2014 Conference Videos

This page contains PDF documents.
Get Adobe Reader

50 Years of Newborn Screening: How Did We Get Here?

Presenter: Alex Kemper, MD, MPH, MS

Newborn screening is recognized internationally as an essential preventative public health program for early identification of disorders in newborns that can affect their long-term health. Early detection, diagnosis, and treatment of genetic, metabolic or congenital disorders can lead to decreased mortality and morbidity.

 

 

 

Texas Newborn Screening: Where are We Now?

Presenter: Debra Freedenberg, MD, PhD

The Texas newborn screening program serves close to 4 million babies every year. The program includes centralized laboratory testing and clinical care coordination. Together these components provide identification and linkage to clinical care and resources. The complex newborn screening system in Texas is discussed.

 

 

 

The Future of Newborn Screening and Genomics

Presenter: Cynthia M. Powell, MD

Genomic sequencing has the potential to diagnose a vast array of disorders and conditions at the very start of life. But the ability to decipher an individual’s genetic code rapidly also brings with it a host of clinical and ethical issues. The possible future application of new genomics concepts and technologies to newborn screening and child health is discussed.

 

 

 

Emerging Ethical Challenges in Newborn Screening

Presenter: Laurence McCullough, PhD

Advances in genetic research promise great strides in the diagnosis and treatment of many childhood diseases. However, emerging genetic technology often enable testing and screening before the development of definitive treatment or preventive measures. Several ethical controversies are found in newborn screening: The question of informed consent; whether to disclose incidental discoveries such

as carrier status; whether an efficacious treatment must exist; and when to screen universally or target testing to particular populations.

 

 

 

P3 Perspective: Physicians, Parents & Providers

Presenters: Garrett Gotway, MD, PhD; Mary Esther Carlin, MD; and parents of a child with a diagnosed disorder

This dynamic panel discussion brought together the three main components of the newborn screening system to offer their perspectives to attendees. How do physicians and providers interact and communicate with parents of a newborn who has a positive screen for the disorder? What part does newborn screening play in the transition through the child’s lifespan to ensure continuity of care?