Research and the Future of Clinical Diagnostics

In early 2023, Cytiva surveyed 175 members of the diagnostics industry to learn how they think the industry will develop in the next few years. The people surveyed included a mix of senior and junior employees across various roles, company sizes, and diagnostic application areas. The following are some of the questions and responses of interest to those working in clinical diagnostics.

What changes do you see in terms of where diagnostic testing happens?

Survey respondents expect to see an increase in decentralized testing such as tests for use in pharmacies, public areas (i.e., cruise ships), remote locations, and at home.

These responses suggest that researchers in clinical settings may consider collaborating with industry kit developers to find ways to simplify diagnostic tests to make them accessible to people with less training or who do not have access to tools found in clinical labs.

In the near future, what types of tests may promote earlier detection and disease prevention?

Respondents expect detection markers and liquid biopsies to lead to earlier detection of cancer, easier monitoring of treatment response, and the ability to identify drug resistance sooner.

Liquid biopsy can be sampled from a diverse range of fluids. Due to ease of collection, liquid biopsy provides alternative approaches for cancer diagnosis and care. Most tests work by analyzing a specific biomarker—circulating tumor DNA. Released when a tumor cell dies, cell-free DNA is a valuable tool for cancer detection and monitoring.

Liquid biopsy tests can be repeated to monitor progress during therapy. Liquid biopsy might allow earlier detection of disease progression, revealing changes before they are observable by conventional imaging approaches. Furthermore, these biopsies may help advance personalized medicine.

Which platforms are becoming more important?

Currently, qPCR, ELISA-based testing, and next-generation sequencing (NGS) are ranked as the top platforms within the survey sample. Work in these areas is expected to increase, along with droplet digital PCR, flow-through testing, third-generation sequencing, and microarrays.

These anticipated changes align with molecular and genetic testing platforms playing an increasingly important role in clinical diagnostics. While the pandemic accelerated this shift, its applications expand far beyond infectious disease diagnosis to improved characterization of cancer, inherited conditions, and more.

Use of NGS is growing in oncology and treatment of complex and infectious diseases. Clinical scientists can use NGS assays for diagnosis or for decisions on treatment. As treatments become more personalized, there’s a need for classifying cancers in terms of their underlying mutations to help direct treatment options in the clinic.

Also known as long-read sequencing, third-generation sequencing (3GS) is a method of sequencing DNA without prior fragmentation or amplification. NGS technologies can’t answer some questions, especially when the target genomic region has complex rearrangements or repetitive regions. In these cases, 3GS is a viable alternative. With the availability of portable sequencers, the possibilities for clinical applications are continually expanding.

What are the key ways that the diagnostics industry is positively affecting patient outcomes?

Early diagnosis and detection remain a priority for the industry, with capabilities likely to be enhanced by new technologies, platform development, and artificial intelligence.

Advances in precision medicine—powered by assays—are moving medicine away from trial-and-error treatments toward targeted prescribing. The benefits of getting the right therapy to the right patient the first time include

• earlier disease management,
• limited disease progression, and
• reduced costs.

Working together, clinical scientists, diagnostics researchers, and kit developers can realize these benefits and help patients and their doctors worldwide.