title: Inborn Errors of Metabolism: the metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM).
abstract: Thank you for honoring me by allowing me to serve as president of the 11th International Congress of Inborn Errors of Metabolism (ICIEM). The science brought by the IEM community to the Congress was quite impressive and demonstrated the quality of research within this community. In this address, I will consider briefly the history of IEMs to determine how we have arrived where we are, and will spend more time ascertaining our place in the current biomedical community and our role in determining the future of personalized medicine. In the 1950s-1970s new tools were added to expand our ability to interrogate the metabolome and the result was an explosive increase in the number of IEMs. This set the stage for expanded newborn screening (NBS) by tandem mass spectrometry (MS/MS) to identify these patients and to intervene pre-symptomatically. The complexity of the metabolome has led us to utilize the mathematical algorithms of systems biology to reduce high dimensionality data to low dimensionality output. However, the metabolome does not exist in isolation and we must learn how to integrate the metabolome with other xomics. The metabolome is our world and the IEM community has much to share with the broader xomics communities by integrating what we have learned with the other xomics communities. They are seeking access to the metabolome as a closer measure of phenotype, and we are already extremely comfortable and competent in the metabolomic space. But we should not be insular in our occupation of this space. NBS should be the model for personalized medicine, because it is already functioning as testing system for predictive, preventive and personalized care. We have been working in the area of NBS for nearly a half century and have many lessons learned that will be valuable to the practitioners of personalized medicine - lessons that they should not have to rediscover. We must embrace the international IEM community to meet population trends and to improve the care for individuals - children and adults - with IEMs. Demographic projections indicate the countries with largest population growth during the next four decades will be in Asia and we need to work collaboratively to build capacity in the IEM community in Asia and beyond to other underserved regions of the world.
authors.affiliation: Mattel Children's Hospital UCLA, MDCC 22-412, David Geffen School of Medicine at UCLA, 10833 Le Conte Ave, Los Angeles, CA 90095-1752, USA. emccabe@mednet.ucla.edu
authors.forename: Edward R B
authors.initials: ER
authors.lastname: McCabe
mesh_terms: D000328:Adult; D002648:Child; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D055442:Metabolome; D015997:Neonatal Screening; D010641:Phenotype; D057285:Precision Medicine; D053719:Tandem Mass Spectrometry