A new observational study, led by Dr. Kelly Goldsmith and pediatric oncologists with the Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta, shows that the majority of high-risk pediatric cancer patients had a genetic alteration in their tumor which could influence how they’re treated.
The study looks at how DNA and RNA whole exome sequencing can be used as part of the treatment for pediatric patients with high-risk, newly diagnosed brain tumors that have relapsed or are refractory to treatments. This was done by utilizing GEM’s comprehensive genomic Profiling Assay.
As the team conducted their research, they developed a novel scoring system to determine the multi-dimensional impact of the sequencing results on clinical decisions made by patients, parents, and their physicians. This scoring system assigned points to different components of impact from the genetic sequencing results that influenced one of four areas:
- Targeted therapies
- Cancer predisposition
- Targeted therapy availability
- Refinement of risk satisfaction or prognosis
Based on the scoring system, the study found that more than one in 10 children (16%) with previously untreatable cancer were found to have a mutation that could be targeted with an experimental therapy and went on to receive that treatment. Eighty-five percent of patients had results with an impact for either targeted therapies, cancer predisposition, targeted therapy availability, or refinement of prognosis. Test results also helped some families understand genetic risks impacting the entire family.
The team, using a personalized precision medicine approach for each patient, sampled both tumor and germline samples from blood or saliva to determine any alterations within their tumor. a multidisciplinary team called a “molecular tumor board” made up of oncologists, cancer biologists, pathologists, molecular pathologists, cancer geneticists, genetic counselors, and bioinformaticians reviewed the sequencing reports. If the reports concluded there was an alteration and an identified drug to target it, the team evaluated the available evidence supporting that drug use and used their collective expertise to gauge the weight of the evidence before making a recommendation to the treating oncologist.
A bioinformatics pipeline also analyzed the germline sequencing data to identify mutations in cancer predisposition genes. Once all germline data was analyzed in a patient and if an alteration was found, the board recommended to the treating oncologist that the patient receive clinically certified testing to validate their findings with a referral to the Cancer Predisposition Program and a genetic counselor. Consistent with other data reported in scientific literature, 7% of patients in this study had a germline finding.
The results from the first group of patients enrolled in the study were published in the Journal of Clinical Oncology (JCO) Precision Oncology, led by first author Ryan Summers, MD, Pediatric Hematologist/Oncologist and member of the Precision Medicine Program, which aims to provide more personalized therapeutic choices to cancer patients by identifying genetic changes within a tumor cell.