1 Year In, the Molecular Characterization Initiative Has Analyzed Samples From Over 1,000 Patients

1 Year In, the Molecular Characterization Initiative Has Analyzed Samples From Over 1,000 Patients 1024 614 Abbie Miller
abstract art of magnifying glass over DNA strand

Data from the analysis helps clinicians confirm diagnoses and identify targeted treatments. The data also support new pediatric cancer research through the National Cancer Institute’s Childhood Cancer Data Initiative.


The CCDI Molecular Characterization Initiative (MCI) is a project that aims to collect, analyze and report clinical and molecular data and is currently supporting Children’s Oncology Group (COG)-affiliated clinicians in choosing the best treatment for each child through precision diagnosis. This program is part of the National Cancer Institute (NCI) Childhood Cancer Data Initiative (CCDI), a national commitment and community-wide effort to harness data in ways that speed up progress in childhood cancer. Announced last year, the MCI is a collaboration among NCI, part of the National Institutes of Health, COG and Nationwide Children’s Hospital and is the largest initiative of its kind in the United States.

“Just one year in, we are tremendously proud of the number of cancer patients we have supported through molecular characterization,” says Elaine Mardis, PhD, co-executive director of the Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) at Nationwide Children’s. “This initiative increases the accessibility to state-of-the-art clinical genomic testing for pediatric cancer patients across the United States and around the world.”

The MCI enrolled their first patient March 31, 2022. Since then, samples from 1,236 patients have been received at the COG Biobank housed at the Nationwide Children’s Biopathology Center, where they are processed to extract DNA and RNA and sent on to Nationwide Children’s IGM for testing. Out of these samples, 1,137 were of sufficient quality and quantity for molecular analysis by the IGM. The IGM is funded to perform this analysis through a subcontract with Leidos Biomedical Research, Inc., current operator of the Frederick National Laboratory for Cancer Research.

To date, the team has received samples from children in 47 states. They’ve also received more than 120 international samples from Australia, Canada and New Zealand. In total, 166 of 226 COG sites have enrolled patients onto the MCI.

“At Nationwide Children’s, we are deeply invested in promoting health equity for children everywhere,” says Dr. Mardis. “For the children represented by these samples, we are bringing precision diagnosis to them where they are receiving care. This increase of access supports clinicians and families across the country and international COG sites, and it is a wonderful example of how our efforts contribute to health equity.”

While the MCI initially focused on pediatric brain and spinal cord cancers, the types of tumors sampled and tested have expanded to include soft tissue sarcomas and a subset of other rare cancers.

“At the Biopathology Center, we oversee the COG Biobank and this work for the MCI has been a wonderful example of our mission. We ensure that patient samples are processed to provide high-quality specimens for molecular analysis and biobanking,” says Nilsa Ramirez, MD, director for the Biopathology Center in the Abigail Wexner Research Institute at Nationwide Children’s.

For MCI testing, the IGM team sequences tumor and normal DNA to identify alterations, sequences the RNA using a fixed panel to identify fusions and performs microarray-based DNA methylation. All testing results are delivered to providers as clinical results for use in medical care decisions.

“With these results impacting patient care, time is of the essence. We aim to complete the entire process from receipt of the specimens at our center through final analysis in the IGM within 21 days, which is an exceptional turnaround time for this process. We’re proud to be an essential part of this pioneering initiative,” says Dr. Ramirez.

The returned results are provided to clinicians and participants through state-of-the-art cloud-based access to clinical reports. The genomic data and clinical results from testing are accessible to researchers through the CCDI Data Ecosystem, run by the NCI to enable future research in pediatric cancers. Data from over 800 cases already are available in the CCDI Data Ecosystem.

With over 220 COG member hospitals that treat childhood cancer, the initiative is poised for continued growth.

“It has been amazing to see the vision of these organizations come together to transform the MCI from idea to reality,” says Douglas Hawkins, MD, group chair of COG. “For 92.5% of the samples analyzed to provide cancer-relevant data for clinical decision making is so exciting. And we’re just getting started. As the types of tumors being analyzed expands and as the field of molecular characterization continues to evolve, we look forward to being able to offer valuable information for clinicians and researchers.”


Returning Clinically Relevant Results
Testing methodology Percent with clinically reportable results
Tumor/normal comparison 84%
Methylation (brain tumor samples only) 79%
Fusion testing 28%


About the author

Abbie (Roth) Miller, MWC, is a passionate communicator of science. As the manager, medical and science content, at Nationwide Children’s Hospital, she shares stories about innovative research and discovery with audiences ranging from parents to preeminent researchers and leaders. Before coming to Nationwide Children’s, Abbie used her communication skills to engage audiences with a wide variety of science topics. She is a Medical Writer Certified®, credentialed by the American Medical Writers Association.