Offering answers, hope through rapid whole genome sequencing

The newborn baby girl arrived at CHOC Children’s Hospital with a life-threatening irregular heartbeat. Thwarting what could have become a medical odyssey to find a diagnosis, rapid whole genome sequencing (rWGS) pinpointed her condition within two days: Timothy Syndrome, an extremely rare cardiac condition that put her at risk for sudden death.

With the genetic diagnosis in hand, CHOC physicians were able to treat the infant with a medication normally contraindicated for her condition. Her heartbeat was restored to normal, significantly reducing the risk of sudden cardiac death. Her physicians, secure in her diagnosis, implanted a pacemaker, dramatically improving her chances for a happy and healthy childhood.

Now almost 1, this baby is one of nearly 150 critically ill infants who have undergone rapid whole genome sequencing (rWGS) since fall 2018 as part of Project Baby Bear, a pilot project to save babies’ lives – in addition to healthcare costs.

With five participating California children’s hospitals, including CHOC Children’s, Project Baby Bear has proven the medical and economic benefits of this most advanced and comprehensive diagnostic method.

Led by Rady Children’s Hospital-San Diego, the program helps infants who are undergoing intensive care and covered by Medi-Cal. By pinpointing the cause of rare disease with rWGS, physicians can customize treatment. Having a genetic diagnosis can eliminate the need for futile tests and procedures while decreasing hospital stays. For parents and children, getting a fast answer means less suffering and more peace of mind.

The other participating hospitals include: UCSF Benioff Children’s Hospital Oakland, UC Davis Children’s Hospital in Sacramento, and Valley Children’s Healthcare in Madera.

Here’s a breakdown of each site’s cases and diagnoses, as of August 2019:

Here’s a look at Project Baby Bear by the numbers:

  • July 2019: project funded
  • $2 million: California state funding
  • 5: Number of participating hospitals statewide
  • 150 approximate infants sequenced
  • 182 hospital days avoided
  • 3 to 4 days: Ultra-rapid results turnaround
  • 3 to 7 days: Rapid results turnaround
  • 6 million children on Medi-Cal
  • 150,000 children could benefit from rWGS

Learn more about the CHOC Children’s Research Institute.

Dr. Leonard Sender Discusses Genomic Cancer Research

Genomic cancer treatment examines a patient’s genomes to reveal individualized treatment to best battle cancer, Dr. Leonard Sender, medical director of the Hyundai Cancer Institute at CHOC Children’s, tells “American Health Journal.”

Using this method, scientists for the first time can devise science-directed medicine, rather than evidence-based medicine, Dr. Sender says.

Learn more about genomic cancer research in “American Health Journal,” a television program that airs on PBS and other national network affiliates that reach more than 30 million households.

Each 30-minute episode features six segments with a diverse range of medical specialists discussing a full spectrum of health topics. For more information, visit www.discoverhealth.tv.

Leonard Sender, M.D., received his medical education in South Africa and completed his pediatrics internship and residency at UC Irvine Medical Center. His pediatrics hematology/oncology subspecialty training included Children’s Hospital of Los Angeles.

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