New Genetic Signatures Could Advance Leukemia Precision Medicine

New Genetic Signatures Could Advance Leukemia Precision Medicine

Using next-generation sequencing, researchers have discovered new genetic signatures that could facilitate precision medicine for children with leukemia.

By Jessica Kent

March 09, 2020 – Researchers from Nemours Children’s Health System have identified new genetic structural variants that could help deliver more personalized care and precision medicine to patients with leukemia.

The team utilized next-generation sequencing to more precisely identify genomic characteristics of leukemias in children, the most common form of childhood cancer. The new genetic signatures could be used to evaluate the presence of minimal residual disease during the course of chemotherapy and help determine patients’ responses to various chemotherapies.

“Progress in the field of genomic research and advanced technology has allowed us to find new variants that can better target treatments for kids with cancer,” said Erin Crowgey, PhD, lead author of the study and Director of Clinical Bioinformatics at Nemours.

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“Pediatric leukemias have a diverse and complex genomic structure, and older sequencing techniques were missing a lot of the important information that guides our clinical evaluation, risk identification, and therapeutic strategy for patients.”

Researchers analyzed DNA and RNA from bone marrow, cell lines, and umbilical cord samples from 32 pediatric leukemia patients and five adult leukemia patients. The team collected patient samples at diagnosis, end of first treatment, and relapse. The group then sequenced the samples using molecular barcoding with targeted DNA and RNA library enrichment techniques.

The sequencing identified multiple novel gene fusions and previously unknown copy number losses in leukemia genes, which enabled more sensitive detection of these genetic variants.

Ultimately, researchers hope to bring genomic testing into routine clinical practice so that it can be used regularly, resulting in a pediatric onco-specific genomic treatment program at Nemours. In doing so, the health system would be following in the footsteps of other major institutions, including Geisinger Health System.

In May 2018, Geisinger announced that it would soon integrate genomic sequencing with routine clinical care to advance precision medicine and improve patient outcomes. Since then, Geisinger has returned pertinent genetic information to hundreds of individuals, allowing people to better understand their health and disease risks.

“Since we launched the project, we’ve tested over 800 patients. We’re getting ready to launch DNA screening in three additional clinics within the next few months, and we’ll be offering it to all patients,” Christa Martin, PhD, FACMG, director of the Autism & Developmental Medicine Institute at Geisinger, told

“We’ve found that of all the people we test, about two to four percent will find a genetic change that causes cancer, or heart disease, or another disorder.”

NorthShore University HealthSystem is also advancing genomics and precision medicine. The organization recently reported that it has delivered actionable clinical genomic results to 10,000 patients through its DNA-10K Program.

“We’ve built a model of Advanced Primary Care that is transforming the delivery of healthcare,” said J.P. Gallagher, President and Chief Executive Officer of NorthShore.

“We’ve seen firsthand that genetic information is a foundational part of healthcare for all patients. Clinically relevant findings provide lifesaving information that physicians can immediately use to diagnose, treat and even avoid diseases.”

By integrating genomic information with regular clinical care, Nemours will aim to enhance care for pediatric patients.

“Dr. Crowgey’s work brings complex genomic testing closer to the bedside to improve the treatment of children with cancer,” said E. Anders Kolb, MD, Director of Nemours Center for Cancer and Blood Disorders and a co-author of the paper.

The new genetic signatures have the potential to help providers develop more targeted treatments for children with cancer.

“Hearing that your child has cancer is scary; particularly that the clinical presentation of his disease is unique and there is no other research that matches his case,” said Sophie Hayes, mother of Eliot Hayes, a patient at Nemours.

“So, when the genomic results came back and showed that Eliot’s cancer was not unique at the genetic level, we were very grateful to the scientific community and to Nemours. This early knowledge enabled us to incorporate an additional line of attack into his treatment and offered us hope.”

Article via Health IT Analytics.