Preference for secondary findings in prenatal and pediatric exome sequencing.

ABSTRACT:

Objective

We aimed to determine the frequency of accepting secondary findings in families undergoing exome sequencing in prenatal and pediatric settings.

Methods

This was a secondary analysis of prospectively enrolled patients undergoing trio exome sequencing for congenital anomalies or developmental disorders in prenatal and pediatric settings, in which families were offered receiving secondary findings (initially assessed in the proband and, if identified, then in the parents). The primary outcome was frequency of accepting secondary findings. Secondary outcomes included frequency of acceptance in prenatal versus pediatric settings, and sociodemographic differences between those who accepted versus declined secondary findings.

Results

There were 682 families include

SUBMITTER: Swanson K 

PROVIDER: S-EPMC8630094 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature