Informed Consent for Routine Genetic Screening: Realistic or Idealistic?

Informed Consent for Routine Genetic Screening: Realistic or Idealistic?
Blair Stevens, Chelsea Wagner, Meagan Choates, Jacqueline Harkenrider, Samantha Montgomery, Shannon Mulligan, Aarti Ramdaney, Lea Jenna
American Journal of Obstetrics & Gynecology, 1 January 2023
Abstract
Objective
Aneuploidy and carrier screening should be offered to in the context of pretest education about the benefits and limitations of screening. We aimed to assess informed decision making regarding non-invasive prenatal testing (NIPT) and carrier screening (CS) using a validated Multi-Dimensional Measure of Informed Choice tool, which includes a knowledge scale, attitude scale and test behavior.
Study Design
Knowledge and satisfaction were assessed in a low risk cohort of patients who received pretest education for routine prenatal genetic screening through two different service models. Participants underwent either a consult with a genetic counselor (GC) (n=100) or utilized an interactive online module created by a team of GCs (n=115). Results from each cohort were compared to assess for differences in self reported informed decision making and knowledge.
Results
Overall scores regarding knowledge of NIPT and CS were higher in the GC-cohort (Mdn=84%, range=41-96%) compared to participants who utilized the online module (Mdn= 70%, range= 24-79%), demonstrating a significant difference in knowledge between these two groups (p=0.02). The majority of both groups expressed satisfaction with their pretest education regardless if it was through a GC (Mdn=97%, range=94-99%) or online education module (Mdn= 93%, range= 89-99%). There was no significant difference between the cohorts and their reported satisfaction (p=0.06). The majority of both cohorts believed they made informed decisions regarding their genetic screening.
Conclusion
Significantly lower knowledge scores do not appear to affect participant perception of informed decision making or satisfaction in a low risk patient population. We argue that knowledge based questions skew the standard of achieving informed consent to information seeking or highly educated patient populations. Our study supports that accessible information and autonomous decision making were sufficient for patients to feel satisfied and informed about their decision. Informed consent measures should be reconsidered with a diverse patient population in mind.