Patient Facing Genomic Test Report Project

How would you prefer to receive information from genetic and genomic tests?  This is an important question that we are researching by working with patients and their families. Researchers have found that patients and families want access to the often complex information so that they can take a more active role in the management of their child's condition.

Most rare genetic disorders are chronic and impact patients and their families for life. Having easy access to information about a genetic condition is important to help coordinate the proper medical care. This can be a challenge for patients, families and their providers. Non-genetic providers are often not comfortable managing genetic disease. In most cases, patients do not have enough information to decide the best course of action for their disorders even though they are put in the position of having to become an expert in the condition.

We want patient to have access to information they can understand and formatted in a way that they prefer. This will allow them to be more involved in the management of their disorders, better navigate the healthcare system by improving communication and make more informed decisions about their health and healthcare along with their providers. This approach has the potential to improve outcomes from both the patient and provider perspectives.

We are exploring the 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?" 

Current project status:

1. We used interviews and focus groups with patients and providers to understand what is needed from both groups to interpret genomic information. The results were used to develop and refine a genomic laboratory report that can be used by both patients and providers..
   
2. We tested the new report by comparing a group of patients and providers using the new report to a group of patients and providers using the traditional report that is only viewed by the provider and the provider communicates the results to the patient. Outcomes important to patients, such as communication, satisfaction and empowerment were measured to see if the new report is more effective.
   
3. The study showed that when compared to the usual method, the patient-facing genomic test report improved all of the outcomes important to patients. Not only did it help them communicate with their providers, but reports were used with therapists and, for some children, in the school to help with their programming. Several areas for improvement were noted and are being used to improve the report.

The patient-facing genomic laboratory report can help providers and patients answer patient-oriented questions and empowers patients to have a more active role in decisions about their healthcare. By including the patient's perspective, we created a laboratory report that not only provides test results, but facilitates improved communication between providers and patients. Shared decision making promotes patient empowerment and trust, closes the knowledge gap and improves outcomes of importance to patients.

This project, which aims to put patients, families and doctors on the same page, has recently been highlighted by the Patient-Centered Outcomes Research Institute on its website.

The project had resulted in two open-access publications: Enhancing genomic laboratory reports: A qualitative analysis of provider review and Enhancing genomic laboratory reports from the patients' view: A qualitative analysis. Two additional publications are under review and the final report on the project has been submitted for review by the funding agency, the Patient-Centered Outcomes Research Institute (PCORI).

Investigators

• Marc S Williams, MD
• Janet L Williams, MS, LGC
• Jamie Green, MD
• Alanna K Rahm, PhD, MS, LGC