Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

Edwin P Kirk; Martin B Delatycki; Nigel Laing

doi:10.1002/jimd.12505

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

J Inherit Metab Dis. 2022 Sep;45(5):902-906. doi: 10.1002/jimd.12505. Epub 2022 May 9.

Authors

Edwin P Kirk^{1

2

3}, Martin B Delatycki⁴, Nigel Laing^{5

6}

Affiliations

¹ Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.
² New South Wales Health Pathology Randwick Genomics Laboratory, Randwick, New South Wales, Australia.
³ School of Women's and Children's Health, University of New South Wales, Randwick, New South Wales, Australia.
⁴ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
⁵ Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia.
⁶ Department of Diagnostic Genomics, PathWest Laboratory Medicine, Department of Health, Nedlands, Western Australia, Australia.

Abstract

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.

Keywords: X-linked; autosomal recessive; carrier screening; inborn errors; metabolism.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Genetic Carrier Screening
High-Throughput Nucleotide Sequencing
Humans
Mass Screening
Metabolism, Inborn Errors* / diagnosis
Metabolism, Inborn Errors* / epidemiology
Metabolism, Inborn Errors* / genetics
Phenotype