Harnessing genomic data for early disease detection

Lorna Rothery spoke to Heidi Rehm, Chair of the Global Alliance for Genomics and Health, about steps to harness quality genomic data to support disease detection and the importance of collaboration in this endeavour

What role can genomic data and medicine play in supporting individuals’ health?

Genomics is just one component among many factors that determine an individual’s health. There are various impactful factors related to the environment, as well as lifestyle, such as exercise, healthy eating habits, and whether or not they smoke.

The role genomics plays can be divided into two main areas. First, it can have a significant impact on rare diseases by enabling early detection and diagnosis. As our ability to understand the underlying causes of rare diseases improves, we can better manage the care of affected individuals. Although we are still in the early stages of developing many treatments for rare diseases, there have been significant advancements in the pace of therapeutic development. Currently, most rare diseases still lack therapies, but this is rapidly changing. Even without treatment, understanding the underlying cause can be incredibly beneficial. This knowledge can help manage the disease, provide better outcomes, and improve the lives of both the individual and their family.

One in ten people has a rare disease, which is a significant number when you consider the entire population. When it comes to common diseases that affect a large portion of the population, genomics alone may not provide all the answers. However, it can help us identify individuals with genetic predispositions and higher risk, allowing us to implement more targeted and aggressive care strategies. While genetic factors play a role, managing common diseases also involves considering other factors such as diet and exercise.

Could collaborative efforts between industry and national healthcare systems accelerate access to innovative treatments?

I genuinely believe that collaborations are crucial. The key is to start collaborating early on, long before the industry develops therapeutics. In some ways, what the Global Alliance for Genomics and Health (GA4GH) is really trying to address is collaboration around data sharing and how we can work together. In order to develop treatments and approaches to manage care, we need access to patients with diagnoses, an understanding of how to track outcomes, and the ability to enable enrollment in clinical trials and access to data.

We work with healthcare organizations and countries managing large biobanks, where individuals might not come through the healthcare system but enroll as healthy individuals or part of the population at large. If we collaborate with industry to share information and gain access to patient populations, we can enhance our understanding of diseases, determine the clinical trials that should be conducted, and improve the management of outcomes. All of these efforts will ultimately lead to better and more effective approaches to caring for individuals. We want to work closely with both pharmaceutical and biotech companies that are developing drugs, but also IT companies that are developing cloud-based platforms and innovative ways to share data and exchange information in secure ways.

How could patient data be better aggregated and analyzed to inform medical decisions?

The current electronic health records are not well-designed for effectively tracking clinical information. They are primarily optimized for billing purposes, such as collecting billing codes for insurance payments. They are not optimized for tracking and monitoring the health outcomes of individuals. It is important to find ways to better capture health and outcome information in order to use that information more effectively and improve the health of patients.

The initial challenge lies in improving the quality of data. However, an equally important aspect is how to encourage healthcare institutions to agree to share this data. Healthcare systems, especially in the US and in many other countries, are experiencing significant financial strain, leading them to strategize on how to generate revenue. This has prompted healthcare systems, including biobanks, to consider selling their data to pharmaceutical companies. While this may be a tempting prospect to offset their costs, it’s crucial to find ways to fund the collection of valuable information without resorting to selling data to one or a small number of groups, which can limit wide access. One solution could be to develop a shared and secure infrastructure that reduces the cost of data collection and alleviates concerns about information security. By doing so, healthcare systems may be less inclined to seek payment for sharing data and instead view it as a mutually beneficial practice. Furthermore, by implementing secure methods to maintain privacy, healthcare systems can share data with minimized risk, ultimately reducing the financial burden on the healthcare sector. As a community, we must collaborate to devise innovative solutions that simplify the process of securely sharing data, thereby mitigating the need for substantial financial investments from healthcare systems themselves.

How do you see genomic medicine developing in the future?

We engage communities using a multi-pronged approach. Our Driver Projects operate in the genomic space and are often specific to certain countries. We collaborate closely with these projects to understand their needs in terms of standards and data sharing requirements. We engage them in our Work Streams to create standards that meet their needs. This process is cyclical; we get feedback on what’s needed, deliver standards that get piloted by the community, and then receive feedback for improvement. Essentially, it’s a continuous cycle of close collaboration with our Driver Projects and other members of the community.

In addition to our engagement with Driver Projects, which span many different domains, we have organized communities that focus on specific clinical domains, such as rare diseases, infectious diseases, cancer, neuroscience, and our most recent addition, the clinical genomics laboratory domain. This allows us to convene people who are working in similar areas of research and clinical delivery, like our clinical genomics laboratory communities. By convening these groups, we can better understand their specific needs, even if they are not directly involved in specific Driver Projects. This engagement model allows both individuals and institutions working in these clinical domains to collaborate with us effectively and address the needs of a particular area of work more effectively.

We are also making a conscious effort to collaborate more with industry and expand our partnerships. We understand that it can be challenging for industries to work together as they are often in competition with one another. However, we strive to provide a neutral platform that encourages collaboration and creates global alliances without being driven by profit motives. Our goal is to bring industry partners together to define pre-competitive initiatives that benefit society as a whole. This allows different groups to work together in a deliberate and cohesive manner, benefiting all the members and organizations involved in the process.