Photo Credit: Veronika Oliinyk

A study on patients with young-onset colorectal cancer revealed that only 31% underwent genetic testing, with completion rates higher among those who underwent chemotherapy and had a family history of cancer.

The following is a summary of “Deficiencies in germline genetic testing in young-onset colorectal cancer patients,” published in the January 2024 issue of Surgery by Ficarino et al.

In this retrospective study spanning from 2014 to 2021, focusing on young-onset colorectal cancer (YO-CRC) patients aged 50 years or younger receiving comprehensive cancer care at a singular institution, researchers sought to elucidate the factors influencing the completion of germline multigene panel testing, a critical component in the identification of pathologic genetic variants. 

Among the 100 YO-CRC patients analyzed, 31% successfully underwent genetic testing. Interestingly, the completion rates were not contingent upon the colorectal cancer stage; however, a notable association emerged with patients who underwent chemotherapy, exhibiting a significantly higher testing completion percentage (39.8% vs. 5.9%; p = 0.01). Furthermore, a discernible correlation was observed between an increased likelihood of testing completion and a growing number of relatives harboring a family history of cancer (p < 0.01). These findings underscore a noteworthy deficiency, revealing that only one-third of YO-CRC patients underwent genetic testing, signaling a potential gap in access or awareness. Notably, individuals who consulted with oncology specialists or had an augmented family history of cancer were more inclined to complete genetic testing, emphasizing the pivotal role of medical guidance and familial predisposition in shaping testing outcomes. 

This study provides valuable insights into the determinants of genetic testing completion among YO-CRC patients, shedding light on areas for improvement in ensuring comprehensive and accessible genetic assessments for this population.

Source: sciencedirect.com/science/article/abs/pii/S0002961024000254