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.


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