Hereditary cancer testing has changed dramatically over the past decade, reshaping how healthcare professionals diagnose and manage genetic risks. Initially, testing focused on specific genes like BRCA1 and BRCA2, linked to breast and ovarian cancers. These gene tests were quite limited, only looking at a small set of mutations in a handful of genes. But with advancements in sequencing technology and the development of pan-cancer panels, genetic testing has become much more comprehensive. As a result, more patients are now aware of their hereditary risks because these panels cover a broader range of inherited mutations including presentations of varied cancer diagnoses. In the past, the focus for clinicians was on finding mutations linked to a specific type of cancer, but that approach has its limits, and a real impact on patients and their families. By testing only a small set of genes, there is a real risk of missing important genetic information, especially since some genes can increase the risk for multiple types of cancer. For example, a gene linked to breast cancer might also raise the risk for other cancers, but that connection could be missed if the testing is too narrowly focused. 

Pan-cancer panels tackle this challenge by looking at a wider range of genes linked to different cancers. This approach not only lowers the chances of missing a diagnosis but also gives a fuller picture of a patient’s genetic risk. By including well-known genes connected to multiple common cancers, these panels provide a more thorough analysis that fits with established clinical guidelines. This broader view is especially helpful since clinicians often struggle to gather complete family histories or get accurate medical records, both of which are crucial for spotting potential hereditary risks. 

As a clinician, I know it is impossible to stay up to date on every gene-disease association. That is where the expertise of gene curation scientists comes in. Rather than focusing on specific genes to order, we can lean on experts who dedicate their time to curating and understanding these associations. By offering guideline-based pan-cancer panels to our patients, we can feel confident that we are providing comprehensive care without the risk of missing important diagnoses, ensuring our patients receive the most accurate assessment possible. 

The evolution of hereditary cancer testing towards pan-cancer panels represents a significant advancement in the field, offering more comprehensive diagnoses, personalized risk assessments, and targeted prevention and treatment strategies. As healthcare providers continue to integrate these advancements into their practice, the emphasis on comprehensive genetic information will play a crucial role in improving patient outcomes and advancing the overall standard of care in hereditary cancer testing.