Introduction

To improve the lives and outcomes of critically ill newborns with rare genetic diseases and their families

Mission & Goals

Our mission is to collaboratively perform high quality research, quality improvement and advocacy in level IV NICUs to increase the knowledge and the understanding of rare genetic diseases in critically ill newborns.

Why Genomics?

• 7000+ rare diseases
• Most rare diseases are genetic
• Many present to Level IV NICUs
• 1 in 5 babies in Level IV NICUs has a rare genetic disease
• Recent advances in genomic testing have made early diagnosis possible, but best practices remain unknown

Our Goals

1. Describe the burden and natural history of rare genetic diseases in level IV NICUs.
2. Describe variation in provision of genetic and genomic medicine services across CHNC sites and better characterize the impact of different approaches to genetic consultation, counseling and testing in level IV NICUs on patients, families, and providers.
3. Provide an interdisciplinary forum to support development of best practices in the identification and evaluation of neonates with potential genetic disease in level IV NICUs including the timing and nature of such evaluations as well as patient and provider educational materials.
4. Partner with families of infants with rare genetic diseases in level IV NICUs to incorporate their needs and insights into research and advocacy efforts.
5. Provide CHNC leadership with subject matter expertise when updating CHND so it can accurately and efficiently capture relevant information about genetic and genomic testing and diagnoses.
6. Partner with existing CHNC focus groups to supply them with subject matter experts when they seek to integrate genetic and genomic information into their projects.

Current Projects

• Survey of Genomic Medicine Practices and Service Availability at CHNC Centers
• Retrospective review of genetic diagnoses captured in the CHND
• Manual of Procedures review to add structured information on genetic and genomic diagnoses to CHND