An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

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, Susan A. Berry, For The Inborn Errors Of Metabolism Collaborative

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1238-1243
Number of pages6
JournalJournal of Genetic Counseling
Volume26
Issue number6
DOIs
StatePublished - Dec 1 2017

Bibliographical note

Funding Information:
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 (BNBSTRN^), 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).

Publisher Copyright:
© 2017, National Society of Genetic Counselors, Inc.

Keywords

  • Consanguinity
  • Genetic counseling
  • Genetic testing
  • Inborn errors of metabolism
  • Newborn screening

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