CF study #1: Quality improvement when diagnosing cystic fibrosis in newborns
A study led by Renee Temme, MS, CGC, genetic counselor at Children's, evaluated if parental knowledge about the genetics of CF and their child's CF carrier status following genetic counseling improved when a short educational video was viewed after counseling.
Minnesota started screening all babies for CF March 1, 2006. Diagnosing cystic fibrosis at an early age provides many benefits, including early initiation of treatment. Some carriers for CF are identified through the NBS process. All infants with one or two CFTR gene mutations identified have follow-up sweat chloride testing around one month of age.
Children's set out to improve parental understanding of the genetics of CF and their child's CF carrier status by creating a short educational video about positive newborn screening results and the genetics of CF. Children's researchers also assessed resources used by families before and after the appointment.
The study findings reinforce the importance of genetic counseling and education for families with infants who screen positive for CF. The video increased parental understanding of the NBS results immediately following genetic counseling. Moreover, the knowledge was sustained for both video and non-video groups six weeks post-genetic counseling. Most parents reported they accessed resources available online about CF before coming in for follow-up testing. Therefore, the video is now available online for parents to view after finding out about their child's positive NBS result and before follow-up testing. Children's research team is also presenting the results at the October 2013 North American Cystic Fibrosis Conference.
the educational video about positive NBS results and the genetics of cystic fibrosis.