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Background: Genetic and genomic information is increasingly used in clinical care. The challenge for patients and their providers is having ready access to the information that is necessary for appropriate management and coordination of care.
Aim 1: Engage providers and parents of affected patients to develop a genomic laboratory report with advanced functionality, including point of care education and clinical decision support.
Aim 2: Deploy this enhanced genomic report for patients, families, and their providers.
Aim 3: Evaluate the impact of the enhanced genomic report from the perspective of providers and parents of affected patients.
Methods: Aim 1: Study participants were parents and providers of children with unexplained intellectual disability and autism enrolled in a whole genome sequencing study. These stakeholders were engaged through semistructured interviews and focus groups to inform development of a family-centered genomics results report. Reports were developed to address specific diagnostic information (i.e., a causal variant) when available and generic information when no diagnostic finding (i.e. no causal variant) was identified. Aim 2: Informatics set-up of the genomics report, to reside in the electronic health record (EHR), and usability testing of the enhanced online report were completed. Aim 3: The impact of providing an enhanced online report compare with usual care was tested utilizing a prospective, randomized mixed methods study with crossover design. Eighty-four eligible parents completed a baseline survey and were stratified by whether their child received a diagnostic (N = 7) versus nondiagnostic (N = 41) result from genetic testing and then randomized to the intervention versus usual care. After 3 months, parents in the usual care arm were invited to access the online report. All parents (intervention and usual care) were sent a survey at 3 months to measure outcomes, and those in the usual care group received another survey 3 months after the enhanced report became available to them. Outcomes included measures of patient satisfaction, patient communication,
and patient engagement; additional data were collected through qualitative interviews of users and nonusers of the enhanced report.
Results: Aim 1: Twelve parents participating in focus groups and interviews identified the important elements for a family-centered genomics results report. These parents expressed the desire for a report that enables better understanding of their child’s complex set of health care requirements, facilitates effective communication with providers and external family and caregivers, and provides access to the information that the "experts" know. Through qualitative interviews, 6 health care providers echoed the need for clear information to facilitate care for children with rare diseases and to enhance communication with parents. Aim 2: Parent and provider versions of a genomics results report were developed and converted to an online tool accessible to patients and providers through the EHR. Usability testing of the report was conducted in a convenience sample of 5 participants; all found the online tool easy to navigate. Aim 3: Of 46 enhanced reports, only 9 were accessed by parents. Because of the low uptake of the enhanced reports, the randomized trial was not informative. In-depth interviews with 2 mothers (both were randomized not to receive an enhanced report but received it 3 months later) best illustrate how parents can utilize the enhanced report. Both mothers used the report when meeting with other physicians and with teachers and other specialists. They indicated the report empowered them in these conversations with professionals.
Conclusion: Although the number of users with outcome data was small, this study suggests that customizable, templated genetic reports may be a useful and durable source of information to supplement that provided by genetics professionals in traditional face-to-face encounters. Parents who accessed the report used it to enhance communication with a wide of variety of individuals who interact with their child; however, reports that did not provide clear-cut diagnostic information were less useful to parents.
Limitations and subpopulation considerations: The low rate of access of the online genetic report by parents may have been due to multiple factors, including genetic test results were initially returned to all patients and their parents during a visit with a geneticist before the study began, per standard clinical practice; there was lack of a definitive diagnosis in most of the patients; and unanticipated technical issues during the study.