What prompted you to conduct this research on patient-centered clinical decision support?
Jessica Goehringer: Our research was a multi-year effort motivated by the complexity of genetic laboratory results that can lead to misinterpretation and potentially incorrect patient care. We thought there was a way to improve care provider and patient understanding by involving them in the development of a patient-centered genomic test report.
Intellectual disability (ID) and autism spectrum disorder (ASD) were appropriate conditions to focus on at the onset of the research as many different genetic tests are ordered on patients with these conditions. Further, finding the correct genetic change can alter treatment and care recommendations for children with ID or ASD.
Our researchers wanted to partner with parents of children with ID and ASD to gain their insight in the development of a genetic test report. We wanted the test report to be a tool that would help parents learn and talk about the results found in their child(ren). The report included, in simple language,
- an explanation of the test results and next steps for care,
- answers to common questions about the diagnosis,
- an informational table that included health concerns the child may have at certain ages,
- links to diagnosis-specific resources, and
- a medical term glossary.
What are the key takeaways from your research and how do they differ from or build upon previous research?
Goehringer: Patients desire easy-to-understand genomic test reports. Certain phrases are preferred over others frequently found on these reports—for example “positive result” or “cause of your child’s symptoms” is preferable to “pathogenic” or “likely pathogenic.”
Parents thought including medical terminology on a report is helpful to familiarize them with terms they will hear or see in the future, but they also wanted a glossary to define the medical terms. Parents also wanted the report to include detailed, disease-specific care and management recommendations, as well as prognostic information about what the family can expect in the future in terms of symptoms, disease progression, and care.
Care providers who participated in this research, who represented key end users of the genomic test report, also expressed preferences that they would want standardized in the reports. These included
- demographic information,
- clinical data including the indication for genetic testing,
- clear genetic test results,
- a glossary of genetic terminology, and
- provider resources.
Care providers wanted to have access to the patient genomic test report so they were aware of the information their patients received. Our research confirmed what other researchers previously reported—namely that genomic data are complex and may warrant a new approach to result reporting. Enhanced, interactive genomic reports may facilitate care provider and patient communication.
What implications do your findings have for the development and dissemination for future patient-centered clinical decision support?
Goehringer: Our research focused on patient-centered clinical decision support to:
- improve patient and care provider understanding of genomic test results,
- facilitate appropriate follow-up care, and
- improve communication between patients, care providers, and family members at risk for a genetic change identified in a family member.
As our focus was on the complex nature of genomic test results in a limited population (parents of children with ID or ASD), other researchers may want to adapt our approach to analyze whether a similar CDS tool can be created for a varied or expanded clinical population. Our research also supports prior findings that providing more access to the information contained in the electronic health record promotes patient empowerment that is associated with improved patient-defined outcomes.
This project extends the prior work by engaging patients (or in this case the parents of patients) to design a report for their use. This will lower barriers to understanding information in the electronic health record, and has the added advantage of having the information under the patient’s control, so it can be accessed as needed, including in non-medical settings such as schools—a critical element for children with ID/ASD.
What additional research is needed in patient-centered clinical decision support and how can others build on your research?
Goehringer: Most research has focused on care provider-facing CDS tools, therefore there is a need for more research focused on patient-centered CDS. Particularly, studies that validate and explore further the relationship between patient-facing CDS and patient reported outcomes are important. In addition, as our research focused on a patient-centered genomic test report for a subset of genetic conditions, research that focuses on expanding the scope of conditions for which an enhanced genomic report is used is warranted. In fact, this approach need not be limited to genomic testing indications and is potentially relevant to a broad range of health-related data. The use of patients as end-users to inform design can inform the next generation of patient portals tethered to electronic health record systems. A larger and more varied sample size may be a powerful approach to enable researchers to better understand how the report’s utility may be impacted by factors including health literacy, race/ethnicity, socioeconomic status, etc.
Better Decisions Together is a new special section in AcademyHealth’s peer-reviewed, open access journal, eGEMs that highlights compelling research in patient-centered clinical decision support. The section accepts submissions on a rolling basis. Learn more about the section and consider submitting your manuscript today.