AI Article Synopsis
- Clinicians have traditionally performed gene-by-gene carrier screening for specific genetic disorders, often tailored to certain ethnic groups, especially for couples planning pregnancies.
- Advances in next-generation sequencing have made it possible to screen for a broader range of genetic disorders more efficiently and at a lower cost.
- However, implementing these expanded screening technologies raises concerns, including the need for clarity on which disorders are tested, how to handle the nuances of certain conditions, and ensuring patients understand the concept of residual risk after negative results.
Article Abstract
For years, clinicians have offered gene-by-gene carrier screening to patients and couples considering future pregnancy or those with an ongoing pregnancy early in gestation. Examples include ethnic-specific screening offered to Ashkenazi Jewish patients and panethnic screening for cystic fibrosis and spinal muscular atrophy. Next-generation sequencing methods now available permit screening for many more disorders with high fidelity, quick turnaround time, and lower costs. However, instituting these technologies carries with it perils that must be addressed. The basis for the selection of disorders on expanded carrier screening panels should be disclosed. The information provided about disorders with mild phenotypes, variable expression, low penetrance, and/or characterized by an adult onset should be complete and transparent, allowing patients to opt out of receiving these test results. Patients also must be made aware of the concept of residual risk following negative test results. Laboratories have a duty to participate in and facilitate this information transfer.
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| http://dx.doi.org/10.1038/gim.2013.47 | DOI Listing |
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