Genomic Research: Unlocking the building blocks to tomorrow’s cures today
As part of a generous gift of $10 million from Hyundai Motor America, the Hyundai Cancer Institute at CHOC is conducting incredible genomic research using the very latest technology to better understand the cancers that occur in children and teenagers. Whole genome (DNA) sequencing of both tumor and non-tumor tissue and transcriptome (RNA) sequencing of tumor tissue is being conducted to identify the molecular profile of cancers occurring in pediatric and adolescent patients.
This sequencing is helping researchers determine the best drugs currently available to treat those cancers. These cancer treatments can be used to extend life, increase survival, and improve the patient’s quality of life. Even if the tumor board is unable to identify a treatment that is available now, the information learned may be used to help researchers better understand what causes cancer and how it may be treated or prevented in the future. The research also provides scientists information on why some cancers become refractory (do not respond to therapy) or recurrent (come back after treatment).
Genomic Research and Cancer Treatment
The goal in the Cancer Institute is to collect tumor and non-tumor specimens from each and every child that is diagnosed with cancer at CHOC. At this time, specimens are not sequenced unless the child ‘s cancer is refractory or recurrent. The DNA and RNA is extracted from the tissues in the Molecular Laboratory at CHOC and sent to an off-site facility where the whole genome and transcriptome sequencing procedures are performed.
Once the sequencing is complete, the information is returned and analyzed by a multidisciplinary team of scientists including oncologists, cancer epidemiologists, cancer biologists and bioinformaticists. The goal of this specialized tumor board is to identify treatments that may be beneficial for the child or teenager with cancer based on the molecular profile of the cancer.
The Science of Genomic Research
Deoxyribonucleic acid (DNA) is a large molecule present in each cell of most living organisms that contains the instructions needed by every cell to function. In humans, the DNA molecule contains roughly three billion base pairs that are divided into 20,000 to 25,000 functional units called genes. By determining the order of the base pairs, researchers can identify genetic variations (mutations) that may be responsible for a child’s cancer. Usually, more than one mutation must be present before a cell becomes malignant (cancerous) and the presence of a mutation does not automatically mean that it will cause cancer.
In this very specialized form of cancer research, the DNA from the tumor is compared with the DNA from the non-tumor to identify the differences and help researchers identify what make the cancer cells special. The DNA is also compared with the reference human genome to determine if the differences seen are expected (normal variation) or unexpected (potentially disease-causing). Mutations that are known to cause cancer are also evaluated.
There are many different types of ribonucleic acid (RNA), which is different than DNA. RNA are much smaller molecules that carry out the instructions present in the DNA. By studying each patient’s RNA, researchers can tell which genes are working, which genes are not working and which genes are not working as expected (such as working too much or not enough).