Inborn Errors of Metabolism Collaborative

Newborn blood spot screening is a critical public health responsibility. Babies are screened with the hope that early diagnosis and treatment will be a good investment of public resources for the babies, their families, and for society. Although some health benefits are clear, for most newborn-screened disorders there is no long-term assessment of outcomes. To know that screening is effective in improving outcomes, we need to follow a screened baby's progress.

The Inborn Errors of Metabolism Collaborative (IBEMC) systematically collects information about the clinical progress of people that have conditions identified by newborn screening, focusing on inborn errors of metabolism. Data are used to learn about their survival, medical status, and long-term outcomes; and permit development of evidence-based practice in patient care.

Our Partners

NBSTRN logo Heartland logo NYMAC logo Region 4 Genetics Collaborative logo Mountain States Genetic Collaborative logo South Eastern Region Collaborative logo

What’s New

IBEM-IS has passed the 1,900 participant mark!
As of January 11, 2016, 1,949 participants representing 41 conditions have data entered into the IBEM-IS. Of those 1,949 participants, 1,364 were identified by NBS. Hyperphe/PKU has the largest number of enrollees (465) closely followed by MCAD (351), Biotinidase (208) and Galactosemia (189). Four other conditions have data for more than 50 participants: VLCAD (90), SCAD (66), PROP (60) and MSUD (56).

Important Dates

  • Quarterly Reports for quarter ending 02.29.2016 are due no later than 03.31.2016
    • Quarterly Enrollment reports can be found in your center folder. Click on the Q4 Tab to enter your data for the quarter ending 02.29.2016.
      • IBEMC > IBEMC Centers > Your Center > Quarterly Reports > Y5 > Your Center Y5 Enrollment Report
    • IBEMC > IBEMC Centers > Your Center > Quarterly Reports > Y5 > Your Center Y5 Enrollment Report
  • A special meeting targeting Site Co-Is is scheduled for Wednesday, February 17th, 2016 @ 10 am ET. Please visit SharePoint to obtain your agenda and meeting materials
  • Regular meetings will resume in March 2016 and continue to occur the 3rd Friday monthly @ 2:00 pm ET.
  • ACMG Annual Clinical Genetics Meeting is March 8th-12th, 2016 in Tampa, FL
    • Look for the platform presentation: The Inborn Errors of Metabolism Information System (IBEM-IS): Diagnostic Confirmation, Molecular Testing and Clinical Status in Individuals Identified with Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency by Expanded Newborn Screening
    • And the poster: An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)
  • American Society of Human Genetics Annual Meeting is October 18 – 22, 2016 in Vancouver, Canada
    • Abstract Deadline is June 2, 2016
  • National Society of Genetic Counselors Annual Education Conference is September 28 – October 1, 2016 in Seattle, Washington
    • Abstract Deadline is May 12, 2016
  • Keep current with NBSTRN: NBSTRN Newsletter