Clinically relevant findings on expanded carrier screening

Our colleague in the US Pam, is co-author on a key paper that highlights that nearly 2% of donor applicants were identified as having potentially significant health risks on the basis of their extended carrier screening (ECS) results, and most individuals had no clinical manifestations related to these findings. 

This illustrates the unique challenges related to ECS in third-party reproduction for gamete providers, recipients, and their healthcare providers. A collaborative, multidisciplinary approach is necessary to help mitigate risks to donor offspring and maximize patient experience. Informed consent and access to a trained genetics professional are paramount when facilitating ECS on donor applicants and disseminating results to recipients.