Clinical trial · Observational
Refining Information Technology Support for Genetics in Medicine
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The clinical use of genetic testing is expanding and, as a result, the number of variants identified in patients is growing. Knowledge of the clinical impact of these variants improves over time. However, the combination of more testing and the rapid evolution of genetic knowledge make it impossible for clinicians to fully account for the latest implications of their patients' genetic profiles as patient care decisions are made. This proposed study plans to enhance and evaluate IT infrastructure developed to provide timely genetic variant updates and patient search functionality to clinicians to assist in optimizing patient care.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cancer | Malignant Neoplasm | ALIAS | 0.90 |
| Hearing Loss | — | UNRESOLVED | — |
| Hypertrophic Cardiomyopathy | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| GeneInsight Clinic (GIC) | Device | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- GeneInsight Clinic (GIC)
- description
- The Group/Cohort in this study are geneticists, physicians, and genetic counselors who are using the GeneInsight Clinic (previously known as Patient Genome Explorer) to receive and store genetic test reports and variant update information.
- interventionNames
- Device: GeneInsight Clinic (GIC)
Primary outcomes (1)
- measure
- Efficiency of Obtaining Updated Genetic Variant Information
- timeFrame
- Continuous across 21 months
- description
- Phone and email logging procedures will be implemented before study onset to establish a solid baseline. Laboratory staff will log each time they receive a phone call or email requesting updated information on a genetic variant. These logs will be maintained throughout the study period even once the GIC tool becomes available. System auditing processes will capture data on when genetic variants are updated, when alerts are sent, and clinician accesses to online screens. Centralized system data will be evaluated to track usage of the GIC patient search functions, using a flagging approach.
Secondary outcomes (3)
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: Study subjects selected from Partners HealthCare and non-Partners study sites include: * treating clinicians * geneticists * genetic counselors * pathologists Exclusion Criteria: * N/A
References
Publications (1)
- DERIVEDKlinkenberg-Ramirez S, Neri PM, Volk LA, Samaha SJ, Newmark LP, Pollard S, Varugheese M, Baxter S, Aronson SJ, Rehm HL, Bates DW. Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates. Appl Clin Inform. 2016 Jun 1;7(2):461-76. doi: 10.4338/ACI-2015-11-RA-0162. eCollection 2016. PMID 27437054