Genetic Testing Forum: Advances in Newborn Screening


Mayo Medical Laboratories' Genetic Testing Forum, Advanced in Newborn Screening. This forum was be held September 8, 2015.

This presentation will focus on the current and future status of newborn screening in the United States with emphasis on performance improvement and on emerging issues related to the expansion of the Health and Human Services (HHS) recommended uniform screening panel (RUSP) of conditions screened for by analysis of markers in dried blood spots.


  • Appreciate the current status of newborn screening in the United States
  • From R4S to CLIR: Acquire familiarity with the second generation of a web-based multivariate pattern recognition software available for performance improvement of post-analytical interpretation of newborn screening results
  • Recognize progress and challenges brought up by recent and likely imminent additions to the RUSP


Piero Rinaldo, M.D., Ph.D.

Piero Rinaldo, M.D., Ph.D.
Professor of Laboratory Medicine
T. Denny Sanford Professor of Pediatrics
Mayo Clinic, Rochester, Minnesota

Dr. Piero Rinaldo serves as co-director of the Biochemical Genetics Laboratory and as DLMP vice-chair of Information Management. Dr. Rinaldo is a Professor of Laboratory Medicine and the T. Denny Sanford Professor of Pediatrics; he also holds joint appointments in the Department of Pediatrics and Adolescent Medicine and in the Department of Medical Genetics. His clinical interests include the laboratory diagnosis of inborn errors of metabolism, newborn screening, and metabolic disorders misdiagnosed either as child abuse or sudden and unexpected death. Among others, he is the recipient of the 2013 Robert Guthrie Award from the International Society for Neonatal Screening and of the 2015 Colonel Harland D. Sanders Lifetime Achievement Award in Genetics from the March of Dimes Birth Defects Foundation.


The genetics forums are applicable to geneticists and physicians, genetic counselors, laboratory directors and staff, nurses, and scientists.

The Genetic Testing Forum series is presented as an interactive audio and Web conference. Participants will receive an e-mail prior to each program which will contain a link to download the instructions for viewing the program. This link will also include the presentation handout. The presentation may also be viewed via Level 3 Communications Live Meeting technology. Level 3 Communications requires Internet Explorer 5.0 or higher.

There is no registration fee to participate. Note: Registration is no longer available.


Kelley Schreiber

Kelley Schreiber is a Marketing Channel Manager at Mayo Medical Laboratories. She is the principle editor and writer of Insights and leads social media and direct marketing strategy. Kelley has worked at Mayo Clinic since 2013. Outside of work, you can find Kelley running, traveling, playing with her new kitten, and exploring new foods.