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Utilization of a REDCap GeneResultTool for Returning HFE Pathogenic Results

Education and Research Strategies
  • Primary Categories:
    • Health services and Implementation
  • Secondary Categories:
    • Health services and Implementation
Introduction:
Return of research results within large scale biobanks can be resource intensive, thus creative but appropriate ways to reduce logistical burdens are needed.  The Mayo Clinic Biobank has received whole exome sequencing (WES) results for 53,000 participants and is now returning pathogenic and likely pathogenic results for the ACMG78 genes. The current result-return process involves mailing participants an invitation followed by an email containing link to a REDCap based tool that provides basic genetics education, collects personal and family health history, and schedules a genetic counseling (GC) phone appointment. During the appointment, the research result is disclosed, medical management guidance is given, and a confirmatory test is ordered.

The p.C282T variant in the gene encoding the human homeostasis iron regulator protein (HFE protein) is a relatively common cause of HFE-associated hereditary hemochromatosis which leads to excess iron absorption and is treated through therapeutic phlebotomy.  Based on a review of disease impact and degree of medical management recommended, we determined that HFE had relatively low severity and a candidate for our pilot for electronic return of research results.

We conducted a pilot study that utilized an optional REDCap GeneResultTool to return HFE results and initiate the process of clinical confirmation. Herein, we report our initial experiences with the GeneResultTool, evaluating participant uptake, along with feasibility and reported preference of result return among our participants.





 

Methods:
Prior to implementation, 20 participants with an HFE-associated variant were contacted following traditional processes.  No unanticipated concerns were reported. For the pilot, 64 participants received a notification letter containing a QR code linked to a REDCap-based tool called the GeneResultTool. Non-responders received a reminder email containing the GeneResultTool link. Participants were frequency-matched to the traditional group on age (+/- 20 years) and sex.

The GeneResultTool was written in a conversational decision tree format that included an introduction of what to expect throughout and provided an option to schedule an appointment with a genetic counselor if preferred. For those that continued, the tool provided basic genetics education and a summary of the Genetic Information Nondiscrimination Act and were given the option to view their genetic result. The tool also provides a summary of potential symptoms and common treatments for HFE as well as information on the clinical confirmation process and associated costs. For those that opted to order clinical confirmation, a consent form was automatically sent to their email for review. Finally, a section on personal and family health history captured relevant diseases and genetic testing information. Upon completion, a transcript and satisfaction survey were sent via email.

 

Results:
The pilot study is currently ongoing. In the first round of results, 20 traditional and 64 GeneResultTool invitations were mailed. Among the traditional letter recipients, 80% scheduled a GC appointment. In contrast, 56% of responders who received the GeneResultTool letter chose to view their results via the tool, 12% opted out of the tool to meet with a genetic counselor, and 32% have not yet responded. Overall response rates were 90% for the traditional and 72% for the GeneResultTool.  Among users of the traditional GC method, 75% reported high satisfaction compared to 91% for those using the GeneResultTool.

Among recipients of the GeneResultTool invitation, users ranged in age from 32-85 years (mean 61.4 years). Those that opted out of the tool to request a GC visit ranged from 38-90 (mean 69.9 years).

Conclusion:
Preliminary data suggest high patient satisfaction and moderate uptake of the GeneResultTool, indicating its potential as a supplemental method for returning less severe genetic results. Using REDCap to return these results offers a solution to reduce cost and effort burden on large return-of-results projects while maintaining participant satisfaction.

 

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