PPM - Carrier Screening-Introduction and References

Introduction and References

Pdf Summary

This document is a summary of information on carrier screening, specifically aimed at geneticists who offer preconception or prenatal carrier screening. Carrier screening has been endorsed by societies such as the American College of Medical Genetics and Genomics and the American Congress of Obstetricians and Gynecologists. Traditionally, carrier screening has been based on ethnicity, but with the advancement in screening protocols, expanded carrier screening has become popular. <br /><br />There has been controversy regarding the disorders included in commercial carrier screen panels. The American College of Medical Genetics and Genomics suggests that disorders listed on a carrier screening panel should meet certain criteria such as being conditions for which prenatal diagnosis would be desired, appropriate counseling for adult onset conditions, and having known mutations, allele frequencies, and residual risk. In addition, labs offering testing should follow specific guidelines. <br /><br />Pre and posttest counseling is important and the ACOG Committee Opinion 690 states that ethnic based, pan-ethnic, or expanded carrier screening are all appropriate options for prenatal/preconception carrier screening. However, practitioners are encouraged to have a consistent approach. <br /><br />The references cited in this document include position statements and guidelines from respected organizations in the field such as the American College of Medical Genetics and Genomics and the American College of Obstetricians and Gynecologists. These references provide further information and guidance on carrier screening in the context of genomic medicine.

Keywords

carrier screening

geneticists

preconception

prenatal

expanded carrier screening

disorders

counseling

testing

guidelines

genomic medicine