MANAGEMENT OF VARIANTS OF UNCERTAIN SIGNIFICANCE IN DONORS AND DONOR-CONCEIVED INDIVIDUALS

Abstract

Advancements in genetic testing technology have increased not only our understanding of the molecular etiology of diseases, but also the complexity of interpreting human genetic variation. When a genetic variant that has an unknown effect on phenotype is identified, it is termed a variant of uncertain significance (VUS). Although genetic testing is a routine part of gamete donor eligibility and ongoing management, there are no professional guidelines regarding how VUSes should be managed when found in a gamete donor or donor-conceived offspring. This study illustrates how a gamete donor bank manages reports of VUSes in donor-conceived offspring.