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Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
Author(s) -
Kirk Edwin P.,
Delatycki Martin B.,
Laing Nigel
Publication year - 2022
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12505
Subject(s) - newborn screening , human genetics , biology , genetics , genetic testing , population , medical genetics , genetic counseling , phenotype , medical screening , inborn error of metabolism , bioinformatics , medicine , gene , gynecology , endocrinology , environmental health
Reproductive genetic carrier screening (RGCS) has a history spanning more than 50 years, but for most of that time has been limited to screening for one or a few conditions in targeted population groups. The advent of massively parallel sequencing has led to rapid growth in screening for panels of up to hundreds of genes. Such panels typically include numerous genes associated with inborn errors of metabolism (IEM). There are considerable potential benefits for families from screening, but there are also risks and potential pitfalls. The IEM community has a vital role to play in guiding gene selection and assisting with the complexities that arise from screening, including interpreting complex biochemical assays and counselling at‐risk couples about phenotypes and treatments.