Thesis

Genetic counselors' perspectives of non-invasive prenatal screening (NIPS) for sex chromosome anomalies

In 2013, Non-invasive Prenatal Screening (NIPS) for high-risk pregnancies began to include the ability to screen for sex chromosome anomalies (SCAs). This screening poses many challenges for genetic counselors due to the variable nature of SCAs, the limited validation of test performance, and the high potential for false positives due to maternal contribution. The purpose of this study was to examine genetic counselors’ views on issues surrounding the use of NIPS to screen for SCAs, gather their opinions on expanding it to the general population, and identify any variables that may have an impact on genetic counselors’ views of the tests’ capability. A 42-question survey comprised of both closed and open-ended questions was designed to illicit demographic information and opinions from current prenatal genetic counselors via the NSGC list-serve. In total, 163 counselors responded to the survey. A statistically significant relationship was found between whether a counselor chooses multiple companies to provide NIPS for their patients or just one company and their perceptions of test utility and accuracy. Qualitative responses also indicated that counselors have a high consensus about the important topics to discuss during pre-test counseling sessions and again in post-test sessions, including features of SCAs, the capabilities of NIPS to screen for SCAs, and why a false positive might occur. 74% of counselors surveyed have positive feelings about test utility, and 52.1% agree with potential expansion to the general population. However they also expressed many concerns and described significant challenges they face when counseling patients about SCA screening via NIPS, including how to adequately prepare patients for SCA screening when they are primarily focused on learning fetal sex and how to convey the variable spectrum of manifestations of SCAs. Other challenges included lack of information from NIPS laboratories, patient misunderstandings about SCA phenotypes, and patients who were not properly counseled by their physician about SCA screening before undergoing NIPS.

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