MELISSA SHELKEY
Capstone Project Committee: Samantha Caldwell, M.S., CGC; Karen Corneliussen, M.S., CGC; Lauren Doyle, MGC, CGC
Objective: Genome-wide noninvasive prenatal screening (NIPS) is an emerging technology. The purpose of this study is to determine providers’ perspectives and experiences with genome-wide NIPS as it relates to the patterns of ordering the test, perceptions of ethical concerns and test limitations, experiences with ambiguous results, and perspectives on its clinical utility and reliability.
Methods: A survey was developed and distributed to prenatal genetic counselors (N=650) and maternal fetal medicine (MFM) physicians (N=790), and responses (N=112) were analyzed and coded for themes.
Results: Nearly half (47.5%) of participants had ordered genome-wide NIPS, and most believed the testing has clinical utility (61.9%), is reliable (74.2%), and has significant benefits (69.4%). However, 64.8% had ethical concerns and 82.7% had concerns about test limitations that influenced their practice. Among providers who had not ordered the test, the most common reason (33.3%) for not doing so was the belief that more research was needed. As with standard NIPS and NIPS with microdeletions, the indication for which genome-wide NIPS was most often ordered was advanced maternal age. Perceived benefits of the test include its broader scope and its utility as a situation-specific alternative to diagnostic testing for patients who would never consider diagnostic testing in pregnancy.
Conclusions: Participants perceived a need for additional studies to determine validity and test performance of genome-wide NIPS. Additionally, education may be beneficial for providers to combat misconceptions and reduce access barriers. Properly educating and counseling patients about the test is imperative yet challenging. Most participants reported that this test has clinical utility, and its scope and noninvasive nature may position it as a clinically useful screen for patients who want more information than what is offered by standard NIPS, particularly in the case of a known familial translocation, but would not consider diagnostic testing.