Expectation vs. reality: Rare disease parents’ mixed feelings about genetic research results

rare disease genetic resultsTypically, when you enroll in a study, it’s not with the expectation that you will receive results. In genomics studies, it’s becoming common to give families the option to get individual results — the newborn sequencing study, Baby Seq, is just one example — as an incentive to participate. Families of children with rare disease, especially undiagnosed illnesses, need no incentive: they’re desperate for answers.

But how do families actually feel once they get genetic results? We conducted interviews with nine rare disease parents (six mothers, three fathers) whose children were enrolled at the hospital’s Manton Center for Orphan Disease Research. What we found is more complexity than we expected.

What parents hoped for

All the parents’ children had conditions that were ultra-rare, were only newly recognized in medicine or were an unexpected variant of a known condition.

Going into the studies, the parents hoped to gain information to predict their child’s future. “I’ve always believed that my child’s life would be shortened as a result of his diagnosis,” said one mother. “To have predictability was so important to me.” Others hoped for clues to managing their child’s health, “versus saying, ‘we don’t know what he has.’”

Family planning was another motivator: “We were still wanting to grow our family… we thought, ‘OK, we don’t want to put any future suffering on any children.” Another mother wondered if her husband’s brother needed to be concerned about passing the condition to his own children.

For several parents, helping other families (even if not their own child) was a strong motivator. “We … figure participating can further science and help kids in the future… so that’s why we were kind of okay with however it turned out.” But the most universal yearning was simply to put a name to their child’s condition, to simply know what it was, where it came from, what caused it.

Views on the results

All parents saw at least some value in getting their child’s genetic results: they felt they gave them some answers and reassured them that “we’re not the only ones out there.” One mother was “pretty blown away… this explains so much about him.”

rare disease genetic results

Another was glad to learn that her son’s condition “is something that people do live with. It’s not some purely degenerative neurologic condition.” A father felt, “okay, so we have the ability to affect the future.”

Two parents took action: One shared the results with her son’s care team: “[They] reinforced making a change and taking him off the generic seizure medication and putting him on the name brand.” Another shared her child’s results with her online support group: “We could say, ‘here’s a test and you can find out for sure rather than waiting years and wondering what would happen.’”

But other parents felt disappointment and a lack of closure, finding the future still unknown: “It didn’t really change anything at all other than giving a name to what we were dealing with,” said one dad. “There’s no like, ‘okay, so because of this gene mutation, here’s a pill, or here’s a treatment, or we can do gene therapy,” a mother concurred. “I guess maybe I didn’t realize just how extreme rare [my child’s] diagnosis was going to be,” said another. “And I maybe really set the bar too high in my expectations and my assumption that I was going to be able to connect with other families.”

The effects on family planning had some surprises. In all nine cases, the mutation was de novo and could not be passed on. Some families found relief in this and even an impetus to have more children, so that the affected child could have more support. But one family felt it would be unfair to have another child: the affected child would require too much of their attention.

Parents’ reactions to receiving genetic research results tended to fall in step with their general emotions around their children’s diagnosis and future — as well as their prior expectations. Those expressing more frustration, hopelessness, anxiety, depression, stress and disappointment felt less helped by the information and consistently expected more from testing than they felt they got. Parents with more positive emotions (gratefulness, relief, hopefulness, empowerment) tended to expect less from testing and found the results to be more useful, sometimes even exceeding their expectations.

Learning for the future

The reality is that genetic testing results often don’t provide an ultimate answer, nor do they always chart a clear course for the future. Yet while three parents reported being “Dissatisfied” or “Very Dissatisfied” on at least one of four satisfaction measures, all nine said they would do it again if given the chance.

Our findings, published recently in PLoS One, highlight how important it is for researchers to ensure that patients and families come out of the consent process with realistic expectations around the information they may or may not receive from the study. For example, at the end of the consent process, researchers could ask families what they understand about receiving meaningful results and correct any misconceptions.

And once families get genetic information back, the study highlights how important it is to also provide them with resources to help them deal with this information and connect with other families.

This study is just a starting point in a larger ethical discussion that will need to happen as genomic sequencing becomes broadly available. We will need more and larger studies to understand how best to inform patients and families from more diverse populations about the results they may or may not receive.

Holm rare diseaseIngrid Holm, MD, MPH is a pediatric geneticist interested in rare diseases and the ethical implications of genomic testing for children and families.