Ethical and counseling challenges in prenatal exome sequencing

Area of Science:

• Genetics
• Bioethics
• Reproductive Medicine

Background:

• Prenatal diagnosis traditionally relies on standard genetic testing.
• Whole exome sequencing (WES) offers a more comprehensive genetic analysis during pregnancy.
• The introduction of WES in prenatal settings necessitates evaluation of associated ethical and counseling considerations.

Purpose of the Study:

• To identify and describe specific ethical and counseling challenges encountered in prenatal whole exome sequencing.
• To provide insights from the UNC-Chapel Hill Prenatal Exome Sequencing Study.

Main Methods:

• A descriptive study reviewing cases from the UNC-Chapel Hill Prenatal Exome Sequencing Study.
• Inclusion of mother-father-fetus trios with pregnancies diagnosed with structural anomalies and normal standard genetic testing.
• Case review by a research team including a bioethicist to identify counseling challenges, with consensus-based selection of illustrative cases.

Main Results:

• Four illustrative cases highlighted significant challenges.
• Identified challenges include: ensuring adequate informed consent and counseling, interpreting prenatal variants, managing subsequent pregnancies, addressing cases with unidentified genetic etiologies, and handling parental secondary findings.

Conclusions:

• Prenatal whole exome sequencing, while powerful for diagnosis, presents multifaceted ethical and counseling challenges.
• Clinicians must understand these implications and parental perceptions for responsible implementation of genomic medicine in prenatal care.