Dr. Rinaldo is currently interested in the clinical implementation of multivariate pattern recognition software that improves the interpretation of complex profiles of laboratory results.
The goal is to integrate all clinically significant results available to diagnose a particular condition in a single score in a manner that is objective, evidence-based, and open to worldwide collaboration and data sharing. The software produces post-analytical tools that are available on demand through a web interface.
This approach was first applied to newborn screening, and has grown to involve 168 programs in 50 countries, and the creation of the largest database of true positive cases (>14,000 cases, almost 1 million data points).
- Laboratory quality improvement of newborn screening
- Laboratory quality improvement of Clinical Biochemical Genetics
- Dynamic, on-going clinical validation of new laboratory tests
- Validation of pediatric reference ranges based on a continuum set of data
Significance to patient care
Currently, the approach outlined above has resulted in performance metrics (low false positive rate, high positive predictive value) that are 10 times better than the national average for newborn screening of metabolic disorders by tandem mass spectrometry.
- Board of Directors, American College of Medical Genetics (ACMG), 2007-2013
- Vice-President of Laboratory Genetics, American College of Medical Genetics (ACMG), 2009-2013
- Member, HHS Secretary Advisory Committee for Heritable Disorders in Newborns and Children, 2004-2010
- T. Denny Sanford Professor of Pediatrics, 2007
- Maxwell J. Schleifer Distinguished Service Award, Disability Awareness Night sponsored by Major League Baseball (Minnesota Twins) and Exceptional Parent (EP), 2003