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Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients

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ClinicalTrials.gov Identifier: NCT02504502
Recruitment Status : Completed
First Posted : July 22, 2015
Results First Posted : June 15, 2017
Last Update Posted : February 12, 2018
Sponsor:
Collaborator:
Patient-Centered Outcomes Research Institute
Information provided by (Responsible Party):
Marc S. Williams, Geisinger Clinic

Brief 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?"


Condition or disease Intervention/treatment Phase
Intellectual Disability Autism Multiple Congenital Anomalies Other: enhanced genomic report Not Applicable

Detailed Description:

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.


Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 52 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Intervention Model Description:

intervention = routine clinical care for return of results per whole genome sequencing study with enhanced genetic test results report developed through phase 1 and 2 of this study.

Control with delayed intervention = routine clinical care for return of results per whole genome sequencing study with crossover to receipt of enhanced report upon completion of baseline and 3 month post-baseline followup surveys. Participants in this arm will complete a third survey at 3 months post receipt of enhanced report

Masking: Single (Participant)
Masking Description: participants do not know whether they are in the intervention (enhanced report) or control (routine clinical care with delayed access to the enhanced report) arm
Primary Purpose: Health Services Research
Official Title: Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
Actual Study Start Date : August 2015
Actual Primary Completion Date : January 1, 2017
Actual Study Completion Date : January 1, 2017

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Experimental: Enhanced genomic report
routine clinical care for return of results per whole genome sequencing study with enhanced genetic test results report developed through phase 1 and 2 of this study
Other: enhanced genomic report
a patient-centered version of a genomic results report delivered to patient through the electronic record portal

Control with delayed access
routine clinical care for return of results per whole genome sequencing study and no intervention through three months. This arm will crossover to receipt of enhanced report upon completion of baseline and 3 month post-baseline followup surveys. Participants in this arm will complete a third survey at 3 months post receipt of enhanced report
Other: enhanced genomic report
a patient-centered version of a genomic results report delivered to patient through the electronic record portal




Primary Outcome Measures :
  1. Satisfaction With Genomic Test Report [ Time Frame: 3 months after receipt of enhanced report ]
    3 questions on how helpful various parts of the test report were for parents who opened the enhanced report.



Information from the National Library of Medicine

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Ages Eligible for Study:   up to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02504502


Sponsors and Collaborators
Geisinger Clinic
Patient-Centered Outcomes Research Institute
Investigators
Principal Investigator: Marc S Williams, MD Geisinger Genomic Medicine Institute

Additional Information:
Publications:
Emery AEH, Rimoin DL. 1990. Principles and Practice of Medical Genetics, Second Edition. New York, Churchill Livingstone

Responsible Party: Marc S. Williams, Director, Genomic Medicine Institute, Geisinger Clinic
ClinicalTrials.gov Identifier: NCT02504502     History of Changes
Other Study ID Numbers: 2013-0594
First Posted: July 22, 2015    Key Record Dates
Results First Posted: June 15, 2017
Last Update Posted: February 12, 2018
Last Verified: August 2017

Keywords provided by Marc S. Williams, Geisinger Clinic:
Whole Genome Sequencing
Laboratory Report
Patient Centered
Communication of Results
Patient Provider Communication

Additional relevant MeSH terms:
Intellectual Disability
Congenital Abnormalities
Abnormalities, Multiple
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Neurodevelopmental Disorders
Mental Disorders