Diagnostics innovation: overlooked for too long

It’s been 13 years since the term “precision medicine” was coined, and its promise — the ability to treat the right patient with the right medicine in the right dose at the right time — remains as compelling as ever.

But we haven’t yet fulfilled this promise. Why?

In my previous role as head of precision medicine at Novartis, I realized the biggest challenge to making precision medicine a reality was not the development of the medicines themselves, but the development — or lack thereof — of the necessary diagnostics.

Precision diagnostics are essential for guiding physicians to the right treatment. The more precise the medicine, the more precise the diagnostic technologies must be to pinpoint the patients who will benefit.

If you think of precision medicine as a highly specialized instrument, it will only ever be as good as its calibration. Yet across the industry diagnostics are in the shadow of therapeutics, receiving less attention for the patient impact they deliver, less funding for development, less reimbursement, and comparatively less revenue — despite their ability to lower overall costs by delivering treatments more effectively. As a result, the field lags. I’ve seen numerous promising drug development projects shelved because there wasn’t a biomarker or an accessible, reproducible assay that could differentiate patient subtypes to be included into or excluded from the clinical trial. When it comes to emerging therapeutic modalities like antibody-drug conjugates (ADCs) and common, heterogeneous diseases, the challenge is even greater.

ADCs have immense potential as cancer treatments, but cancer is a highly genetically diverse disease. Because ADCs carry toxic payloads, diagnostics need to ensure that patients express the proteins targeted by these drugs at sufficient levels in the cancer cells and not in their healthy cells.

Outside of cancer, precision medicine is even less established, though the unmet needs may be just as great. Neurodegenerative diseases such as Alzheimer’s Disease, or multiple sclerosis require early diagnosis and intervention, yet in early stages the proteins associated with these diseases are present in the blood at exceedingly low levels. As a third example, the development of drugs to treat metabolic dysfunction-associated steatotic liver disease (MASLD) has been slow, in part because existing diagnostics require a liver biopsy and have low reproducibility.

In all of these diseases, a large number of therapies are in clinical development; what we lack are approved and available diagnostic assays to help accelerate and de-risk the therapeutic pipeline and improve standards of care.

The root cause of this problem is the fractured ecosystem in which diagnostics development takes place. Academics, translational and early discovery departments have the samples and insights into potential biomarkers, but they don’t have the funding or ability to develop, scale, and deploy diagnostics.

Meanwhile, during late-stage drug development the focus is often on the medicines, whilst diagnostic development gets outsourced. Transferring assays to multiple partners during drug development is inefficient. Contract research organizations and diagnostics startups can develop tests, but they often struggle to scale tests or deploy them into clinical labs around the world. Larger diagnostics companies like Cepheid, Leica Biosystems, and Beckman Coulter (all Danaher Corporation operating companies) have the experience and the technical possibilities to scale and help elevate global adoption of tests — but they don’t have access to the early research and patient samples to develop new tests alone.

In my discussions with academic and medical experts, biopharma companies, diagnostics innovators, and most importantly, patients, everyone acknowledges this issue. But so far solutions are few, and most are too small in scope to address the core problem.

What I believe is needed is a new, holistic, collaborative approach that brings academia, early discovery and development in pharma, and diagnostics together to maximize their unique capabilities while minimizing time-consuming assay format transfers and contracts. The solution needs to be end to end, spanning every step from biomarker validation to global deployment, scientific education, and clinical adoption. These collaborations should enable multiple testing modalities (genomic, proteomic, and tissue-based), prioritize reproducibility, and responsibly leverage bioinformatics and AI to allow for the creation of complex, multi-analyte assays. And we need to work with a sense of urgency and responsibility to patients — many of whom don’t have time to wait.

While such novel partnerships can catalyze the development of meaningful diagnostics and bring us significantly closer to realizing the potential of precision medicine, there are also challenges that must be overcome. Exchange of intellectual property, data as well as outlining the sharing of risk and gain need to be mapped and defined. In my experience, developing these mutually beneficial agreements was essential in bringing groups together. By formalizing how we — and most critically, the patients — all benefit from working in unison we can create an ecosystem where we can share information, streamline processes, reduce format transfers, and I believe, increase success rates and excel innovation.

In the next stage of my career, I am focusing on building and championing an effort to overcome the limitations of the fractured ecosystem and catalyze diagnostics innovation — two centers for enabling precision medicine, the second of which recently opened in San Diego — that will bring technologies such as immunohistochemistry, polymerase chain reaction, and immunoassay and allow for target identification, de-risking, proof-of-concept and scale all under one roof. But this work has only just begun. To fully realize this opportunity, all of us — across the biomedical innovation ecosystem, from diagnostics to therapeutics and beyond — must work together.

Amit Agrawal, Ph.D., is the Chief Scientific Officer of DH Diagnostics LLC, a subsidiary of Danaher Corporation.