After genomic testing results: Parents' long-term views.

Area of Science:

• Genetics
• Pediatrics
• Psychology

Background:

• Many parents seek whole-genome sequencing for undiagnosed genetic conditions in children.
• The impact of genomic testing extends beyond diagnosis, influencing parental experiences.

Purpose of the Study:

• To quantify parental decisional regret after whole-genome sequencing.
• To characterize long-term parental experiences and unmet needs post-genomic testing.

Main Methods:

• 121 parents completed the Decisional Regret Scale 4 weeks post-results.
• 32 parents participated in semi-structured interviews a median of 7 months post-results disclosure and counseling.

Main Results:

• Most parents reported no or mild decisional regret regarding whole-genome sequencing.
• Parents whose children received no genetic diagnosis showed slightly higher decisional regret.
• Key themes included lack of decisional conflict, relief/uncertainty with diagnosis, disappointment without diagnosis, and need for time to process results.

Conclusions:

• Parents generally do not regret pursuing whole-genome sequencing for their children.
• Long-term post-test genetic counseling is crucial for parental adaptation and planning, regardless of diagnosis outcome.