The availability of a new therapy is often the primary driver for diagnostic adoption. For Lynch syndrome, many at-risk individuals don't get tested because there's no preventative treatment. Newscom believes its therapy will create a strong incentive for genetic testing, mirroring how checkpoint inhibitors drove a 5x increase in MSI screening.

Shifting from clinician-ordered to pathologist-initiated reflex testing for NSCLC biomarkers combines diagnosis and molecular analysis into one workflow. This operational change minimizes delays, increases testing rates, and optimizes the use of small biopsy samples, getting actionable results to oncologists faster.

To reduce treatment delays, pathologists should initiate biomarker testing reflexively. Waiting for a medical oncologist to order tests at a first visit is a system failure, wasting critical time and risking the need to retrieve archived samples.

NCCN guidelines recommend genetic testing for a large portion of men with prostate cancer, but there are too few genetic counselors to meet demand. This systemic bottleneck forces oncologists and urologists to manage pre-test consenting and test ordering, referring only mutation-positive cases for specialized post-test counseling.

Treating genetic testing as a "magic" or specialized service reserved for counselors has caused a 30-year disservice to patients. This fear and hesitation has led to an estimated 38,000 missed opportunities annually to identify hereditary risk, resulting in larger cancers, harsher treatments, and more deaths.

Clinicians increasingly perform Next-Generation Sequencing (NGS) on initial diagnostic tissue, even if results don't alter first-line treatment. This proactive approach identifies stable mutations like PIK3CA early, enabling long-term planning, such as optimizing a patient's metabolic health in anticipation of future targeted therapies.

When the FDA approves a new biomarker-linked therapy, an in-house pathology lab actively queries its historical database of all prior NGS tests to identify past cases with the relevant genetic alteration. They then proactively contact the oncologists for these patients, uncovering new treatment options that were previously unavailable.

Dr. Wander notes a strong clinical correlation: a BRCA mutation found on a somatic NGS test with a ~30-60% allelic frequency is very likely germline. However, this cannot replace a dedicated, CLIA-approved germline test for formal diagnosis and family counseling. This distinction is crucial for patient management and has genetic implications for relatives.

When an oncologist anticipates an initial sample (e.g., cytology) will likely have insufficient tissue for NGS testing, they proactively initiate a biopsy of a second site with interventional radiology. This parallel-path approach avoids waiting for the first test to fail, significantly reducing time to diagnosis and treatment.