ResearchCon 2024 | The Hits and Misses of CF Newborn Screening

Cystic fibrosis newborn screening has come a long way, but falls short in capturing everyone with CF. This session showcases a new video resource for understanding health equity in CF followed by an overview of the CF newborn screening process from Karen Raraigh, MGC, a CF genetic counselor. The genetic counselor is joined by two parents, Noah Singer and Cambrey White, who share separate stories about their children’s health outcomes following newborn screening. From this session you'll gain a better understanding of the CF newborn screening process, differences in screening across states and by demographics, and learn about upcoming opportunities to shape newborn screening policy.

Originally recorded April 30, 2024.

00:00 | The Hits and Misses of CF Newborn Screening (NBS)
01:32 | Healthy Equity in CF
11:07 | Newborn screening basics 
12:30 | What is the workflow of CF newborn screening?  
15:17 | What differences exist within the newborn screening process? 
19:14 | Why do differing results matter?  
20:40 | Impacts of CF newborn screening on race and ethnicity
23:50 | Introducing Cambrey Vazconez White, a parent of a person with CF 
24:08 | The White family’s experiences with NBS
31:10 | Introducing Noah Singer, a parent of a person with CF  
31:19 | The Singer family’s experiences with NBS
37:31 | Ways to get involved 
38:48 | What is the CF Foundation doing to improve NBS?
39:16 | What happens when a patient/family isn’t getting in touch with family?
44:07 | Working newborn screening working group
45:20 | What organizations run the newborn screening?  
47:30 | How many variants are recommended to be tested? 
49:15 | What do you wish the genetic community knew about your experience?