Newborn Screening & Genetics
OverviewThe APHL Newborn Screening and Genetics program strengthens the role of public health laboratories in genetics testing and designs strategies to address changes in the newborn screening testing field.
Newborn screening has long been a public health preventive program offered by state laboratories. Recent advances in technology and genetics highlight a growing need to incorporate advanced testing technologies in public health laboratories, and to explore the public health laboratory’s role in genetic testing.
Will Babies Get Screened When Disaster Strikes?
Hurricane Katrina was one of the most violent and deadly storms ever recorded in the US. The morning after it passed through coastal Louisiana in August 2005, Stephen Martin, chief of the Louisiana Public Health Laboratory, knew that difficult decisions were ahead. The situation in Louisiana that summer represents only one of the predicaments that might derail a state’s NBS program. Click here to find out how Louisiana ensured that babies were screened even after disaster struck.
Financing Newborn Screening: Sources, Issues and Future Considerations
Newborn screening (NBS) programs are uniquely financed compared with many other public health programs. A study published in the Journal of Public Health Management and Practice surveyed all 51 dried spot screening programs and found that 90% of programs have a portion of their costs paid by fees. The study’s survey highlighted a lack of a national standardized procedural coding system for NBS that contributed to billing complexities. The authors also found that differences in Medicaid interpretations contributed to financing inequities across NBS programs and there may be benefit from certain clarifications at the national level.
APHL Presents Comments to HHS Secretary's Advisory Committee
On April 14, 2005, APHL submitted written comments to the Health Resources and Services Administration (HRSA) on the American College of Medical Genetics (ACMG) report, Newborn Screening: Toward a Uniform Screening Panel and System. Frances Downes, DrPH, APHL board of directors member, presented APHL’s comments and concerns to the Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children Friday, April 20, 2005.
APHL’s comments | Dr. Downes' presentation
APHL 2004 Newborn Screening and Genetics Testing Symposium
The 2004 symposium was held in Atlanta, GA, May 3-6, 2004 and brought together almost 400 laboratorians, follow-up professionals and metabolic specialist around the world. It was the largest symposium ever and produced varied and expansive discussion on many aspects of newborn screening.
Oral Presentations | 2004 Newborn Screening and Genetic Testing Symposium
APHL 2002 Newborn Screening and Genetics Testing Symposium APHL convened this symposium in November 2002, in Phoenix, AZ, to address state and national newborn screening, genetic testing and policy issues important to public health laboratories.
Final Presntations | 2002 Newborn Screening and Genetics Testing Symposium Oral Presentations | 2002 Newborn Screening and Genetics Testing Symposium
Web Conferences
Unsatisfactory Newborn Screening Specimens: Interpretations, Studies and Current Trends | May 17, 2005
Sponsored by the APHL newborn screening committee with the Newborn Screening Quality Assurance Program (CDC) and the NLTN. [more]
Tandem Mass Spectrometry QA/QC for Newborn Screening | January 21 and February 4, 2004
Sponsored by the Newborn Screening Quality Assurance Program (CDC), the APHL Quality Assurance/Quality Control/Proficiency Testing subcommittee and the NLTN. [more]
More on QA/QC | More on Training
Satellite Broadcast | A New Era in Newborn Screening
The APHL newborn screening committee co-sponsored a satellite program A New Era In Newborn Screening - Saving Lives, Improving Outcomes Newborn Screening Satellite Program, with CDC/DLS and the NLTN program on September 19, 2002. The program focused on recognition, detection, and diagnosis leading to early intervention and effective management of metabolic disease, endocrine disorders, and hemoglobinopathies in newborns.
Tandem Mass Spectrometry Workshops
APHL Newborn Screening and Genetics in Public Health committee co-sponsored workshops entitled “Tandem Mass Spectrometry: A Course in Understanding Laboratory Issues and Interpreting Test Results”. Nineteen participants from 25 states have completed this five-day intensive workshop at Duke and Baylor University.
For more information
Jelili Ojodu, MPH
Newborn Screening and Genetics Program Manager
240.485.2772 |
jojodu@aphl.org