enhancing genomic laboratory reports to enhance communication and empower patients

Conditions: Intellectual Disability; Autism; Multiple Congenital Anomalies

Summary: current lab reports are designed to communicate results from the laboratory to the provider; they are not designed to be accessible to patients. the investigators believe that a new type of genomic test report, tailored for patient- as well as provider-use, will enable patients to have access to information they can understand allowing them to be more involved in the management of their disorders, better navigate the health care system, and make more informed decisions about their health and health care in conjunction with their providers. this approach has the potential to improve outcomes from both the patient and provider perspectives. the investigators propose to study the research question, "can a genomic laboratory report tailored for both providers and families of patients improve interpretation of complex results and facilitate recommended care by enhancing communication and shared decision making?"

this is a mixed-methods will be conducted in multiple phases: phase 1: development of an enhanced genomic test result report through in-depth interviews with parents and providers phase 2: refine the report through parental focus groups and provider interviews and create the final report and delivery method. phase 3: implement the enhanced test report and evaluate the impact on patient and providers subjects for the study are parents of affected children enrolled in the whole genome sequencing (wgs) clinical research pilot study (study within a study). all parents receive routine clinical care for wgs and clinical return of results per protocol of the wgs study. parents from the wgs study were invited to participate in phases 1 and 2 of this study to help design and test an enhanced genomic test report that would meet their needs for information about their child's condition and communication with providers, caregivers, teachers, and family. this report in clinicaltrials.gov reports on phase 3 data only. the experimental design to be used for phase 3 of the project is a randomized, single-blinded pre- post-intervention trial with crossover. according to the wgs study protocol all results of the wgs testing will be provided by a geneticist and genetic counselor at an informing session. at this session, results will be returned and explained, recommendations provided and questions answered (routine clinical care). following this session, parents will be randomized as couples based on whether their child received a result of a causal variant or non-causal variant to receive either routine clinical care with an enhanced report (intervention arm) or routine clinical care first followed by enhanced report (control with crossover). randomizing parents as couples is necessary as randomization at the individual level would lead to contamination and spillover if one member of the couple were in the usual care arm and the other in the intervention arm. after routine clinical care to deliver the wgs test results and randomization, parents will be invited to participate in phase 3 to test the impact of the enhanced report on parental and provider satisfaction, communication, and knowledge. parents will enter into phase 3 of the study (experimental design) by completing baseline surveys. upon completion of baseline surveys, parents will be provided the enhanced report (intervention) or another copy of their standard lab report (control with crossover). all parents will be surveyed at 3 months. parents in the control with crossover arm will be provided the enhanced report at this time and sent another survey 3 month post enhanced report (6 month post baseline). standard, validated, survey instruments will be utilized for the baseline and follow-up surveys; therefore, it is possible that important differences between the routine clinical care with crossover and intervention arms could be missed. to insure capture of all important differences and all impact of the enhanced genomic test result report, additional in-depth qualitative interviews will take place after the final survey post enhanced report is administered.

Eligibility criteria:
inclusion criteria: * research participants who are consented to participate in the wgs study (#2012-0187). * providers who have referred participants to the wgs study (#2012-0187) and who have participated in the wgs genomic medicine workgroup or who have participated in the wgs program oversight committee. exclusion criteria: * participants who are not consented to participate in the wgs study (#2012-0187) * providers who have not referred patients to the wgs study (#2012-0187). * providers who have not had a relationship with the oversight of the wgs study (#2012- 0187).

Keywords: whole genome sequencing laboratory report patient centered communication of results patient provider communication