Informed decision-making about prenatal cfDNA screening: An assessment of written materials.

Objectives: The introduction of prenatal cfDNA screening for fetal aneuploidy and other genetic conditions has exacerbated concerns about informed decision-making in clinical prenatal testing. To assess the information provided to patients to facilitate decisions about cfDNA screening, we collected written patient education and consent documents created by laboratories and clinics.

Methods: Informed consent documents (IC) were coded by two independent coders. Each IC was assessed for readability, attention to elements of informed consent, and completeness of information about the test and the screened conditions.

Results: We found variance between IC produced by commercial laboratories versus those provided by local clinics or health care systems, and considerable variance among materials from all sources. "Commercial" IC were longer and written at a more difficult reading level than "non-commercial" IC, and were less likely to state explicitly that cfDNA only screens for certain conditions. About one-third of IC were combined with laboratory order forms. Though most IC recommended confirmatory testing for positive results, only about half clearly stated that results could be incorrect-including mentions of false positives or false negatives. About one-third of IC explicitly stated that cfDNA screening was optional. While nearly all IC from any source listed the conditions screened by the test, only about half of the IC included any phenotypic descriptions of these conditions. Few IC mentioned psychosocial considerations, and only one IC mentioned the availability of support groups for families of children with genetic conditions.

Conclusions: Based on our findings, we recommend that written and well-informed consent be sought before performing cfDNA screening, and we offer minimal and recommended standards for patient education and consent materials.