Although screening methods such as mammography are essential for detecting breast cancer early, accurate pathologic diagnosis is equally important and may benefit from a second opinion. This can be particularly challenging for laboratories without access to breast pathology subspecialists. Here, Saira Shah, Managing and Medical Director of Anatomic Pathology at Quest Diagnostics, discusses gaps in breast cancer diagnostics and the practical steps laboratories can take to build digital consultation networks.
What are the biggest challenges in diagnosing breast cancer today?
Modern breast pathology extends beyond identifying malignancy. In my view, one of the greatest diagnostic challenges is distinguishing lesions with overlapping morphologic features. Not every abnormal finding is cancer, and some cancers can closely resemble benign conditions. Classifying borderline lesions, assigning an accurate grade, and assessing biomarkers can all directly influence treatment decisions. Artificial intelligence may support this work, but laboratories still need pathologists with specific expertise in breast pathology.
Other challenges, which are not limited to breast cancer, include staffing shortages, particularly for advanced assays. Laboratories must ensure that more professionals are trained and encouraged to enter this field. Robust upskilling programs, sufficient clinical scale, and competitive working conditions can help leading laboratories bridge this gap.
How well do current screening and diagnostic methods work, and where are the biggest gaps?
Breast cancer screening and diagnostic methods, including mammography, ultrasound, magnetic resonance imaging, image-guided biopsy, and biomarker testing, are effective when used appropriately. However, gaps remain in evaluating lesions that fall into the “gray zone” between normal tissue and more concerning findings. Detection can be particularly difficult in patients with dense breast tissue, which reduces the sensitivity of mammography and may make abnormalities less conspicuous on imaging. Once tissue is sampled, dedicated breast pathology expertise is important for recognizing subtle morphologic features and interpreting predictive biomarkers that can influence treatment decisions.
How can pathologists, laboratories, and physicians work together more effectively to improve diagnosis?
No single specialist can manage every aspect of breast cancer diagnosis and care. Delivering a high standard requires close collaboration among radiologists, breast pathologists, laboratory professionals, surgeons, and oncologists. Technology investments, including efficient electronic medical record systems, can support this coordination and streamline clinical workflows.
What role can digital pathology play in improving breast cancer diagnosis, and why is more investment required?
At Quest, we believe digital pathology can improve patient care by connecting expertise across geographic boundaries. Not every hospital or pathology practice has a dedicated breast pathologist, and some of the most challenging breast lesions benefit from subspecialty review that may only be feasible digitally. This approach can also extend pathology expertise to underserved and remote communities, giving more patients access to a consistent standard of diagnostic care.
Speed is another benefit. Transporting specimens to the reviewing pathologist – and then referring them to a subspecialist – can add time to the diagnostic process. Digital pathology enables rapid slide sharing and collaboration without the logistical constraints of transporting glass slides. This can help complex cases be reviewed more efficiently and support radiologic-pathologic correlation.
Digital pathology may also offer pathologists greater workplace flexibility. With experienced pathologists retiring, the ability to review cases remotely could help retain specialists in the workforce and attract more professionals to the field.
Finally, digital pathology combined with artificial intelligence may provide further insights into tissue patterns and potential breast cancer biomarkers. As these technologies develop, they could support more precise diagnosis and contribute to personalized treatment decisions.
Recent research links breast cancers associated with microglandular adenosis (MGA) to inherited changes in homologous recombination deficiency (HRD) genes. What do these findings mean for pathologists?
The association between BRCA1 and HRD warrants further study. However, microglandular adenosis alone is not currently considered an indication for BRCA1 or HRD testing. Genetic counseling may be considered in rare cases of microglandular adenosis-associated carcinoma, particularly invasive carcinomas with a triple-negative phenotype, although only a small number of cases have been reported.
This association also illustrates the value of expert breast pathology review in identifying rare lesions. Such findings may help reveal underlying molecular alterations, improve understanding of tumor biology, and inform future personalized approaches to care.
How do you see molecular and genomic testing changing the way breast cancer is diagnosed?
The future of breast cancer diagnostics will not center on pathology versus molecular testing, but on how insights from both can inform patient care. At Quest, we combine genomic testing options, which can provide predictive information about chemotherapy benefit and prognostic information about recurrence risk after diagnosis, with a comprehensive immunohistochemistry companion diagnostic menu.
HER2 biology illustrates the value of this integrated approach. Recognition of HER2-low and emerging HER2-ultralow categories has expanded the role of HER2 testing and immunohistochemistry in treatment selection. Technologies such as next-generation sequencing and liquid biopsy are also being evaluated for applications including minimal residual disease detection. As testing guidelines evolve, integrating molecular findings with traditional pathology may support more precise breast cancer diagnosis and characterization across the continuum of care.
What practical changes could laboratories make today to improve breast cancer diagnosis?
Laboratories should remain current with the College of American Pathologists’ latest Cancer Protocol updates, including revisions aligned with World Health Organization guidance. These include updates to protocols for ductal carcinoma in situ and invasive breast carcinoma in biopsy and resection specimens.
Laboratories can strengthen diagnostic quality by standardizing specimen handling, validating immunohistochemistry assays, maintaining robust quality-assurance programs, and recruiting professionals with relevant subspecialty expertise. Broadly, the future of breast cancer diagnosis rests on three areas: people, processes, and technology. Sustained attention to each is needed to deliver high-quality results and support coordinated patient care.
Looking ahead, what advances in breast cancer diagnostics are you most excited about?
Breast cancer diagnostics continue to evolve, particularly in digital pathology and artificial intelligence. Digital platforms can support workflow efficiency and quality while connecting specialists across institutions and geographic locations. Precision pathology, including comprehensive genomic profiling and targeted genotyping, is also playing a growing role in treatment selection. At the same time, ongoing updates to the WHO classification of breast tumors reflect efforts to refine disease characterization and support more personalized clinical decisions.
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