​​​​​​​​​​​​​​​​​​Summer 2017​

Molecular testing reduces false positives, decreases outcome disparities and provides clinicians with greater insight about newborns' health

​Newborns are the latest beneficiaries of the expanding field of molecular testing. With APHL's support, molecular technologies are entering the practice of newborn screening, the nationwide program which tests newborns for genetic and metabolic conditions that can cause life-long disability or death if not treated promptly after birth.

Molecular technologies can help reduce false positive results, decrease disparities in health outcomes and provide more information to clinicians concerning their young patients. This is good news for the health of the more than four million babies born each year in the US and for the millions more worldwide who will ultimately benefit from these technologies. 

To date in 2017, APHL has made strides to extend the use and improve the quality of molecular testing in newborn screening. The association has:

  • Monitored molecular testing across newborn screening programs and provided technical assistance to laboratories incorporating new screening methods and technologies
  • Surveyed newborn screening programs to assess the status of molecular testing, including technologies, quality assurance and training needs 
  • Convened a meeting with the Centers for Disease Control and Prevention (CDC) and the US Health Resources and Services Administration (HRSA) to prepare for the introduction of gene sequencing technologies into routine newborn screening. Discussion of anticipated challenges and potential solutions led APHL to undertake several follow up initiatives
  • Delivered, in collaboration with CDC, hands-on training in molecular techniques to newborn screening laboratorians from 13 states.

In September 2017, APHL will continue these efforts at the Newborn Screening and Genetic Testing Symposium where newborn screening lab​​oratorians and follow-up specialists will come together to share updates and discuss unmet needs. This exchange will help APHL to define priorities for advancing the application of molecular technologies in newborn screening.​​