Historically considered "heresy," re-biopsy in pancreatic cancer is now an everyday practice. Initial samples often yield insufficient tissue for comprehensive genomic analysis, making subsequent biopsies of metastatic sites necessary to guide precision treatment.

Due to a shortage of genetic counselors and patient access issues, the traditional referral workflow is being inverted. Oncologists now frequently order genetic tests themselves and then refer patients with positive findings to a counselor. This pragmatic shift ensures testing isn't missed due to scheduling delays or patient travel burdens.

Because PTEN loss is an early, truncal mutation in prostate cancer, clinicians should perform NGS testing on the first day a patient is seen. This proactive approach ensures that crucial biomarker information is not lost and is available to guide future treatment decisions, such as the use of an AKT inhibitor, should the disease progress.

Oncologists co-order tissue and liquid biopsies for new pancreatic cancer patients. This is crucial because tissue samples are insufficient for genomic testing in roughly 20% of cases, making the liquid biopsy an essential backup for treatment planning.

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.

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.

Recent trial data shows that patients with somatic BRCA1/2 mutations (found only in the tumor, not inherited) can achieve significant responses to PARP inhibitors. This finding supports routine tumor genomic testing to identify more candidates for this targeted therapy beyond just those with germline mutations.

Testing for PI3K/AKT alterations at the initial diagnosis of metastatic disease, rather than waiting for progression, provides a crucial window of time. This allows clinicians to implement proactive dietary and medical strategies to mitigate future side effects like hyperglycemia before the targeted therapy is even started.

Unlike cancers where testing is selective, it's a universal standard for ovarian cancer. This impacts not only family members through cascade testing but also directly informs the patient's treatment plan, particularly with PARP inhibitors.