Penn Research Reveals Where Expectant Parents Turn When Doctors Lack Answers on Prenatal Genetic Health

Humans dislike uncertainty. So what happens when that ambiguity comes from designated “experts” and relates to the genetic health of an unborn child?

University of Pennsylvania researchers Meagan Rubel, Allison Werner-Lin, Barbara Bernhardt and a team from Penn’s Perelman School of Medicine sought to find out how expectant parents handled the news of an abnormal genetic result when the clinical-care team couldn’t explain what it meant for the unborn child. The researchers learned that patients looked for answers elsewhere, on social media and in spiritual communities, as well as from family members.

They published their findings in the journal Culture, Medicine and Psychiatry.

“We anticipate doctors will have expertise. When they don’t, we are creative in the ways we find information to help us make the best decision possible,” said Werner-Lin, an assistant professor in the School of Social Policy and Practice. “We sort through the available world views at our disposal to find those that meet our needs.”

Understanding this process has become increasingly important, as lower costs and greater acceptance from physicians and the public has increased the prominence of highly sensitive genetic testing during pregnancy. That likely means in the future, a higher percentage of the population will access genetic technologies that could reveal uncertainties, clinically called “variants of uncertain significance.” In other words, they’ll receive irregular test results accompanied by few to no answers.   

“We can identify all of these genetic variants but our ability to see them outpaces our ability to describe what they’re doing,” said Rubel, a sixth-year Ph.D. candidate in the Department of Anthropology who earned her master’s in public health from Penn. “Patients and clinicians get short-changed in the information they have to make critical decisions.”

Technology has surprisingly exacerbated the issue as better tools allow genetic make-up to be seen in greater detail.

Werner-Lin likens it to an error in a book. Genetic testing used to reveal the equivalent to an entire chapter missing, with clear implications for its effect on the rest of the story. With Chapter 4 gone, it’s hard to comprehend the tale’s full meaning. Today, it is possible see down to what would equal one typo on one page of that book. Does that misspelling or wrong word change the meaning of the whole volume? It is not really known, and there isn’t yet enough data to figure it out. 

“In the human body, we have typos all over the place. For many of them, we don’t know whether they mean everything or nothing with respect to a pregnancy,” Werner-Lin said. “We might know in 10 years. But at that point this pregnancy has been terminated or this child is entering the fourth grade.”

​​​​​​​To determine which resources parents in such a situation turned to, Rubel and Werner-Lin interviewed 27 female patients and 12 of their male partners. Patients clinically designated as “high risk” due to age, personal or family medical history or other diagnostic information were offered a prenatal microarray test, which detects duplications, deletions and insertions in an unborn child’s genome. All participants received abnormal results with uncertain clinical implications. The researchers spoke to participants during pregnancy and again six to nine months after delivery.

During interviews they asked why the parents chose to complete microarray testing, how they felt after receiving the results, what they needed from care providers throughout the pregnancy and how comfortable they felt with their decision to either terminate or continue the pregnancies.

Generally speaking, biomedical expertise, the information doctors typically share alongside a diagnosis, is held in the highest esteem. But for uncertain genetic results for which clinicians had little to no predictive or diagnostic information, the research team learned that alternative methods for garnering answers took precedence. Those included, for example, talking with friends or family who had experienced something similar, joining social media groups, turning to spiritual communities for guidance or navigating scientific literature online.

“For these patients,” Rubel said, “when they find there isn’t biomedical information that they can use, all of these ‘other ways of knowing’ become really important. You can’t delegitimize one form of knowing over another. Everything that is being used is, by definition, useful.”

What the researchers hope is that these findings can prompt physicians, genetic counselors and other prenatal-care providers to ask patients where they find additional information outside the doctor’s office and whether they would use referred, reputable resources. That doesn’t require extending visits beyond the time limitations the current system allows, Rubel said.

“It would be great to see clinicians ask just a couple quick additional questions,” she said, “instead of having patients find the worst-of-the-worst case studies on Google. This can help turn that information pursuit from something that could give you potentially toxic information into something patients find helpful.”

Funding for this work came from the National Institutes of Health’s National Institute of Child Health and Development.