Whole genome sequencing and cost savings in NICU

3min Snip

00:00

Play full episode

Summary

Comments

Transcript

Episode notes

The cost of whole genome sequencing has significantly declined, allowing for advancements in testing methods. Whole genome sequencing has the potential to replace single gene testing and panels, and can now include data from the transcriptome and epigenome. Whole genome sequencing often requires sequencing the parents as well to determine if a variant is hereditary or de novo. While the cost of whole genome sequencing may be expensive, it can result in cost savings in the neonatal and pediatric intensive care units (NICUs and PICUs). By reducing the length of time a child needs to stay in the NICU, significant money can be saved. In some cases, a single day of savings from a rapid home genome test can offset the cost of the test. This is particularly beneficial in the NICU population, as some children stay in the NICU for months or even over a year. Additionally, the payment structure in healthcare changes for long-term NICU patients, making cost savings even more significant. Overall, whole genome sequencing offers a win-win-win situation, benefiting the patient, the family, and the healthcare system.

Join us today for a conversation on the exciting progress and possibilities of genetics in pediatric care, with Dr. Caleb Bupp. Caleb is the Division Chief of Medical Genetics and Genomics at Spectrum Health and Helen DeVos Children’s Hospital, and we get to hear from him about his path into this role, and how he first discovered his passion for helping young ones. Our guest comments on the central themes of parental communication, cost reduction, and genetic exceptionalism before we delve into some of the most noteworthy points of progress in the pediatric field at the moment. We look at the Project Baby Bear and Project Baby Deer programs, and the important impact that the speed and timing of results can have on the care of kids, with Caleb explaining the societal norms and expectations around genetics and engagement with these datasets. He also raises some concerns about access to care and shares an inspiring success story from the last few years, so make sure to tune in to get it all.

If you have a sick kid and you can do a test to figure out why they’re sick really fast, you give better care.” — Dr. Caleb Bupp Key Points From This Episode:

Caleb takes us through his career journey and the roots of his interest in genetics and pediatrics.
Reflection on the Concert Genetics Conference and Caleb’s involvement.
Reducing costs and freeing up resources for more impactful care.
Thoughts on the intangible value of providing comprehensive patient information for parents.
Dr. Bupp weighs in on the topic of genetic exceptionalism.
Surprising recent developments in fields of genetics and pediatrics.
Potential challenges with the amounts of information that clinicians needs to process.
Experiences and progress with the Project Baby Bear program.
Caleb’s recent paper and presentation on the work at Project Baby Deer.
The impact of earlier and faster intervention when treating children.
How more proactive and effective screening can affect general societal health.
Caleb shares the standout story of a patient with variants of uncertain significance and DFMO (difluoromethylornithine, a substance being studied in the treatment of cancer).
Applying the principals of drug repurposing to other scenarios.
Looking to the future and Caleb’s hopes for the short and long-term of the pediatric space.