An Exploration of Genetic Counselors’ Needs and Experiences with Prenatal Chromosomal Microarray Testing

Abstract

Because of the higher yield over traditional chromosomal analysis, chromosomal microarray analysis (CMA) is being used increasingly in prenatal diagnosis. Unfortunately, the clinical implication of many copy number variants found on prenatal CMA is uncertain, complicating genetic counseling. Recognizing that uncertain results will be encountered frequently as more of the genome is assayed prenatally, we set out to understand the experiences and needs of genetic counselors when counseling patients about uncertain prenatal microarray results, their comfort with various aspects of prenatal genetic counseling, and their interest in additional education and training about prenatal microarray testing. We first interviewed 10 genetic counselors about their experiences of providing pre- and post-test genetic counseling about prenatal CMA. Based on the findings from the counselor interviews, we developed items for a survey to assess the prevalence of genetic counselors’ attitudes towards, experience and comfort with, and educational needs regarding prenatal CMA. Based on surveys completed by 193 prenatal genetic counselors, we found that when there is an uncertain CMA result, only 59% would be comfortable providing genetic counseling and only 43% would be comfortable helping a patient make a decision about pregnancy termination. Being less comfortable was associated with seeing fewer patients having prenatal CMA testing. Respondents expressed a high degree of interest in additional education about prenatal CMA and counseling about uncertain results. Further genetic counselor education and training aimed at improving counselors’ personal comfort with uncertain results and communicating about them with patients is needed.

Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing

“…Bernhardt and colleagues (2014) recently showed that many other counselors share the initial discomfort about uncertain prenatal microarray results (Bernhardt, Kellom, Barbarese, Faucett, & Wapner, 2014). I have counseled for chromosome microarrays for over eight years and while the possibility of uncertain results has decreased, it is still a possibility.…”

It is Time: A Commentary on “An Exploration of Genetic Counselors’ Needs and Experiences with Prenatal Chromosomal Microarray Testing”

“…And yet, empirical evidence indicates that we continue to operate out of a "teaching" role (Meiser et al 2008). Studies such as Bernhardt et al (2014) suggest that a predominantly teaching role is not going to be sustaining for either our patients, or ourselves. Uncertainty is just one of the many psychological issues that will continue to emerge with the increasing utilization of complex genetic technologies.…”

“…In summary, it is time for genetic counselors to be reminded about and brought back to the counseling in genetic counseling. Bernhardt et al (2014) study demonstrates that genetic counselors are grappling with the psychosocial uncertainty that technologies such as CMA bring to not only their patients, but themselves. As our profession continues to define and document our unique value within healthcare, we must continue to foster our counseling identity as this, along with our genetic expertise, sets us apart from other specialties.…”

“…I also strongly believe that we need to acknowledge the inevitable impact that addressing these psychosocial needs has on us as counselors. Thus, I was struck by the way in which Bernhardt et al (2014) findings support these very notions.…”

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

“…32 As a means to provide education to women, various modalities to evaluate risk and to inform women about prenatal tests and support decision-making have been developed and evaluated, 33–36 and a method for rapidly creating and updating educational materials has been called for. 8 Such resources may support the work of the primary obstetrical care provider in providing pre-test counseling and follow-up of genetic test results.…”