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

Abstract

OBJECTIVE Chromosome microarray analysis (CMA) 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 undergo genetic counseling prior to testing, but little is known about women’s specific pre- and post-testing informational needs, as well as their preference for return of various types of results. METHODS The present study surveys 199 prenatal genetic counselors who have counseled patients undergoing CMA 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. RESULTS Counselors and patients agree on many aspects, although findings indicate patients consider all available information very important, while genetic counselors give more varying ratings. CONCLUSION Counseling sessions would benefit from information personalized to a patient’s particular needs and a shared decision-making model, so as to reduce informational overload and avoid unnecessary anxiety. Additionally, policies regarding the return of various types of results are needed.

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

“…Researchers recruited pregnant women through antenatal testing centers collaborating with Columbia University on an NIH-funded project “Prenatal Microarray Follow-Up Study.” Shortly after receiving microarray results, women received a pamphlet inviting them to complete a short online survey eliciting demographic information, test results, and informational needs (Walser et al 2015). Women indicating abnormal or uncertain results responded to questions about the variant, intent to continue the pregnancy, and interest in being interviewed.…”

“…Despite these complexities, prospective parents often want all available information about their pregnancy, (Norton et al 2014; Turbitt et al 2015; Walser et al 2015; Willis et al, 2015; van der Steen et al 2015) although this may vary depending on culture and values (Alsulaiman et al 2012; Nahar et al 2013). When uncertain results are found, information may be poorly understood (Hillman et al 2015) and parents often experience distress (Bernhardt et al 2013; Werner-Lin et al 2015).…”

What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis

“…Using a survey distributed to genetic counsellors in the United States, Walser et al . have recently showed that participants found it important to disclose all types of results from prenatal CMA, including risks for adult‐onset conditions (treatable and non‐treatable), carrier status, and VOUS …”

Pre- and post-test genetic counseling for chromosomal and Mendelian disorders

“…Couples generally want as much information as possible about the implications of the finding. 99 However, when informed about an abnormal result, couples are generally in a state of shock, and several visits or repeated contact with the family may be needed in order to adequately educate the family about the implications of the finding.…”

“…At present, there are few guidelines for handling such findings, and policies are needed about returning unexpected or uncertain findings that take in to account the priorities multiple stakeholders, including pregnant women and their partners. 99, 102 Clinicians should be aware of the differences in CMA platforms available from targeted panels that reduce the likelihood of a VOUS to more comprehensive high resolution, whole genome arrays.…”