January 3, 2024 | To kick off the New Year, we spoke with leaders and experts in the Diagnostic World community about their insights and predictions for 2024. The community expects transformations and innovation in the coming year, especially that AI will support diagnostic development. “In 2024, we are poised to reach the slope of enlightenment on the hype cycle curve for AI-based diagnostics development,” predicts Niven R. Narain of BPGBio.
Machine learning is also expected to provide better aid and efficiency in diagnostic processes. “In the coming year, I anticipate we’ll see more advancements in [ML algorithms’] use for early-stage detection of cancer. Moreover, with the growing efficacy of machine learning algorithms, I foresee the identification of relationships among liquid biopsy markers, enhancing the sensitivity of these innovative assays,” said Courtney Noah of BioIVT.
These technological advancements also extend to genome sequencing. Through improved sequencing development, researchers and physicians will be able to diagnose diseases before they are even confirmed, thanks to new tools and technologies. “I foresee newborn screening (NBS) will be a game changer in 2024. Expanded NBS systems will usher in a new era of large-scale correlations between screened healthy and unhealthy individuals. It will produce even more genome sequencing data from which we can draw meaningful and potentially surprising correlations to diagnose patients earlier and match them to the most appropriate treatments,” said Mark Kiel of Genomenon.
Here are the full trends and predictions, including more information on AI and machine learning advancements, technologies for early disease detection, genetic screening to help aid in treatment and therapy options, and creating more personalized treatments for patients everywhere. –the Editors
Craig Monell, PhD, Senior Vice President, Business Operations Cellular Multiomics Advances Shaping Life Sciences and Diagnostics, BioLegend (Part of Revvity)
The coming year promises to be a transformative one for the life sciences, with cellular multiomics taking a leading role in helping to advance our understanding of cellular composition and function, and potentially revolutionizing clinical diagnostics: In the rapidly evolving field of cellular multiomics, we can anticipate significant breakthroughs that will shape the future of life sciences. Cellular profiling assays are transitioning from traditional reliance on a limited set of markers within a singular molecular class to newer high-plex, high-cell number multiomics assays. These assays target a combination of RNA, proteins, DNA, and various other marker types, and they are deepening our understanding of cellular composition and function. We can expect this very active applications development area to deliver significant advances in assays including expanded marker numbers and diversity; increased numbers of cells interrogation; streamlined workflows; enhanced resolution in spatial analysis; and reductions in the cost per cell or marker analyzed. These improvements will make multiomics technologies more accessible and drive their adoption. Additionally, AI/ML-driven informatics will simplify the interpretation of complex multiomics datasets, making it easier to extract meaningful insights from vast amounts of data. While researchers in the highly competitive life sciences arena are rapidly making progress, we can also expect to see CROs and life science tool providers working diligently to standardize specific assays. This standardization is a crucial step toward incorporating these technologies into clinical trials and eventually deploying multiomic signature-based diagnostics and companion diagnostics.
Courtney Noah, Ph.D., VP, Scientific Affairs, BioIVT
Advancements in the field of liquid biopsy research have the potential to revolutionize the way we detect, diagnose, and treat diseases: Initial applications of this technology have focused on utilizing it as a diagnostic tool to enhance medication regimens. In the coming year, I anticipate we’ll see more advancements in their use for early-stage detection of cancer. Moreover, with the growing efficacy of machine learning algorithms, I foresee the identification of relationships among liquid biopsy markers, enhancing the sensitivity of these innovative assays.
Niven R. Narain, Ph.D., President and CEO, BPGBio
In 2024, we are poised to reach the slope of enlightenment on the hype cycle curve for AI-based diagnostics development: Although the industry has been quick to capitalize on the power and sophistication of new AI platforms, those that are successful in this category know that a biology-first approach, supported by purpose-built AI, is the best path forward. This next year, I expect we will see more AI-developed diagnostics reach late-stage clinical trials and possibly move to commercialization as more clinical data surfaces to validate this approach.
Stephanie Franco, PhD, Senior Scientific Affairs Liaison, EUROIMMUN (Part of Revvity)
Blood-based biomarkers and genetic screening will gain traction as complementary to disease modifying therapies (DMTs) for patients with early-stage Alzheimer’s Disease: With the excitement surrounding the FDA approval of Leqembi and pending approval of donanemab (anti-amyloid treatments for Alzheimer’s disease (AD)), we see further clinical investigations into blood-based biomarkers (BBBMs) and genetic screening as imperative to furthering improvements in AD diagnosis and treatments. It has been demonstrated that APOE e4 carriers are at a higher risk for developing amyloid related imaging abnormalities (ARIA) when undergoing anti-amyloid treatments, such as Leqembi and donanemab. Thus, it has been recommended in the Leqembi instructions for use to perform APOE genetic screening prior to treatment, which suggests this genetic screen could become a requirement for treatment. Furthermore, several new and existing biomarkers in plasma (e.g p-tau-217) are being investigated as having value in accurate diagnosis and treatments which are more economically friendly, easily accessible and less invasive than CSF draws and PET screens. We also see further investigations into combination therapies with targets other than amyloid to help reduce cognitive decline in patients with mild to moderate AD. Further exploration of BBBMs and APOE genetic testing are surely to be pivotal in the next chapters of AD diagnosis and treatments.
Mark Kiel, MD, PhD, Chief Scientific Officer and Vice President of Product Strategy, Genomenon
Clinical diagnostics: Now that we can reliably diagnose extant disease through genome sequencing and variant interpretation, our next challenge will be to accurately predict disease before it is apparent or confirmable. I foresee newborn screening (NBS) will be a game changer in 2024. Expanded NBS systems will usher in a new era of large-scale correlations between screened healthy and unhealthy individuals. It will produce even more genome sequencing data from which we can draw meaningful and potentially surprising correlations to diagnose patients earlier and match them to the most appropriate treatments.
A year ago, long-read sequencing was named “Method of the Year” by Nature Methods: In the time since, researchers using this technology have begun to leverage the high-throughput capabilities of the PacBio Revio sequencing system to scale use of the highly accurate HiFi sequencing technology to understand the breadth of human genetic variation in a more robust way to consider new clinical use cases for these tools. Enabled by the lower price per genome possible with the PacBio Revio system, we expect 2024 to bring further progress in accelerating the utility of long-read human genome datasets resulting from efforts like the Consortium for Long Read Sequencing (CoLoRS). We also expect to see additional clinical labs consider new ways to implement these technologies into lab-developed tests, building on the work of pioneers like Children’s Mercy Kansas City, that recently launched a long-read sequencing-based first line clinical test for rare disease diagnosis and the work of consortia like HiFiSolves, which is focused on accelerating the clinical use of HiFi sequence data. Finally, innovation across multi-omics disciplines is another trend we expect will accelerate in 2024 – our Onso sequencing system has set a new standard in sequencing data quality at Q40+. We've also brought customers a full-length RNA solution, and we expect to bring more innovations to the market in 2024.
Chuck Drucker, Vice President of Strategy and Corporate Development, Q2 Solutions
Patient-centric diagnostic testing: The ability for a phlebotomist to visit a patient at home to collect a specimen has been increasing in use, especially since COVID-19. Taking decentralized solutions even further, recent advancements allowing for patients to collect their own specimen with an at-home collection device is continuing to gain traction. For example, in November 2023, FDA granted marketing authorization of the first diagnostic test for chlamydia and gonorrhea with at-home sample collection. Looking ahead, innovators will continue to work on lay-person-use devices for at-home lab collection and even at-home test results that go beyond the many COVID-19 tests and pregnancy tests on the market.
Ruth Brignall, PhD, Global Scientific Affairs Manager, Revvity
The eradication of Tuberculosis (TB) stands as a paramount objective in the global healthcare landscape: Despite being a preventable and curable disease, TB continues to claim the lives of millions each year, largely impacting low and middle-income nations. Access to diagnostics and treatment is crucial for eliminating TB. Early and accurate diagnosis enables timely treatment initiation and prevents further transmission. Affordable and effective treatment ensures patients complete therapy, reducing drug-resistant strains. This comprehensive approach is vital in the fight against TB. Current diagnostic tests for active TB rely on microbiological confirmation of TB bacteria from sputum samples, or visual signs of TB in the lung observed on a chest X-ray. As a result, around 36% of new TB cases, who do not have pulmonary TB or cannot produce a sputum sample, go undiagnosed or unreported. The main challenge lies in the absence of non-sputum based diagnostics. Developing accurate non-sputum based tests is crucial to diagnose individuals suffering with active TB who cannot produce sputum. In 2024, we expect the development of innovative TB diagnostics, like non-sputum-based diagnostics, to begin addressing unmet needs within the TB space. We also anticipate that we will see improved access to existing tests for better coverage where needed the most.
Greg Wujek, Global Life Sciences Industry Consultant, SAS
LLMs give an assist with patient communications and updating pharma protocols: Large language models (LLMs) will be tapped to generate clear and concise summaries of complex medical information, making it easier for patients to understand their diagnoses and treatment plans. Also, LLMs will emerge that can be used to create and update pharma protocols, ensuring that they are up to date with the latest scientific evidence.