understand disease.
“As we understand more about biology, it gets more complex,” highlighted Hulcoop. “There will be blind spots in our armor of understanding disease.”
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He flagged that we are constantly learning more about human biology, that there are tissues we can’t access, especially longitudinally, and that there are populations that we haven’t studied enough. This means that sometimes new understandings of disease can’t be acted upon.
“A precision understanding of biology doesn’t necessarily mean that an obvious precision medicine will emerge.” — Dr. David Hulcoop.
A precise understanding of biology can help researchers develop a range of therapeutic hypotheses, as directly correcting the molecular fault that causes disease is not always the best treatment. For example, in sickle cell disease, the two approved therapeutics don’t correct the underlying mutation, but instead trigger the production of functional hemoglobin to dilute the effects of sickled hemoglobin.
Well-developed pathways exist for translating biological understanding into drug targets, but these pathways are less well developed for developing new diagnostics and preventive approaches, Kumar noted.
As the focus shifts from treating disease to prevention and early detection, scientific and translational pathways, as well as business models and regulatory pathways, will need to change to support this change.
Moving from science to systems
Moving from science into systems forces questions surrounding implementation, adoption, infrastructure, and affordability.
Currently, pharma companies often focus on science and small patient populations, but bringing science-to-system considerations further upstream in the development process could streamline implementation and patient access.
Professor Julie Makani, principal investigator of the Sickle Cell Program at the Muhimbili University of Health and Allied Sciences, highlighted how her team actively included sickle cell patients in their research in Tanzania, integrating patient voices into the process. Patient input emphasized the importance of access to curative therapies. Makani reported that patients were willing to leave the country or even the continent to access these therapeutics if they weren’t available locally.
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The team therefore focused on addressing key issues raised by patients to prevent patient vulnerability to unsafe therapies.
“It’s not for us as physicians or as scientists to tell patients or the public what they want and what they don’t want,” Makani said. “It’s about having a process in place where you can have that discourse together.”
Policy is also important in moving science to systems. The right policies can support financing, investment, and infrastructure, so that when therapies are available, patient access can be streamlined.
Considering infrastructure could also shape drug development. Current sickle cell disease gene therapies require bone marrow transplants, which require complex operational systems. However, in vivo gene therapies offer a way to remove the need for bone marrow transplants, potentially enabling the delivery of interventions to more patients affected in developing countries.
During the panel discussion, Dr. Tom Lines, chief executive officer of Quercis Pharma, raised questions about the affordability, durability, and high failure rates of curative therapeutics. “Every time we see a drug fail, we ask: ‘Why did it fail?’ Maybe these drugs are failing because we’re looking at the wrong overall target,” he said. Instead of focusing on the genetic cause of sickle cell disease, Lines opined that a promising target for sickle cell drugs is the cause of sickle cell crises—coagulation.
Shifting this focus could enable the development of cheaper, more accessible drugs that, rather than curing sickle cell disease, ameliorate its effects.
Makani argued that treating sickle cell disease should not be approached in an “either/or” manner, in that, while work is ongoing on an affordable curative solution, additional efforts can focus on improving symptom management.
“We need to treat whilst we try to do better,” Dominiczak agreed. “Medicine keeps progressing, and a cure is that final holy grail for all of us. I think there will be a cure for many conditions that we don't dream of curing currently, but at the same time, we need to use current, not as wonderful medications to help people, so that the learning system keeps getting better.”
“The beauty of medicine is that it never stops, it keeps progressing.” — Prof. Dame Anna Dominiczak
Affordability and access
In the current model of drug development, newly developed medicines are initially more expensive, so they tend to be adopted by richer countries first. Once they come off patent, they become more affordable and accessible.
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For diseases like sickle cell, the majority of the disease burden is not in rich countries, which is forcing conversations around new drug development models that could enable the creation of interventions that can be applied where the burden is, sooner.
“There needs to be partnerships,” Dominiczak said. She highlighted that precision medicine projects in Scotland were more likely to be adopted when there was early engagement with industry.
Lines emphasized the importance of global collaboration and data sharing for improving sickle cell disease drug discovery. “We've got to understand what really affects people, and it can't be only patients or only physicians or drug companies or governments, it's got to be everybody,” he said.
He pointed out that collating data from sickle cell disease patient associations in different countries could be beneficial. Using the power of AI, extensive processing of global databases may help discover lower-cost, more effective drugs.
Framing sickle cell disease as a business case, rather than a moral or ethical issue, could further advance investment in research and drug discovery, Makani outlined: “If we frame it as an investment case, as a scientific case, as a systems case, I think we'd be able to get more engagement from the patients, from the public, from the policy makers, and the funders to take research forward.”
Dominiczak expanded on this, explaining that government investment in health should be viewed as a “value case” because it leads to overall economic growth.
This shift in dialogue toward viewing health as an investment rather than a cost is a cause for optimism, Kumar noted.
The discussions and lessons learned surrounding precision medicine access, delivery, targeting, and systems readiness in sickle cell disease can be extended beyond one disease and shape how the field approaches genetic disease.
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