Advanced molecular diagnostics are fundamentally transforming patient outcomes. Historically, diagnosis and treatment relied on the location and stage of the tumour. Now, increasingly sophisticated approaches allow healthcare professionals to understand cancer in much greater depth, enabling the selection of personalized treatments that target specific biological pathways. This detailed understanding can improve effectiveness and reduce the chance of severe side effects.

• BRCA Mutation Testing: The medical benefit of knowing BRCA status has increased steadily since its discovery 30 years ago. Professor Pujol discusses how BRCA mutations, which affect about one in 200 individuals, are vital not only for prevention but also for personalized treatments using PARP inhibitors across breast, ovarian, prostate, and pancreas cancers. ASCO guidelines now propose testing any woman with breast cancer under 65, any man with breast cancer, and every woman with ovarian cancer.

• Tissue-Agnostic Therapies and Trial Design: Progress in defining molecular alterations shows that frequent or rare alterations (like gene fusions or MSI) can be present across cancers regardless of their site of origin. This requires researchers to think beyond the primary tumour site. The podcast delves into novel clinical trial designs, such as basket trials and synthetic control arms, developed to rapidly test genetic mutation-drug matches across multiple cancer types.

• Biomarkers in Immunotherapy: We explore the role of Micro Satellite Instability (MSI) as a predictive biomarker for sensitivity to immunotherapies. While the FDA granted immune checkpoint inhibitor the first tissue agnostic approval for MSI-high/dMMR solid tumours, the pan-European (EMA) and national regulatory landscapes show variation in approval and access.

• The Power of NGS and Liquid Biopsies: Next-Generation Sequencing (NGS) is considered the standard of care for lung cancer, where over 10 alterations are targetable. NGS is widely seen as more cost-effective than sequential testing methods. Furthermore, liquid biopsies are becoming a highly promising tool for monitoring resistance, identifying minimal residual disease, and even moving towards early detection and screening.

Despite these incredible medical advances, complex regulatory and reimbursement pathways in European countries are slowing the availability of new technologies and contributing to inequalities in cancer outcomes. The discussion highlights the urgent need for policymakers to act in five key priority areas to ensure health systems are ready to adopt advanced diagnostics and achieve better testing and better treatment for all people with cancer.

Ready to learn how we can move from under-considering diagnostics to making them a priority? Download the full episode, "

Targeted therapies in cancer: From clinic to labs

" to hear the full discussion on these vital issues.

Isabelle Bedrosian et al. Germline Testing in Patients With Breast Cancer: ASCO–Society of Surgical Oncology Guideline. J Clin Oncol 42, 584-604(2024). 

Casak SJ, Marcus L, Fashoyin-Aje L, Mushti SL, Cheng J, Shen YL, Pierce WF, Her L, Goldberg KB, Theoret MR, Kluetz PG, Pazdur R, Lemery SJ. FDA Approval Summary: Pembrolizumab for the First-line Treatment of Patients with MSI-H/dMMR Advanced Unresectable or Metastatic Colorectal Carcinoma. Clin Cancer Res. 2021 Sep 1;27(17):4680-4684.

We're bringing back a must-listen episode of the Diaceutics podcast series

. Diaceutics is committed to enabling better testing and better treatment, placing labs at the centre of this mission.

In this lively discussion, we feature two leading experts: 

 (CEO of the Comprehensive Regional Cancer Institute Centre Jean PERRIN, France, and Deputy President, UNICANCER) and 

 (Head of Cancer Genetics department at the University Hospital of Montpellier, France, and President of the French Society of Predictive and Personalized Medicine). They explore the challenges and opportunities in implementing targeted therapies in cancer, specifically from a European point of view.

An oncogenic fusion is a hybrid gene formed when a portion of one gene fuses with a portion of another, often resulting from structural variants such as translocations or inversions at the DNA level. This leads to a chimeric, aberrant protein.

In lung cancer, these fusions are often the "driver mutation" of the tumour. Identifying these drivers is crucial because effective, targeted treatments exist for fusions such as ALK, ROS1, and RET. Dr. Saxena emphasises that if testing isn't performed, patients miss out on these treatments. For example, studies on ALK-targeted therapy in metastatic lung cancer showed that after five years, the median progression-free survival had not yet been reached, highlighting the amazing, life-changing responses possible if the fusion is detected.

It is standard practice to test for these fusions in virtually all patients with non-small cell lung cancer (NSCLC), particularly those with stage four or metastatic disease, or those with lung adenocarcinomas, as effective therapies are available.

The discussion highlights the diverse methodologies available for detection. While low-throughput methods like Immunohistochemistry (IHC) and Fluorescent In Situ Hybridization (FISH) are used, more comprehensive approaches are becoming standard.

• IHC is widely available and provides fast results, which can be useful for quickly informing decisions (such as what not to give, like immunotherapy in ALK-positive patients). However, IHC is generally better used as a screening tool for many fusions (except ALK) and requires confirmatory testing.

• Sequencing methods offer higher throughput. DNA-based sequencing can be challenging because fusion breakpoints often occur in large intronic regions that are difficult to cover.

• RNA sequencing is highly recommended and often utilized, as it sequences the expressed RNA transcripts after the intronic regions have been spliced out. This method demonstrates a clear benefit: a highly cited study by Reema K. Benayed et al.

, found that performing RNA sequencing detected a previously undetected driver alteration in up to approximately 14% of cases that were DNA sequencing negative.

Comprehensive panels often include both DNA and RNA sequencing simultaneously to maximize detection capability. Dr. Solomon notes that comprehensive sequencing helps detect rare and novel fusions.

The clinical relevance of testing necessitates clear and rapid communication between the lab and the treating physician. Turnaround time (TAT) is constantly being optimized as it is crucial for patient management.

To facilitate treatment decisions, reports must be clear and concise. Oncologists, like Dr. Saxena, appreciate reports that prioritize FDA-approved or known relevant mutations upfront. Both experts agreed that having descriptive blurbs that provide context and knowledge about the specific mutation (e.g., efficacy data or clinical trial status) is very useful, rather than just positive/negative listings. Pathologists often rely on vast knowledge bases (like 

) to ensure accuracy and relevance when drafting these interpretations.

Molecular pathology is rapidly changing. Although common fusions (ALK, ROS1) are well-established, newer fusions like NTRK and NRG1 are seen in very small percentages of cases (less than 1% to 2%).

 Dr. Solomon believes that increased, comprehensive RNA sequencing on more tumours will lead to the recognition of additional targetable fusions.

Ultimately, better testing enables better treatment.

Listen to the full episode of the Diaceutics 

Solomon BJ, Liu G, Felip E, Mok TSK, Soo RA, Mazieres J, Shaw AT, de Marinis F, Goto Y, Wu YL, Kim DW, Martini JF, Messina R, Paolini J, Polli A, Thomaidou D, Toffalorio F, Bauer TM. Lorlatinib Versus Crizotinib in Patients With Advanced 

-Positive Non-Small Cell Lung Cancer: 5-Year Outcomes From the Phase III CROWN Study. J Clin Oncol. 2024 Oct 10;42(29):3400-3409.

Benayed R, Offin M, Mullaney K, Sukhadia P, Rios K, Desmeules P, Ptashkin R, Won H, Chang J, Halpenny D, Schram AM, Rudin CM, Hyman DM, Arcila ME, Berger MF, Zehir A, Kris MG, Drilon A, Ladanyi M. High Yield of RNA Sequencing for Targetable Kinase Fusions in Lung Adenocarcinomas with No Mitogenic Driver Alteration Detected by DNA Sequencing and Low Tumor Mutation Burden. Clin Cancer Res. 2019 Aug 1;25(15):4712-4722.

O’Haire, S., Franchini, F., Kang, YJ. et al. Systematic review of NTRK 1/2/3 fusion prevalence pan-cancer and across solid tumours. Sci Rep 13, 4116 (2023).

Sushma Jonna; Rebecca A. Feldman; Jeffrey Swensen; Zoran Gatalica; Wolfgang M. Korn; Hossein Borghaei; Patrick C. Ma; Jorge J. Nieva; Alexander I. Spira; Ari M. Vanderwalde; Antoinette J. Wozniak; Edward S. Kim; Stephen V. Liu. Detection of NRG1 Gene Fusions in Solid Tumors. Clin Cancer Res (2019) 25 (16): 4966–4972.

We are re-promoting the insightful fifth episode of the Diaceutics "Better Testing, Better Treatment" podcast series: "

Oncogenic Fusion Detection and Reporting in NSCLC and solid tumors: from clinic to lab

In this highly important episode, we hear from 

, Assistant Professor of Pathology and Laboratory Medicine at Weill Cornell Medicine, and 

, Assistant Professor of Medicine at Weill Cornell Medical College, as they discuss the practical considerations for oncogenic fusion detection and reporting.

The episode explores the vital connection between pathologists and oncologists, a partnership central to Diaceutics' mission of enabling better testing and better treatment. Dr. Park and Dr. Talwalkar emphasize that this collaboration is critical in the field of precision medicine. Pathologists are described as the "detectives of the medical world," unravelling disease mysteries through microscopic examination, while oncologists are the "warriors on the front lines," using those discoveries to design lifesaving treatments.

A powerful case study highlighted how their close working relationship—facilitated by quick communication via text or secure chat—changed a patient’s treatment course. When Dr. Park needed HER2 IHC 3+ testing for a patient with stage 4 bladder cancer to qualify them for an FDA-approved pan-tumour treatment, Dr. Talwalkar was able to prioritize the IHC assay, providing results in 24 to 48 hours, unlike mutation analysis which can take days or weeks.

Optimising Testing and Navigating Barriers

The experts discuss key strategies for optimising diagnostics and tissue procurement. For instance, in bladder cancer, they implemented an FGFR reflex testing protocol for newly diagnosed, eligible patients, ensuring results are automatically ordered by the pathologist signing out the case. This expedites patient care by having results available when the oncologist sees the patient.

The panel also addressed the challenges in the field, noting that insufficient tissue remains a significant barrier to optimum patient care. Historic tissue, often used for diagnosis, may have DNA that is damaged or denatured by the time new testing is required.

Looking ahead, Dr. Park and Dr. Talwalkar discuss how innovation will strengthen their relationship. They agree that the biggest change for pathologists will be the digitalization of glass slides, coupled with the deployment of AI to improve diagnosis and turnaround time. AI can already be used for tasks such as Gleason scoring and complex data analysis for immunotherapy purposes.

However, the rise of molecular diagnostics will lead to reports containing more information, such as NGS reports with 30 or 40 actionable mutations. This flood of data will necessitate even stronger communication between pathologists and oncologists to determine the true driver mutation and predict clinical benefit.

At the heart of the conversation is the understanding that communication is the key to improving patient survival and care.

The Pathology-Oncology Connection: Labs in Action

Did you miss Episode 8 of the Better Testing, Better Treatment podcast series, titled "The Pathology-Oncology Connection: Labs in Action"?

 leads a lively discussion with two critical voices in the fight against cancer: 

, a Genito urinary medical oncologist and Co-director of GU cancer clinical trials at the Norton Cancer Institute, and 

, a hematopathologist and molecular pathologist at CPA Lab, Norton Healthcare.


That’s where DXRX comes in. More than just a platform, DXRX offers a gateway to growth by providing lab technicians with access to high-quality educational resources, peer collaboration, and real-world insights that help them stay ahead in a rapidly evolving field.

Enhance your professional skills and earn CPD credits from our LabTalks, tailored to boost technical expertise and career progression.

Share insights with our global network of labs and learn from real-world testing practices

Keep up to date with evolving lab techniques, regulatory standards, and best practices through curated industry newsletters

Whether it's mastering biomarker testing or understanding the latest innovations in precision medicine, DXRX empowers technicians to build confidence, expand their expertise, and take their careers to the next level.

Take a moment to search through DXRX and our resources on blood cancer.

LabTalks

In the dynamic world of haemato-oncology, lab technicians are the steady hands behind every test result. From preparing blood samples to running complex diagnostic assays, they play a crucial role in supporting accurate diagnoses and guiding treatment decisions for patients with blood cancers. Yet, despite their importance, technicians often face limited access to structured learning pathways and career development opportunities.

Lab directors' leadership is critical in the field of blood cancers. They oversee complex workflows, ensure regulatory compliance, and foster collaboration across departments. But with increasing demands and rapid technological change, lab directors need more than expertise; they need support.

DXRX: A Platform for Innovation and Collaboration

DXRX is designed to meet the evolving needs of lab leaders. It’s a collaborative platform that connects labs with biopharma, technology providers, and peers to accelerate diagnostic development and implementation.

Stay ahead of the curve with biomarker dashboards to inform and benchmark your lab’s performance against industry standards. 

Sign up to view dashboards

Gain strategic insights from LabTalk sessions covering the latest in emerging biomarkers, evolving testing algorithms, clinical guideline updates, and regulatory frameworks like IVDR and LDTs. 

Chronic Myeloid Leukemia  the essential role of molecular testing as a guide to diagnosis and treatment

Build your network and share expertise through our collaborative community, while keeping your team informed with curated education and the latest industry developments. 

Sign up to view collaborations

Lab directors are the driving force behind accurate, timely, and innovative blood cancer diagnostics. With platforms like DXRX, they’re not just keeping pace—they’re leading the way. This month, we celebrate their leadership, their impact, and their unwavering commitment to better patient care.

Explore the campaign and discover how DXRX is powering the future of diagnostics.

Blood Cancer Awareness Month is a time to honour the people who make life-saving diagnostics possible. At the heart of this effort are lab directors, visionary leaders who guide teams, implement cutting-edge technologies, and ensure the highest standards of testing.

Yet, with increasing diagnostic complexity and mounting pressure on lab resources, pathologists face significant challenges in delivering consistent, high-quality care. These challenges are where DXRX can be utilised, offering a collaborative platform designed to support pathologists with real-time clinical decision tools, streamlined workflows, and access to a global network of expertise.

Benefits of a DXRX membership for a Pathologist:

Access a rich library of white papers to support diagnostic accuracy and innovation in your practice. 

IVDR Updates

Collaborate through peer-reviewed ring studies to benchmark your performance against peers and identify areas of improvement 

Sign up to view our Collaborations

Stay engaged with the latest research and expert perspectives through our podcast series, designed to bring cutting-edge science and case discussions directly to you. 

Listen now

As the demands on haemato-oncology labs continue to grow, pathologist’s expertise in interpreting diagnostic data, guiding treatment decisions, and collaborating across clinical teams is central to delivering precision medicine in blood cancer care. DXRX offers not only a collaborative space that supports clinical decision making, but also bridges the gaps between data, diagnostics, and decision-making, empowering pathologists to deliver faster and more accurate care.

Join us this Blood Cancer Awareness month in celebrating the ‘Team behind the testing’. Shining a light on the laboratory professionals who are the foundation of diagnosis and treatment, working in the background to drive the success of precision medicine in blood cancer.

In the fast-evolving landscape of haemato-oncology, pathologists are a central part within the laboratory team who work tirelessly to ensure accurate diagnosis, guide targeted therapies and collaborate with other stakeholders to guarantee optimal, co-ordinated care. Their role is more critical than ever, as precision medicine demands deeper insights and faster turnaround times.

Insights

Unlock the Future of Cancer Treatment: Targeted Therapies from a European Perspective

Oncogenic Fusion Detection - Bridging the Gap from Clinic to Lab

The Pathology-Oncology Connection: Labs in Action – Why This Dynamic Partnership Drives Precision Medicine

Building Expertise in the Lab: DXRX and the Evolving Role of Technicians in Haemato-Oncology

Leadership in Blood Cancer Diagnostics: How DXRX empowers Lab Directors to innovate and lead.

Elevating Pathology in Blood Cancer Care: The DXRX Advantage in Collaborative Diagnostics