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

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 evaluati...

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Bibliographic Details
Published in:Journal of genetic counseling 2017-12, Vol.26 (6), p.1238-1243
Main Authors: Stein, Quinn P., Vockley, Cate Walsh, Edick, Mathew J., Zhai, Shaohui, Hiner, Sally J., Loman, Rebecca S., Davis-Keppen, Laura, Zuck, Taylor A., Cameron, Cynthia A., Berry, Susan A.
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Clinical Psychology
Collaboration
Consanguineous marriage
Consanguinity
Deoxyribonucleic acid
DNA
Ethics
Fatty acids
Genetic counseling
Genetic Counseling - statistics & numerical data
Genetic screening
Genetic testing
Genetic Testing - statistics & numerical data
Genotypes
Gynecology
Human Genetics
Humans
Inborn errors of metabolism
Infant, Newborn
Male
Medical screening
Metabolism
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - genetics
Neonatal Screening - statistics & numerical data
Newborn screening
Original Research
Oxidation
Public Health
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Summary: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.
ISSN:1059-7700
1573-3599
DOI:10.1007/s10897-017-0100-0