A Look at the Status of Precision Diagnostic Techniques in Otolaryngology

Within a decade, otolaryngologists may use liquid biopsies to diagnose and guide the treatment of head and neck cancer, chronic rhinosinusitis, Ménière’s disease, sensorineural hearing loss, and other afflictions of the ear, nose, and throat. 

Already, scientists and clinicians are exploring the diagnostic possibilities contained within blood, saliva, perilymphatic fluid, and fluid from surgical drains. Blood tests that claim to offer early detection of up to 50 different kinds of cancer are already commercially available, as are blood tests that detect HPV-driven oropharyngeal cancer. Ongoing work to detect biomarkers in nasal mucus is occurring in parallel with the development of biologic agents and may eventually lead to endotypic diagnosis, rathethan phenotypic diagnosis, of sinus pathology. And a recently published “human atlas of the cochlea,” a molecular fingerprint of perilymphatic fluid of the inner ear, “could accelerate our way to a modern, molecular-based, and targeted approach for diagnosing and treating inner ear diseases,” according to the authors of the analysis (Front Cell Dev Biol. 2022;10:847157).

None of these diagnostic techniques are ready for widespread clinical use yet, however. “The use of these types of diagnostics is still not considered mainstream,” said Benjamin Bleier, MD, associate professor of otolaryngology–head and neck surgery at Harvard Medical School in Boston and the Claire and John Bertucci Chair in Otolaryngology–Head and Neck Surgery at Massachusetts Eye and Ear in Boston.

Yet work is progressing quickly. “The liquid biopsy landscape is changing every day,” said Jose Zevallos, MD, MPH, the Eugene N. Myers Professor and chair of the department of otolaryngology at the University of Pittsburgh and founder of Droplet Biosciences, a molecular diagnostics company based in Cambridge, Mass.

Here’s a look at the status of precision diagnostic techniques in various subspecialties within otolaryngology.

Head and Neck Cancer

Liquid biopsies are already being used to manage oropharyngeal cancer. NavDx is a commercially available blood test that can detect fragments of tumor tissue-modified human papilloma virus (TTMV) DNA and therefore aid in the detection of HPV-16–positive oropharynx cancer. According to Naveris, the Waltham, Mass.-based company that developed NavDx, the test can be used to “optimize clinical management across the care continuum,” and physicians in some places are currently using it (and similar blood tests developed by others) to assess response to treatment, identify molecular residual disease post-treatment, and aid cancer surveillance after treatment.

“There’s a lot of discussion about how to incorporate the test into the standard of care,” said Steven Chang, MD, vicechair of the department of otolaryngology–head and neck surgery at Henry Ford Health in Detroit. “What most institutions are doing right now is primarily using the tests for surveillance purposes, but each with slightly differing protocols.”