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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT02504502
Other study ID # 2013-0594
Secondary ID
Status Completed
Phase N/A
First received July 7, 2015
Last updated August 7, 2017
Start date August 2015
Est. completion date January 1, 2017

Study information

Verified date August 2017
Source Geisinger Clinic
Contact n/a
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial 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?"


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.


Recruitment information / eligibility

Status Completed
Enrollment 52
Est. completion date January 1, 2017
Est. primary completion date January 1, 2017
Accepts healthy volunteers No
Gender All
Age group N/A to 21 Years
Eligibility 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).

Study Design


Intervention

Other:
enhanced genomic report
a patient-centered version of a genomic results report delivered to patient through the electronic record portal

Locations

Country Name City State
n/a

Sponsors (2)

Lead Sponsor Collaborator
Geisinger Clinic Patient-Centered Outcomes Research Institute

References & Publications (20)

Bloom BS. Effects of continuing medical education on improving physician clinical care and patient health: a review of systematic reviews. Int J Technol Assess Health Care. 2005 Summer;21(3):380-5. Review. — View Citation

Brehaut JC, O'Connor AM, Wood TJ, Hack TF, Siminoff L, Gordon E, Feldman-Stewart D. Validation of a decision regret scale. Med Decis Making. 2003 Jul-Aug;23(4):281-92. — View Citation

Cella D, Hughes C, Peterman A, Chang CH, Peshkin BN, Schwartz MD, Wenzel L, Lemke A, Marcus AC, Lerman C. A brief assessment of concerns associated with genetic testing for cancer: the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire. Health Psychol. 2002 Nov;21(6):564-72. — View Citation

Chung WW, Chen CA, Cupples LA, Roberts JS, Hiraki SC, Nair AK, Green RC, Stern RA. A new scale measuring psychologic impact of genetic susceptibility testing for Alzheimer disease. Alzheimer Dis Assoc Disord. 2009 Jan-Mar;23(1):50-6. — View Citation

DuBenske LL, Burke Beckjord E, Hawkins RP, Gustafson DH. Psychometric evaluation of the Health Information Orientation Scale: a brief measure for assessing health information engagement and apprehension. J Health Psychol. 2009 Sep;14(6):721-30. doi: 10.1177/1359105309338892. — View Citation

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

Giardiello FM, Brensinger JD, Petersen GM, Luce MC, Hylind LM, Bacon JA, Booker SV, Parker RD, Hamilton SR. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med. 1997 Mar 20;336(12):823-7. — View Citation

Hammond EH, Flinner RL. Clinically relevant breast cancer reporting: using process measures to improve anatomic pathology reporting. Arch Pathol Lab Med. 1997 Nov;121(11):1171-5. — View Citation

Laposata ME, Laposata M, Van Cott EM, Buchner DS, Kashalo MS, Dighe AS. Physician survey of a laboratory medicine interpretive service and evaluation of the influence of interpretations on laboratory test ordering. Arch Pathol Lab Med. 2004 Dec;128(12):1424-7. — View Citation

Lerman CE, Brody DS, Caputo GC, Smith DG, Lazaro CG, Wolfson HG. Patients' Perceived Involvement in Care Scale: relationship to attitudes about illness and medical care. J Gen Intern Med. 1990 Jan-Feb;5(1):29-33. — View Citation

Levy HP, LoPresti L, Seibert DC. Twenty questions in genetic medicine--an assessment of World Wide Web databases for genetics information at the point of care. Genet Med. 2008 Sep;10(9):659-67. doi: 10.1097GIM.0b013e318180639d. — View Citation

Lubin IM, McGovern MM, Gibson Z, Gross SJ, Lyon E, Pagon RA, Pratt VM, Rashid J, Shaw C, Stoddard L, Trotter TL, Williams MS, Amos Wilson J, Pass K. Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report. J Mol Diagn. 2009 Mar;11(2):162-71. doi: 10.2353/jmoldx.2009.080130. Epub 2009 Feb 5. — View Citation

Mishel MH. Parents' perception of uncertainty concerning their hospitalized child. Nurs Res. 1983 Nov-Dec;32(6):324-30. — View Citation

Morgan MA, Driscoll DA, Zinberg S, Schulkin J, Mennuti MT. Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening. Obstet Gynecol. 2005 Jun;105(6):1355-61. — View Citation

O'Connor AM. Validation of a decisional conflict scale. Med Decis Making. 1995 Jan-Mar;15(1):25-30. — View Citation

Sandhaus LM, Singer ME, Dawson NV, Wiesner GL. Reporting BRCA test results to primary care physicians. Genet Med. 2001 Sep-Oct;3(5):327-34. — View Citation

Scheuner MT, Edelen MO, Hilborne LH, Lubin IM; RAND Molecular Genetic Test Report Advisory Board. Effective communication of molecular genetic test results to primary care providers. Genet Med. 2013 Jun;15(6):444-9. doi: 10.1038/gim.2012.151. Epub 2012 Dec 6. — View Citation

Scheuner MT, Hilborne L, Brown J, Lubin IM; members of the RAND Molecular Genetic Test Report Advisory Board. A report template for molecular genetic tests designed to improve communication between the clinician and laboratory. Genet Test Mol Biomarkers. 2012 Jul;16(7):761-9. doi: 10.1089/gtmb.2011.0328. Epub 2012 Jun 25. — View Citation

Scriver CR, Neal JL, Saginur R, Clow A. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J. 1973 May 5;108(9):1111-5. — View Citation

Wilson J. Acknowledging the expertise of patients and their organisations. BMJ. 1999 Sep 18;319(7212):771-4. Review. — View Citation

* Note: There are 20 references in allClick here to view all references

Outcome

Type Measure Description Time frame Safety issue
Primary Satisfaction With Genomic Test Report 3 questions on how helpful various parts of the test report were for parents who opened the enhanced report. 3 months after receipt of enhanced report
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