Changing care for survivors of childhood cancer
The implications of this research for the future of survivorship care are profound. Currently, most follow-up protocols for childhood cancer survivors are based heavily on the "treatment summary"—a document detailing the types and doses of drugs and radiation a patient received as a child.
The St. Jude findings suggest that this approach, while necessary, is incomplete. By failing to account for genetic predisposition, clinicians may be missing a critical piece of the risk profile for many patients.
"Historically, we have paid attention to survivors’ treatment exposures when determining second cancer risk," Sapkota said. "Our study suggests that we need to better account for genetic predisposition in this population."
Integrating genetic testing into standard survivorship care could allow for a "precision medicine" approach to follow-up. For example, a survivor who received moderate doses of chemotherapy but carries a high polygenic risk score for breast or colorectal cancer might be prioritized for more frequent or earlier screenings. Conversely, understanding these risks can empower survivors to take a more active role in their own healthcare. Armed with data about their unique combination of genetic and treatment-related risks, patients can better advocate for the specific screenings they need.
The ultimate goal of the study is to reduce the mortality rate associated with the late effects of cancer treatment. As more children survive their initial diagnosis, the medical community’s responsibility shifts toward ensuring those survivors can lead long, healthy lives.
"Second cancers remain the leading cause of mortality for childhood cancer survivors," Sapkota concluded. "Now that we have quantified the contributions of treatment, genetics and lifestyle to the risk of secondary disease, we have a better understanding of where to focus efforts to prevent, detect and treat these cancers, and hopefully extend these survivors’ lives."
The study was a collaborative effort involving a wide range of experts. Achal Neupane of St. Jude served as the first author. The research also included contributions from Siddhant Taneja, Jennifer French, Matthew Ehrhardt, Tara Brinkman, Rachel Webster, Jun Yang, Kirsten Ness, Melissa Hudson, Gregory Armstrong, Leslie Robison, and Yutaka Yasui, all of St. Jude. External collaborators included Qi Liu of the University of Alberta; Cindy Im, Lucie Turcotte, and Joseph Neglia of the University of Minnesota; Monica Gramatges of the Baylor College of Medicine; Rebecca Howell of the University of Texas MD Anderson Cancer Center; and Smita Bhatia of the University of Alabama at Birmingham.
The research was supported by multiple grants from the National Cancer Institute and by ALSAC, the fundraising and awareness organization of St. Jude Children’s Research Hospital. As genomic technology becomes more accessible, the researchers hope that these findings will soon translate into clinical guidelines that offer a more personalized and protective roadmap for survivors everywhere.
