Why Faster Genomic Testing Could Change Cancer Care

Getting the right treatment for cancer often depends on understanding the unique genetic changes driving a person's disease. Comprehensive genomic profiling (CGP), also known as genomic testing, can help identify these changes and match patients with targeted therapies or clinical trials. However, traditional testing often requires samples to be sent to outside laboratories, delaying results by weeks. New advances in rapid, in-house next-generation sequencing (NGS) are helping shorten that wait and could make precision medicine more accessible, especially in community hospitals. In this Q&A, Tomomi Yajima, MD, PhD, deputy director of Sapporo Doto Hospital and chairman of Sapporo Female Clinic, discusses how rapid in-house genomic testing works, the barriers preventing wider adoption and why faster access to genomic information could improve cancer care for patients.

Cure: Can you walk us through how your rapid, in-house NGS process works compared to the traditional send-out model and what that difference looks like in practice for a patient?

Yajima: In the conventional send-out model, both formalin-fixed paraffin-embedded (FFPE) and liquid biopsy samples are sent to external reference laboratories for comprehensive genomic profiling (CGP). This process involves sample transportation, laboratory processing, sequencing, bioinformatic analysis, and report generation, often resulting in turnaround times of several weeks.

In contrast, the entire in-house workflow is performed within our community hospital. For both FFPE and liquid biopsy samples, every step—from specimen preparation and nucleic acid extraction to automated next-generation sequencing, bioinformatic analysis, and clinical interpretation—is integrated into a single in-house process. For liquid biopsy samples, bringing the process in-house means that we are able to complete CGP in approximately 27 hours.

For patients with recurrent cancer, rapid next-generation sequencing (NGS) with liquid biopsy samples is particularly valuable because time is often critical. Earlier access to genomic results provides an opportunity to consider treatment options without unnecessary delay.

What were the most surprising findings from your research around gaps in genomic testing access?

One of the most surprising findings was how dependent genomic testing in Japan still is on overseas laboratories. Although samples are collected in Japan, many CGP tests are ultimately performed outside the country. After the results are returned, they are reviewed by an institutional expert panel before they can be incorporated into clinical decision-making. This multi-step process inevitably prolongs the turnaround time.

Even more surprising was how practical the in-house workflow became once we implemented an automated platform. Based on my previous experience with conventional NGS platforms, I had expected the workflow to be technically demanding and labor-intensive. Instead, Thermo Fisher’s automated Ion Torrent Genexus™ System integrated virtually the entire process—from nucleic acid purification through sequencing—with very little hands-on intervention.

Another unexpected advantage was the availability of a commercial genomic reporting service. After variant calling was completed by the Genexus platform, the variant data could be submitted for a structured report summarizing therapeutic evidence, relevant clinical trials, and current treatment guidelines. This made genomic findings much easier to interpret in routine clinical practice.

What types of cancers or patient populations are benefiting most from these advancements right now?

One of the major advantages of rapid NGS is that it can be applied across a wide range of malignancies.

Among these, lung cancer and breast cancer currently benefit the most because multiple molecularly targeted therapies are already available in routine clinical practice. We are also seeing rapid advances in hematologic malignancies, where genomic profiling is increasingly being used for diagnosis, treatment selection, and measurable residual disease (MRD) monitoring.

From a patient perspective, patients with recurrent or advanced cancers, rare cancers, and cancers of unknown primary are among those who benefit the most. In these settings, genomic profiling may provide clinically meaningful information when conventional treatment options are limited.

Community oncology centers treat the majority of cancer patients in the U.S. What are the biggest barriers stopping them from adopting rapid genomic testing?

I don't think the biggest barrier is the technology itself. In my opinion, the greatest barrier is the lack of awareness of its availability and applications. Many clinicians and hospital administrators are simply unaware that highly automated platforms capable of rapid genomic testing are now available for routine clinical practice. Instead, many still think of genomic testing as a technically demanding, labor-intensive process based on conventional NGS workflows.

In fact, if we were talking about conventional NGS platforms, I would completely understand that hesitation. Those workflows are complex, labor-intensive, and difficult to sustain as part of routine clinical practice.

But highly automated platforms have fundamentally changed this. By integrating the entire workflow, rapid genomic testing is much more practical for community hospitals than many healthcare professionals realize.

Of course, reimbursement, initial investment, and the limited availability of genomically matched therapies remain important challenges. That said, I still believe the greatest obstacle today is that many healthcare professionals are simply unaware of how the technology has evolved and how effective it can be. Once they see what current automated platforms can actually do, I think many of the perceived barriers will become much smaller.

Can you share a patient case even anonymized where rapid NGS directly changed the course of treatment or outcome?

Not yet, at least not directly, but I believe that reflects the current stage of precision oncology rather than a limitation of rapid genomic testing.

Cancer is fundamentally a disease of the genome. Even when genomic findings do not immediately change treatment, they help us understand why a cancer develops and how it behaves. And this understanding is sought after by physicians and patients, alike.

As precision oncology continues to evolve, I believe this knowledge will increasingly lead to new treatment strategies, including personalized cancer vaccines and other next-generation therapies.

What needs to change policy, funding, infrastructure to close the gap and make this accessible to more patients faster?

To close this gap and make precision oncology accessible to more patients faster, we need changes in all three areas: policy, funding, and infrastructure.

Policy: CGP should no longer be reserved for patients who have exhausted standard treatment options. It should become part of routine cancer care when treatment decisions are being made.

Funding: We also need to reduce the cost of genomic testing and establish reimbursement systems that support its routine clinical use.

Infrastructure: We need to rethink the infrastructure. Conventional genomic testing has relied on specialized molecular laboratories or large centralized testing facilities. With highly automated platforms, routine genomic testing can be performed in community hospital laboratories under the supervision of a physician with a foundational understanding of genomic medicine. This approach can substantially narrow the gap between academic centers and community hospitals.

Ultimately, every patient with cancer should have timely access to genomic information as a routine part of cancer care.

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