Rapid genome testing for infants saves lives, costs

Its name conjures up images of a familiar fairy tale, but Project Baby Bear has produced some very impressive real-world results that could save the lives of thousands of seriously ill infants.

The recently completed two-year pilot program at five clinical sites in California – including CHOC Children’s – helped doctors target a baby’s specific genetic disease in a matter of days, instead of the four to six weeks required for standard genetic tests.

That means quicker diagnoses leading to quicker treatments, less time in the hospital and more answers for anxious parents.

“It can be a real game changer,” said Dr. Jason Knight, a pediatric critical care physician and medical director of CHOC’s pediatric intensive care unit and one of the physician leads on the project. “It’s a tool we didn’t have a few years ago.”

Changing the game

By employing rapid whole genome sequencing (rWGS), doctors could gather vital information that changed the decisions families and clinicians made, and ultimately saved lives and resources. The procedure has historically been used only as a last resort.

By pinpointing the cause of rare disease with rWGS, physicians can customize treatment. And having a genetic diagnosis can eliminate the need for further tests, improve outcomes, reduce hospital stay length and improve the experience of care for families – all while also reducing costs.

In addition, substantial reductions in healthcare spending — $2.5 million — accrued largely because rWGS permitted doctors to discharge babies sooner and reduce the number of procedures that may have been performed in the absence of a precise diagnosis.

Avoided procedures included 11 major surgeries and 16 fewer diagnostic tests such as  open muscle, liver and other biopsies that are performed under general anesthesia.

Success story

In one case, a newborn baby girl with a life-threatening irregular heartbeat was admitted to CHOC Children’s Hospital. Instead of undergoing an arduous battery of tests, the child was diagnosed within two days with 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 the appropriate medication  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.

She recently celebrated her first birthday.

“Without the results of her rapid whole genome sequence, she would have gone home on a different medication and been at a much higher risk for sudden death,” Dr. Knight said. “She got the right diagnosis and we gave her a pacemaker so her risk of sudden death went to zero.”

In all, Project Baby Bear provided diagnoses for 76 of the 178 babies who completed rWGS. This led to a change in the care of 66 babies. It diagnosed 35 rare conditions that occur in less than one in 1 million births. About 150,000 children could benefit from rWGS.

Turning every stone

Even if the test doesn’t diagnose a problem, it can help comfort families, Dr. Knight said.

“Even a negative test can be helpful for some families to know we’re not missing something,” he said. “It gives them assurance that we’ve turned over every stone.”

With the success of the study, Dr. Knight hopes to see the service expand to reach more patients.

“Should we be doing this with all newborns?” he asked. “Based on our experience with Project Baby Bear, it would seem feasible that for newborns and children in intensive care units without clear diagnoses, this should be part of our diagnostic process and the earlier the better.”

Multidisciplinary, multi-site effort

CHOC’s role in Project Baby Bear is a collaborative, multi-disciplinary effort involving many clinicians and staff, including research coordinators Cathy Flores, Erum Naeem and Ofelia Vargas-Shiraishi, and physician leads Drs. John Cleary, Juliette Hunt, Adam Schwarz and Neda Zadeh, in addition to Dr. Knight.

Led by Rady Children’s Hospital-San Diego, Project Baby Bear helps infants who are undergoing intensive care and covered by Medi-Cal. 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.

The $2 million Project Baby Bear was funded by the State of California. In-kind contributions of $400,000 from Rady Children’s Hospital ensured more than 90 percent of the state funds were used to support the care and management of critically ill babies.

Learn more about the CHOC Children’s Research Institute.

2015 CHOC Children’s – UC Irvine Child Health Research Awards

We are pleased to announce that we just completed another round of the CHOC Children’s – UC Irvine Child Health Research Awards, our annual call for proposals that enhance research collaborations between CHOC and UC Irvine and further the Mission, Vision and strategic aims of the CHOC-UCI Child Health Research Strategic Plan. Intended to support research and collaboration in targeted areas of research excellence that align research strengths for focused growth and maximal translational impact, our call this year specifically solicited applications for two funding mechanisms, Pilot Collaborative Research Awards and Clinician Investigator Awards.

Child Health Research Award - UC Irvine Infographic

Pilot Collaborative Research Awards are intended to provide funds for collaborative projects in need of initial start-up funding to enable procurement of other independent support. These awards are designed to promote novel, translational research efforts that coalesce talented clinicians and researchers from CHOC and UC Irvine. Projects bring investigators from multiple disciplines from CHOC and UC Irvine together to identify targets for improved diagnosis, prevention, or treatment of a pediatric health problem relevant to the goals of the CHOC-UCI Child Health Research Strategic Plan.

Clinician Investigator Awards are intended to provide funds for clinician-investigator initiated projects in need of funding to advance study into a clinically relevant and important topic that has a high likelihood of impacting clinical practice and the positive experience of pediatric/ adolescent patients and their families. Priorities are given to proposals that are closely aligned with the research themes identified in the CHOC – UCI Child Health Research Strategic Plan. Projects identify targets for improved diagnosis, prevention, or treatment of a pediatric health problem relevant to the goals of the CHOC-UCI Child Health Research Strategic Plan. Collaborations between CHOC and UCI faculty are strongly encouraged, but not required.

This year we received 18 proposals, an increase of 13% over last year, covering a wide range of topics and specialties. After external academic peer reviews and committee discussions, we decided to fund 6 projects, 3 Pilot Collaborative Research Awards and 3 Clinician Investigator Awards.

Congratulations to the well-deserving recipients of the 2015 awards! They are listed below, in order of award type and Principle Investigator’s last name.

 

Pilot Collaborative Research Awards.

Principal Investigator: Dr. Gurpreet Ahuja

Collaborators: Drs. Nguyen PhamKevin Huoh, Naveen Bhandarkar, Carolyn Coughlan, Joon You

Project Title: NIR Imaging of Pediatric Sinuses

 

Principal Investigator: Dr. Tami John

Collaborators: Drs. Lilibeth Torno, Daniela Bota, Grace Mucci, Mary Zupanc, Jack Lin

Project Title: Cognitive Training to Promote Neuroplasticity and Neural Re-circuitry in Chemotherapy

Associated Cognitive Impairment

 

Principal Investigator: Dr. Calvin Li

Collaborators: Drs. John Weiss, Hong Yin, William Loudon

Project Title: A Tunable Engineered Tissue Graft Model for Repair of Traumatic Brain Injury

 

Clinician Investigator Awards

Principal Investigator: Dr. Antonio Arrieta

Collaborators: Drs. Katrine Whiteson, David Michalik

Project Title: Addressing the Fear Factor in Neonatal Serious Bacterial Infections: Distinguishing E Coli From Bacteremia, Urinary Tract Infection, and Bacteremic Urinary Tract Infection in Infants <28 Days vs. >28 Days to 90 Days Old by Pairing E. Coli Genome Analysis with Clinical Data

 

Principal Investigator: Dr. Joanne Starr

Collaborators: Drs. Richard Gates, Sharief Taraman, Mary Zupanc, Paul Yost, Michele Domico, Juliette Hunt, Tammy Yoon, Kimberley Lakes

Project Title: Seizures and Neurodevelopmental Outcomes in Mild Hypothermic Cardiopulmonary Bypass

 

Principal Investigators: Dr. Sharief Taraman and Ruth McCarty

Collaborators: Drs. William Loudon, Frank Hsu

Project Title: The Use of Traditional Chinese Medicine (TCM) as a Complementary Treatment of Pediatric and Young Adults with Post-Concussive Syndrome