Researchers at St. Jude Children’s Hospital have shown that full genome testing of all pediatric cancers sufferers is both possible and necessary for taking advantage of precise medicine’s saving promise. The findings of the St. Jude Genomes for Children research were published in the journal Cancer Discovery nowadays.
The 309 participants who registered in the research were given full genomic & full exome genetic DNA analysis. For the 253 individuals with sufficient tumor specimens, whole-genome, whole-exome, and RNA decoding of tumor DNA are performed.
The data was analyzed by experts in the field. The research carried out on patients of different ages leads to some encouraging results that can bring new hope to the patients struggling against this menace.
Medical Replication Opens The Door To Precision Medication
At minimum one medically relevant change in tumor or germ DNA was found in 86 percent of individuals. Variations in diagnostic, outcome treatment and cancer propensity were among them. According to the scientists, one out of every five individuals had medically significant alterations that could have remained undiscovered using traditional sequenced techniques.
“Some of the most clinically relevant findings were only possible because the study combined whole-genome sequencing with whole-exome and RNA sequencing,” said Jinghui Zhang, Ph.D., St. Jude Department of Computational Biology chair and co-corresponding author of the study. Every tumor is different. Each patient is distinct.
Medical reading that encompasses the entire genome, the entire exome, and the entire RNA sequence is not generally accessible. Complete sequenced, however, will be a vital adjunct to pediatric cancer treatment as the technique is less costly and increasingly available to many children, according to experts.
“We aim to transform the field’s thinking,” said David Wheeler, Ph.D., director of the St. Jude Precision Genomics team and a research co-author. “We demonstrated the value of using genetic data at the patient level.” Even in common pediatric malignancies, each tumor and patient is distinct.
“This study showed the feasibility of identifying tumor vulnerabilities and learning to exploit them to improve patient care,” he said.
Tumour genotyping influenced the switch in therapy for Twelve of the 80 research participants who had failed to respond to conventional therapy. 4 of the Twelve individuals had their illness stabilized and their lives prolonged as a result of the adjustments. An individual, who had acute myeloid leukemia, was healed after receiving blood stem cell transfusion.
“Through the comprehensive genomic testing in this study, we were able to clearly identify tumor variations that could be treated with targeted agents, opening doors for how oncologists manage their patients,” said co-corresponding author Kim Nichols, M.D., St. Jude Cancer Predisposition Division director.
References and further results
- Participants were recruited in Genomes for Kids from August 2015 through March 2017.
- 18 % had genetic mutations in one of the 156 cancer genes that had been identified.
- Present testing standards may not have found nearly two-thirds of the genetic alterations discovered.
Things to take later
Genotypes for Children assisted in the creation of the clinic’s medical genetics program, which has so far recruited over 2,700 cancer sufferers.
In the meantime, the Genomes of Kids report’s information is freely accessible to the global scientific population St. Jude hopes to accelerate progress in the study and therapy of childhood cancer through exchanging information. The information is accessible through St. Jude Cloud.
“Even the most treatable cancers are not curable in all patients. For example, relapse remains the leading cause of death for the most common childhood cancer, acute lymphoblastic leukemia,” Nichols said. “Being able to understand and predict which patients will respond to treatment and which won’t require collecting comprehensive genomic data on all patients.”