Abstract
The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic counseling was provided (and by whom), whether genetic testing was performed, and consanguinity. Genetic counseling was provided to families 95.8% of the time and in 68.6% of cases by a genetic counselor. Genetic testing was performed on 68.0% of subjects, with usage highest for fatty-acid-oxidation disorders (85.1%). The rate of consanguinity was 2.38%. Within this large national collaborative there is a high frequency of genetic counseling, though in one-third of cases a genetic counselor has not been involved. Additionally, while metabolic conditions have historically been diagnosed biochemically, there is currently high utilization of molecular testing suggesting DNA testing is being incorporated into diagnostic assessments - especially for fatty-acid-oxidation disorders where the underlying genotype helps predict clinical presentation.
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Acknowledgments
NIH: Research reported in this publication was supported by the Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD), National Institutes of Health under award number 5 RO1 HD069039 05. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NBSTRN: This research was facilitated by the Newborn Screening Translational Research Network (“NBSTRN”), which is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (HHSN275201300011C). HRSA: This research is facilitated by the Health Resource and Services Administration (HRSA) Maternal and Child Health Bureau (MCHB) Regional Genetic and Newborn Screening Services Collaboratives, Heritable Disorders Program through grants to: Region 2 - New York Mid-Atlantic Consortium for Genetic and Newborn Screening Services (NYMAC) (H46MC24094), Region 4 Midwest Genetics and Newborn Screening Collaborative (H46MC24092), Region 5 Heartland Genetic Services Collaborative (H46MC24089), and Region 6 - Mountain States Genetics Regional Collaborative (H46MC24095).
University of Colorado School of Medicine and Children’s Hospital Colorado (Janet Thomas, Melinda Dodge); Emory University Department of Human Genetics (Rani Singh, Sangeetha Lakshman, Katie Coakley, Adrya Stembridge); University of Iowa Health Care (Alvaro Serrano Russi, Emily Phillips) Ann and Robert H. Lurie Children’s Hospital of Chicago (Barbara Burton, Clare Edano, Sheela Shrestha), University of Illinois (George Hoganson, Lauren Dwyer); Indiana University (Bryan Hainline, Susan Romie, Sarah Hainline); University of Louisville (Alexander Asamoah, Kara Goodin, Cecilia Rajakaruna, Kelly Jackson); Johns Hopkins (Ada Hamosh, Hilary Vernon, Nancy Smith); University of Michigan (Ayesha Ahmad, Sue Lipinski); Wayne State University Children’s Hospital of Michigan (Gerald Feldman); University of Minnesota (Susan Berry, Sara Elsbecker); Minnesota Department of Health (Kristi Bentler), University of Missouri (Esperanza Font-Montgomery, Dawn Peck); Duke University (Loren D.M. Pena, Dwight D. Koeberl, Yong-hui, Jiang, Priya S. Kishnani); University of Nebraska (William Rizzo, Machelle Dawson, Nancy Ambrose); Children’s Hospital at Montefiore (Paul Levy); New York Medical College (David Kronn); University of Rochester (Chin-to Fong, Kristin D’Aco, Theresa Hart); Women’ and Children’s Hospital of Buffalo (Richard Erbe, Melissa Samons); Cincinnati Children’s Hospital Medical Center (Nancy Leslie, Racheal Powers); Nationwide Children’s Hospital (Dennis Bartholomew, Melanie Goff); Oregon Health and Science University (Sandy vanCalcar, Joyanna Hansen); University of Pittsburgh School of Medicine (Georgianne Arnold, Jerry Vockley); Children’s Hospital of Pittsburgh of UPMC (Cate Walsh-Vockley); Medical College of Wisconsin (William Rhead, David Dimmock, Paula Engelking, Cassie Bird, Ashley Swan); University of Wisconsin (Jessica Scott Schwoerer, Sonja Henry); West Virginia University (TaraChandra Narumanchi, Marybeth Hummel, Jennie Wilkins); Sanford Children’s Specialty Clinic (Laura Davis-Keppen, Quinn Stein, Rebecca Loman); Michigan Public Health Institute (Cynthia Cameron, Mathew J. Edick, Sally J. Hiner, Kaitlin Justice, Shaohui Zhai).
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Quinn P. Stein, Cate Walsh Vockley, Mathew J. Edick, Shaohui Zhai, Sally J. Hiner, Rebecca S. Loman, Laura Davis-Keppen, Taylor A. Zuck, Cynthia A. Cameron, and Susan A. Berry declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
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No animal studies were carried out by the authors for this Article.
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Stein, Q.P., Vockley, C.W., Edick, M.J. et al. An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC). J Genet Counsel 26, 1238–1243 (2017). https://doi.org/10.1007/s10897-017-0100-0
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DOI: https://doi.org/10.1007/s10897-017-0100-0