Valley Children’s Healthcare includes a 358 pediatric bed, general medical and surgical hospital located in Madera, California that is nationally ranked in seven pediatric specialties by U.S. News & World Report and a designated Magnet facility. The hospital offers a Level II pediatric trauma center – the only one in Central California – as well as a Level IV neonatal intensive care unit and three neonatal units in the surrounding area.
The hospital’s Medical Genetics and Metabolism department offers comprehensive services to children with suspected genetic conditions and recently launched a Precision Medicine Initiative designed to customize medical care for specific groups of patients by using genetic or molecular profiling to optimize efficiency or therapeutic benefit.
Valley Children’s Healthcare was one of five clinical sites invited to participate in the Project Baby Bear pilot study; upon completion of the project, the hospital had screened 38 babies resulting in 18 diagnoses – more than any of the other hospitals – and subsequently changed the care management for 10 of those infants. One of these babies, Nathan, had his genome sequenced after presenting with multiple symptoms – seizures, cataracts and loose skin – and was diagnosed with Cutis Laxa skin syndrome Type 3, a rare connective tissue disorder.
“We were honored to be invited to partner with Rady Children’s Hospital Institute for Genomic Medicine as part of this pilot study, which allowed our institution to offer this valuable resource to our most vulnerable patients in the Central Valley,” said Jason Carmichael, MS, CGS, Lead Clinical Genetic Counselor at the hospital. “It just felt comfortable working with them, they were an extension of our clinical team.”
When they call us with results, they’ve already looked into things, such as a study of a drug that might be helpful to an infant with a certain diagnosis, or they’ve reached out to individuals who are doing studies on rare diseases and share feedback from their conversations.”
— Jason Carmichael, MS, CGS, Lead Clinical Genetic Counselor
As a genetic counselor, Carmichael works with individuals who are planning a pregnancy, pregnant or caring for a critically ill newborn, as well as healthcare professionals, to educate them about inherited conditions and genetic testing.
“Having RCIGM as our partner, makes things much easier for the hospital’s genetics team and NICU/PICU physicians,” added Carmichael. “Staff members at RCIGM are always accessible and willing to go the extra mile for every single baby that is sequenced. They take the time to actually do the background research and provide us with answers that we can share with the parents. This is not only helpful for the newborn, but also for the parents who may be considering having another child. We are better able to counsel them about recurrence risk factors.”
“One of the things I value most about RCIGM is the excellent level of care for each baby’s sample like it was their own patient,” said Carmichael. Although the hospital has relationships with commercial labs, Carmichael feels that the personalized approach is often missing and that his team has to initiate a conversation to get further information from those labs. “Additionally, the quality of RCIGM’s testing, as well as the speed and turnaround time are excellent,” said Carmichael. “It is the fastest results that we have received from whole genome sequencing. There has not been an equivalent lab that has come close to offering the same level of service or turnaround time.”
“RCIGM has really leveled the playing field for everyone and provides these families with answers that would have taken a lengthy amount of time to receive through standard genetic testing,” said Carmichael. “I think this is a major value, and we were able to get answers for these families and take action sooner rather than waiting.
“Families deeply appreciate that we offer rWGS, ” said Carmichael. “I bumped into a mom in public and she told me, ‘I’ve met other parents who have a child with the same diagnosis as mine, and they were just shocked at the fact that we received our child’s diagnosis so quickly.’ Every family I’ve interacted with has been so thankful to us and RCIGM.”