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Patient Facing Genomic Test Report Project

Researchers are engaging with patients and their families in order to determine how they prefer to receive information from genetic and genomic tests. Researchers have found that patients and their 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. The challenge for patients, families and their providers is having ready access to the information that is necessary for appropriate management and coordination of care. Non-genetic providers are often not comfortable managing genetic disease. In most cases, patients have inadequate 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.

This issue will be more important as information from an individual's genes (genomic information) is used to diagnose and manage medical conditions. Currently, laboratory reports only go to providers. We believe that a new type of genomic test report, tailored for patients and partnered with a complementary provider report, will enable patients to have access to information they can understand 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 in conjunction 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 have 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 a genomic laboratory report that can be used by both patients and providers. Providers and patients have reviewed the draft report and their feedback was used to improve the report.
  2. We will begin testing 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. Outcomes that are important to patients will be measured to see if the new report is more effective.
  3. When complete, information from the study will be reviewed and used to optimize the report in order to improve the care of patients with rare disorders.

We expect to determine how the proposed genomic laboratory report can help providers and patients answer patient-oriented questions. By including the patient's perspective, we will create a laboratory report that not only will provide test results, but will facilitate improved communication between providers and patients. Shared decision making will promote patient empowerment and trust, close the knowledge gap and improve 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.