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New Paper Reveals Need for Better Counseling Approaches in Case of Unclear Prenatal CMA Results


The discovery of variants of unknown significance during a prenatal chromosomal microarray analysis can create headaches for genetic counselors who are used to delivering certain results to patients, according to the authors of a recent paper.

As described in the Journal of Genetic Counseling last week, a team of researchers from the Hospital of the University of Pennsylvania, Geisinger Health System, and Columbia University interviewed 10 genetic counselors about their experiences of providing pre- and post-test genetic counseling about prenatal CMA. They then used those interviews to develop a survey about prenatal CMA which was completed by 193 genetic counselors.

They found that in the event of an uncertain CMA result, only 59 percent of the respondents would be comfortable providing genetic counseling, and just 43 percent would be comfortable helping a patient make a decision about pregnancy termination.

The counselors surveyed also expressed interest in additional education about prenatal CMA and counseling about uncertain results. The authors concluded that there is a need for additional genetic counselor education and training aimed at both improving their comfort with uncertain results and discussing such findings with patients.

Lead author Barbara Bernhardt told BioArray News this week that the project is part of a larger study of prenatal CMA that is funded by the US National Institute of Child Health and Human Development, of which Ron Wapner, director of maternal fetal medicine at Columbia University Medical Center, is principal investigator. NICHD awarded the CUMC project $5 million last year to support a five-year, follow-on study to an earlier project that ultimately determined arrays to be more informative that traditional karyotyping in a prenatal setting.

The results of that project were featured in the New England Journal of Medicine in December 2012, and inspired professional organizations, such as the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine to recommend prenatal CMA as a first-line test in certain circumstances.

Bernhardt and fellow researchers already published one paper, focused on patients' response to CMA, last year. And while several other studies have researched counseling issues in the past several years, Bernhardt said that the new JGC paper is different in that it focuses on the experiences of counselors, not patients.

"I have done other research in the past that suggests that dealing with uncertainty is a particular problem for many, including genetic counselors," said Bernhardt of the impetus for the study. "I was concerned that we may not be doing as good a job as we can when we try to help women who are receiving really confusing kinds of results."

Apparently, Bernhardt was right. More than half of those surveyed believed they could do a better job counseling women who receive uncertain array findings.

"I think that's telling," said Bernhardt. "We need to do a better job in training genetic counselors when they are in graduate school and also provide some post-graduate training, education, and support for counselors," she said.

Bernhardt said that counselors frequently "go back to the literature with the notion that if they dig deep enough, they will find the information they are looking for, when in fact we are dealing with a situation where there is no information." Counselors instead need to learn to accept that uncertainty and move on to helping their patients, helping them "incorporate that uncertainty into any decision that they make" about their pregnancies, she said.

"I think genetic counselors feel threatened," Bernhardt added. "We feel our expertise is threatened when we don't have an answer because we are accustomed to having answers for patients."

According to Bernhardt, it is up to professional associations, especially the National Society of Genetic Counselors, to bear the responsibility in educating counselors about how to best interpret and relay unclear results. For her part, Bernhardt said she will work with partners toward developing education modules for genetic counselors.

She also will continue to interview women undergoing CMA, as well as their partners as part of her study. "There is very little available to figure out what men are going through and what they need," she said, adding that she and fellow researchers are also surveying more women who have undergone prenatal CMA to "find out what their needs are in terms of counseling and information."

While prenatal CMA may present more challenges for genetic counselors, Bernhardt warned that it will only become more complex, noting that noninvasive prenatal CMA is currently in development, and that some laboratories have demonstrated that they can generate genome-wide genetic profiles for fetuses based on fetal DNA obtained from maternal plasma.

"There is discussion of arrays moving into noninvasive prenatal testing which could really be a nightmare for some counselors," said Bernhardt. "And with sequencing, these issues are only going to get worse."