Results Summary
What was the research about?
Intellectual disability, or ID, and autism spectrum disorder, or ASD, are health problems that affect how people learn and relate to others. Many different genetic changes can cause ID or ASD. Knowing the genetic change can lead to better treatment and care for children with ID or ASD. Genetic tests can find the genetic change. But the results of these tests can be hard to understand.
In this study, the research team worked with parents of children with ID and ASD to design a report that helped parents learn and talk about genetic testing results. The report included
- A clear explanation of the test results and next steps for care
- Answers to common questions about the diagnosis
- A table describing what type of health issues the child might have and at what age
- Links to resources specific to the diagnosis
- A glossary of medical terms
The report was available on an online patient portal. A patient portal is a secure website that gives patients, or in this case parents, access to their children’s health records.
The research team looked at how parents used the online report. They wanted to compare parents who accessed the reports with parents who didn’t.
What were the results?
Of the 46 children who had reports on the patient portal, only nine parents opened the report. In interviews, parents said that the email message telling them the report was ready wasn’t clear. Parents whose children didn’t receive a genetic diagnosis said they didn’t have a reason to open the report.
Two parents who looked at the report said they used it to talk with their children’s teachers and doctors. The report helped them feel confident in talking about their children’s problems.
Who was in the study?
This study included parents of 46 children with ID or ASD who received genetic testing results. All lived in rural areas of Pennsylvania. The research team interviewed 23 parents, and 52 parents filled out a survey. Of parents who filled out the survey, 96 percent were white, and 58 percent were women. In addition, 88 percent were married, and 63 percent had some college education.
What did the research team do?
First, the research team worked with parents of children with ID, ASD, or both to design the report. Doctors and other providers reviewed the report, and the team made changes. Next, a separate team put the report on the patient portal.
Then, the research team invited parents to take part in the study by taking a survey. Half of those who took the survey received a link to the genetic testing report on the patient portal. The other half received the link three months later. All parents in the study received usual care. Usual care included an in-person clinic visit to explain the genetic testing results, followed by a summary letter. The letter described the diagnosis and care management.
To look at parents’ use of the online report, the research team interviewed parents about barriers to accessing the report and how they used the report.
The research team worked with a patient, parents of children with genetic disorders, and doctors in all parts of the study.
What were the limits of the study?
Too few parents opened the report for the research team to compare the usefulness of the online report with the summary letter as planned. Future research could look at other ways to share the report with parents.
How can people use the results?
Parents in this study didn’t open the report as planned. But similar reports may be helpful for parents of children who receive genetic testing results. Clinics that offer genetic testing may look at whether reports like this would be helpful if given to parents in other ways.
Professional Abstract
Objective
To assess the impact of a genetic testing report for parents of children with unexplained intellectual disability (ID) or autism spectrum disorder (ASD)
Study Design
| Design Element | Description |
|---|---|
| Design | Randomized controlled trial |
| Population | 52 parents of 46 children with unexplained ID or ASD |
| Interventions/ Comparators |
|
| Outcomes |
EHR system: number of parents who opened the report Survey: satisfaction with the report, decision regret for undergoing genetic testing, parent-provider communication Interviews: use and helpfulness of the report |
| Timeframe | 6-month follow-up for study outcomes |
In this randomized prospective crossover trial, researchers sent parents a link to a genetic testing report, designed to facilitate parent and provider interpretation of and communication about test results, via an electronic health record (EHR) system. The report included a table that described the type of medical issues the child might experience and at what age, a glossary, and links to resources for additional information. Researchers randomized parents according to when they received the link to the report, either at study baseline (intervention group) or three months after baseline (control group). All parents in the study received usual care, which consisted of a geneticist and genetic counselor orally presenting genetic testing results to parents in person, followed by a letter summarizing the visit.
Researchers surveyed parents at baseline, before they had access to the report. Parents completed follow-up surveys three months after baseline for the control group (before they received the link to the report) and three months after giving each group the link to their child’s report. The surveys assessed satisfaction with the report, decision regret for undergoing genetic testing, and the effect of the EHR-based report on parent and provider communication.
After parents received links to their child’s report, researchers interviewed 23 parents in both groups regarding barriers to accessing the report and how they used the report.
A total of 52 parents of 46 children with ID or ASD living in rural areas of Pennsylvania completed the surveys. Of these, 96% were white, and 58% were female. In addition, 88% were married, and 63% had some college education.
Clinicians and parents of children with genetic disorders, including a parent co-investigator, participated in all phases of the study.
Results
Parents or providers opened only one-third of the reports, or 15 of the 46 reports. Nine parents opened reports on the patient portal, and six providers opened reports in the EHR system.
Interview data suggested that notification issues between parents and providers inhibited use of the report. Specifically, the email message informing parents about the availability of the report stated that “a survey is available” rather than explicitly stating that their child’s personalized report was available. In addition, many of the parents who did not learn about a cause for their child’s symptoms during the genetic testing conversation with the provider did not access the report.
Because of the low uptake of the EHR-based reports, the randomized trial was not informative. In-depth interviews with two mothers who accessed the report (both were in the control group, which received the report three months later than the intervention group) usefully illustrated how parents can use the report. These two parents printed the report and shared it with their children’s teachers and healthcare providers.
Limitations
Messaging used to communicate to parents about the availability of the report was not clear. Only nine parents accessed the report at the time it became available, which meant that researchers could not draw conclusions from the randomized controlled trial.
Conclusions and Relevance
Researchers could not compare the EHR-based report and usual care groups. Two parents’ use of the report in interactions with teachers and health professionals illustrates a potential use of this type of personalized report.
Future Research Needs
Future research could address the challenges with accessing the genetic testing report and examine differences between receiving the report and usual care.
Final Research Report
View this project's final research report.
Journal Citations
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Peer-Review Summary
Peer review of PCORI-funded research helps make sure the report presents complete, balanced, and useful information about the research. It also assesses how the project addressed PCORI’s Methodology Standards. During peer review, experts read a draft report of the research and provide comments about the report. These experts may include a scientist focused on the research topic, a specialist in research methods, a patient or caregiver, and a healthcare professional. These reviewers cannot have conflicts of interest with the study.
The peer reviewers point out where the draft report may need revision. For example, they may suggest ways to improve descriptions of the conduct of the study or to clarify the connection between results and conclusions. Sometimes, awardees revise their draft reports twice or more to address all of the reviewers’ comments.
Peer reviewers commented, and the researchers made changes or provided responses. Those comments and responses included the following:
- The reviewers asked for the researchers’ thoughts about potential heterogeneity of treatment effects for the different disability subgroups in the study. The researchers replied that clinical conditions with a common genetic cause are often heterogeneous. Therefore, they chose to treat them as a continuum rather than as discrete subgroups.
- The reviewers commented that the draft final research report did not present enough information about the outcome measures and the quantitative data. The researchers added material on the outcome measures and noted that they focused more on results with qualitative outcomes because the sample size was too low to draw any quantitative conclusions.
- The reviewers noted that the report initially overstated the strength of the study results and suggested revisions. In response, the researchers indicated that the sample size of the study was too small to have sufficient power to determine whether there were any quantifiable differences between groups. Instead, the researchers reported on qualitative data and provided descriptive statistics.