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Videos Can Bolster Exome Sequencing Knowledge in Conjunction With Genetic Counseling

COLUMBUS, OHIO (GenomeWeb) — Educational videos can help parents better understand what exome sequencing is, according to Julia Wynn, a genetic counselor at Columbia University Medical Center.

As part of the Technologies for Exome Education and Health (TEEcH) study, she and her colleagues retrospectively surveyed the parents of children who underwent clinical exome sequencing about their experience and prospectively examined whether watching educational videos bolstered parents' knowledge of exome sequencing. She described her work during a lecture at the National Society of Genetic Counselors annual conference in Columbus, Ohio, from which she'd received a fellowship.

The goal of the videos, Wynn said, is not to replace genetic counselors, but to complement them. There's a nationwide shortage of genetic counselors in the US, she noted, and those who do see patients have to grapple with shortened counseling session times combined with ever increasing amounts of information to provide.

"We really need novel ways to address this," Wynn said.

For the first part of TEEcH, she and her colleagues retrospectively surveyed parents of children who'd undergone exome sequencing. Wynn noted that the respondents were mostly mothers, and were whiter and had higher education levels than the patient population at large at Columbia.

As part of the survey, the parents were asked about their understanding of their child's exome sequencing results — whether there was a positive, negative, or uncertain finding. Their responses were then compared to the clinicians'.

"For the most part, people do pretty well," Wynn said.

However, 21 percent of respondents still had some misunderstanding of the results. Some of those cases, Wynn said, could reflect the complexity of genetic testing. For instance, a parent might have said their child's results were uncertain even when there was a positive genetic result because the child's prognosis was uncertain. Likewise, they could have said their child's results were uncertain when they were negative because they was still a suspicion that there was a genetic factor at play though it wasn't yet detected.

Parents were also largely satisfied with their genetic counseling experience and decision regarding seeking exome sequencing for their child, Wynn's survey found. Most said their genetic counseling session was important and that they had made a decision that was right for them.

Wynn noted that parents tended to have said they had better experiences with genetic counselors that had been practicing for five or more years, though there was no difference in parental understanding between those who'd seen a newer versus a more experienced genetic counselor. The better experience could be due to differences in newer counselors' comfort with providing psychosocial support.

For the second part of the study, Wynn and her colleagues developed educational videos that, for instance, introduced exome sequencing or secondary findings. The videos relied on pictures and analogies to explain different concepts.

Parents coming into counseling sessions were randomized to either be invited to watch the videos or not. Genetic counselors then assessed parents' understanding of the concepts as compared to controls, and parents recounted their experiences.

Though Wynn noted that her results were preliminary, she reported that genetic counselors found that parents who saw the videos were better informed. The parents likewise said that the videos helped them understand what exome sequencing was.

"These may be really helpful," Wynn said of the educational videos.

She added that while the parents said the videos helped them make their decision regarding exome sequencing, it was to a lesser degree. Wynn said this suggested there's still a role for genetic counselors. 

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