An interventional study of enhanced genomic report in Intellectual Disability, Autism and Multiple Congenital Anomalies, sponsored by Geisinger Clinic. Completed. Open to participants aged Up to 21 Years. Per ClinicalTrials.gov, last updated 2018-02-12.
Sponsored by Geisinger Clinic · Not applicable, Interventional, and Health services research
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.
387 studies on the registry are indexed under Intellectual Disability; 105 are open to participants now.
This study's enrollment of 52 is below the median of 58 across 248 interventional studies indexed under Intellectual Disability.
Browse Intellectual Disability studies →Geisinger Clinic is the lead sponsor of 127 studies on the registry; 17 are open to participants now.
Of its 9 completed or terminated interventional studies of FDA-regulated products, 7 (78%) have results posted.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
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
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
Satisfaction With Genomic Test Report
3 questions on how helpful various parts of the test report were for parents who opened the enhanced report.
Time frame: 3 months after receipt of enhanced report
Subjects participating in the whole genome sequencing study for undiagnosed developmental delay at Geisinger Health System were invited to participate.
| Milestone | Routine Care With Delayed Access to Report | Routine Clinical Care Plus Enhanced Genomic Report |
|---|---|---|
| Started | 24 | 28 |
| Completed | 20 | 21 |
| Not completed | 4 | 7 |
| Withdrew: Lost to follow-up | 4 | 7 |
| Milestone | Routine Care With Delayed Access to Report | Routine Clinical Care Plus Enhanced Genomic Report |
|---|---|---|
| Started | 20 | 0 |
| Completed | 15 | 0 |
| Not completed | 5 | 0 |
| Withdrew: Lost to follow-up | 5 | 0 |
3 questions on how helpful various parts of the test report were for parents who opened the enhanced report.
| Participants | Routine Clinical Care First, Then Enhanced Report | Routine Clinical Care Plus Enhanced Genomic Report |
|---|---|---|
| Summary — Not Helpful | 0 | 2 |
| Summary — A little bit helpfu | 1 | 1 |
| Summary — Somewhat helpful | 1 | 1 |
| Summary — Quite a bit helpful | 2 | 3 |
| Summary — Very helpful | 0 | 1 |
| Summary — Missing | 2 | 1 |
| Detailed Explanation — Not Helpful | 0 | 2 |
| Detailed Explanation — A little bit helpfu | 1 | 1 |
| Detailed Explanation — Somewhat helpful | 1 | 1 |
| Detailed Explanation — Quite a bit helpful | 2 | 1 |
| Detailed Explanation — Very helpful | 0 | 3 |
| Detailed Explanation — Missing | 2 | 1 |
| Care Instructions — Not Helpful | 0 | 4 |
| Care Instructions — A little bit helpfu | 2 | 1 |
| Care Instructions — Somewhat helpful | 1 | 2 |
| Care Instructions — Quite a bit helpful | 1 | 0 |
| Care Instructions — Very helpful | 0 | 1 |
| Care Instructions — Missing | 2 | 1 |
Collected over study duration, up to 6 months post receipt of enhanced genomic results report. Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Routine Clinical Care First, Then Enhanced Report | 0/24 (0%) | 0/24 (0%) | 0/24 (0%) |
| Routine Clinical Care Plus Enhanced Genomic Report | 0/28 (0%) | 0/28 (0%) | 0/28 (0%) |
| Age, Categorical(Participants) | Control With Delayed Access | Enhanced Genomic Report | Total |
|---|---|---|---|
| <=18 years | 0 | 0 | 0 |
| Between 18 and 65 years | 24 | 28 | 52 |
| >=65 years | 0 | 0 | 0 |
| Sex: Female, Male(Participants) | Control With Delayed Access | Enhanced Genomic Report | Total |
|---|---|---|---|
| Female | 13 | 16 | 29 |
| Male | 11 | 12 | 23 |
| Ethnicity (NIH/OMB)(Participants) | Control With Delayed Access | Enhanced Genomic Report | Total |
|---|---|---|---|
| Hispanic or Latino | 0 | 2 | 2 |
| Not Hispanic or Latino | 23 | 26 | 49 |
| Unknown or Not Reported | 1 | 0 | 1 |
| Race (NIH/OMB)(Participants) | Control With Delayed Access | Enhanced Genomic Report | Total |
|---|---|---|---|
| American Indian or Alaska Native | 0 | 0 | 0 |
| Asian | 0 | 0 | 0 |
| Native Hawaiian or Other Pacific Islander | 0 | 0 | 0 |
| Black or African American | 0 | 0 | 0 |
| White | 23 | 26 | 49 |
| More than one race | 0 | 0 | 0 |
| Unknown or Not Reported | 1 | 2 | 3 |
| Region of Enrollment(Participants) | Control With Delayed Access | Enhanced Genomic Report | Total |
|---|---|---|---|
| United States | 24 | 28 | 52 |
| Child's WGS Result(Participants) | Control With Delayed Access | Enhanced Genomic Report | Total |
|---|---|---|---|
| Causal Variant Result | 4 | 3 | 7 |
| Non-Causal Variant Result | 20 | 25 | 45 |
| Education(Participants) | Control With Delayed Access | Enhanced Genomic Report | Total |
|---|---|---|---|
| Some high school (9-12) | 4 | 0 | 4 |
| High school graduate or GED | 3 | 7 | 10 |
| Post high school training other than college | 2 | 5 | 7 |
| Some college | 7 | 6 | 13 |
| Bachelor's degree or equivalent | 3 | 6 | 9 |
| Master's degree | 4 | 4 | 8 |
| Doctor or other professional degree | 1 | 0 | 1 |
| Income(Participants) | Control With Delayed Access | Enhanced Genomic Report | Total |
|---|---|---|---|
| Less than $15,000 | 0 | 1 | 1 |
| $15,000 to $29,999 | 3 | 1 | 4 |
| $30,000 to $44,999 | 2 | 4 | 6 |
| $45,000 to $59,999 | 6 | 2 | 8 |
| $60,000 to $89,999 | 4 | 14 | 18 |
| $90,000 to $149,999 | 3 | 2 | 5 |
| $150,000 to $199,999 | 3 | 2 | 5 |
| $200,000 or above | 3 | 0 | 3 |
| Missing | 0 | 2 | 2 |
3 further baseline measures are reported on the registry.
No study locations are listed for this record.
Ran from Aug 2015 to primary completion in Jan 2017, 17 months.
Results were first posted in Jun 2017, 5 months after primary completion.
Of 155 non-industry interventional studies with no phase under Intellectual Disability, half reached primary completion within 18 months of starting (the median), counting those still running; a quarter within 7 and three quarters within 36. This study's 17 months is close to that.
Counting every sponsor, half of 158 studies reached it within 19 months; a quarter within 7 and three quarters within 36.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Aug 2017. You cannot join it, but the record below documents what was studied.
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