This past Wednesday I attended a medical conference entitled “Newborn Sequencing of the Future” sponsored by the Rady Children’s Institute of Genomic Medicine. I was present both as a nurse and a mom. I must admit, about 50% of it was very technical, mathematical, and overly scientific for my day to day use but here are some pretty interesting takeaways from the presentation:
*We have been screening newborns routinely after birth since the 60’s for genetic conditions. Each state tests for different conditions. California tests for 57 disorders.
*Genetic conditions are the leading cause of death in PICU’s and NICU’s. The quicker you can get a diagnosis, the faster you can specifically treat the whole child, avoid unnecessary treatments, institute palliative care sooner if warranted, and bring more specific information to the family.
*One of the current goals in genetics is a low cost 24 hour whole genome test.
*Currently 28% of children who undergo whole genome testing get an actual diagnosis of a genetic disease.
*Creating a computer program or “machine” could increase the likely hood of getting a diagnosis to 51%
*De novo (occurring for the first time) mutations are the leading cause of genetic mutations. That means there is no family history of this genetic problem ever affecting any other family members.
It was really cool to listen to Dr. Stephen Kingsmore, the President and CEO of the Genomics Institute. His passion for the future of genomics was palpable. Everyone in the room who knew or works with him was pumped for the future. I am always amazed at people who have a gift and use it in a positive way to change many lives.
On a much less technical note, the picture above was taken at Legoland. We are so lucky to live in an area that has so much fun and has access to some amazing care for Ben.