In 2016, the Maternal and Child Health Bureau (MCHB) integrated the National Survey of Children’s Health and National Survey of Children with Special Health Care Needs.  The results of this survey, including information on if a parent has ever been told by a provider that their child has a genetic condition, were recently published in the HRSA Data Resource Center.  Explore the data at: http://www.childhealthdata.org/learn/NSCH?mc_cid=b3d4cf630a&mc_eid=770ca46dd4

APHL assists state programs to implement newborn screening for Pompe, MPS I and X-ALD through NewSTEPs and the New Disorders Implementation Project. During the first webinar of this series, the Iowa Department of Public Health and the Tennessee Department of Health presented progress on their activities.

As a part of their newly updated website, NewSTEPs developed a resource library that can be filtered by disorder, topic, and type.  The disorders menu highlights conditions that are newer to the Recommended Uniform Screening Panel.  The topic menu includes areas such as follow-up, quality improvement, policy, and timeliness.  The type menu refers to the format of the resource, including webinars, policy statements, reports, and educational tools.  Submissions of additional resources are encouraged and accepted as the library continues to grow. Please direct any submissions to Sari Edelman at sari.edelman@aphl.org.

This NewSTEPs Short Term Follow Up webinar featured a state spotlight on the California newborn screening program followed by presentations on parent experiences with short term follow up from Allison Wood, parent of a child with GA-1, and Natasha Bonhomme, Chief Strategy Officer at Genetic Alliance and Director of Baby’s First Test.

APHL recently launched the State NBS Bills webpage to provide an interactive platform to monitor newborn screening legislation across the US, such as new additions to state NBS panels and fee increases. Users can click on highlighted states to view proposed and enacted legislation, and bill information is automatically updated as it becomes available. This tool is restricted to APHL staff, NBS program personnel, state laboratory directors and federal partners. 

The 2017 APHL Newborn Screening and Genetic Testing Symposium was held in New Orleans, LA in September.  The meeting addressed state, national and international newborn screening, genetic testing, and policy issues important to national and global public health.  Topics included laboratory updates, molecular advances, candidate conditions, clinical outcomes, short and long-term follow up and quality assurance/quality control.  Select presentations are now available here.

APHL is soliciting applications for the annual Molecular Training Workshop, to be held Monday,

February 26 to Friday, March 2, 2018, at the CDC’s Newborn Screening and Molecular Biology Branch Laboratories in Atlanta, GA.  This five-day intensive workshop will include wet-lab activities related to newborn disorders as well as lectures and discussions.  Discussion topics will include data reporting and interpretation, evaluation and QA/QC issues, just to name a few.

Visit the training webpage to access the application.  For more information, please contact Laura Russell.

Baby’s First Test hosted a webinar in September on how newborn screening programs can effectively collaborate with and support family advocates.  During the webinar, Amy Gaviglio, MS, CGC from the Minnesota Department of Health, discussed Minnesota’s experience supporting family advocates, and Shanna Quimby shared her family’s advocacy journey and her work through Gavin Flying for a Cure.

The webinar recording is available here.  You can join the online discussion about working with family advocates in newborn screening here.

This webinar was part of a NewSTEPs 360 newborn screening, cystic fibrosis community outreach and is posted here.  It included an interactive problem solving/idea sharing session on two-screen states performing IRT/IRT/DNA panels, with a primary focus on states that are currently using this algorithm. States new or soon to be new to this algorithm will benefit from this webinar, as well as programs that have recently implemented changes to their CF algorithms.

This NewSTEPs webinar features an update on SCID newborn screening nationally and lessons learned from the SCID In-Person Meeting and is posted here.  Newborn screening experiences were also shared from the Utah and Tennessee newborn screening programs.

Southeast Regional Genetics Network Videos on the Emory University Metabolic Camp

Emory University holds an annual summer Metabolic Camp for adolescent girls and young women with inherited metabolic disorders, including phenylketonuria (PKU) and maple syrup urine disease (MSUD).  The research-based camp helps adolescent girls and young women learn how to care for their own health, and how to assure that they have healthy children, when and if they decide to start their own families.  Two videos about the program were developed by the Southeast Regional Genetics Network (SERN) and are available here and here.