Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing

Chromosome microarray analysis is poised to take a significant place in the prenatal setting given its increased yield over standard karyotyping, but concerns regarding ethical and counseling challenges remain, especially associated with the risk of uncertain and incidental findings. Guidelines recommend patients receiving prenatal screening to undergo genetic counseling prior to testing, but little is known about women's specific pre-testing and post-testing informational needs, as well as their preference for return of various types of results.

The present study surveys 199 prenatal genetic counselors who have counseled patients undergoing chromosome microarray analysis testing and 152 women who have undergone testing on the importance of understanding pre-test information, return of various types of results, and resources made available following an abnormal finding.

Counselors and patients agree on many aspects, although findings indicate patients consider all available information very important, while genetic counselors give more varying ratings.

Counseling sessions would benefit from information personalized to a patient's particular needs and a shared decision-making model, to reduce informational overload and avoid unnecessary anxiety. Additionally, policies regarding the return of various types of results are needed. © 2015 John Wiley & Sons, Ltd.