GMI creating patient-centered, plain-English reports for genomic test results
Researchers from Geisinger’s Genomic Medicine Institute are at the forefront of efforts to create meaningful ways to communicate genomic test result information to patients and to their physician/providers.
In a Patient-Centered Outcomes Research Institute (PCORI)-funded project, a team of Geisinger researchers led by Institute Director Marc S. Williams, M.D., are translating complex genomic laboratory reports into something far more simple, readable, and user-friendly for both patients and their provider/physicians, who are often not genomic specialists.
The project began in 2013 and the funded project ended in December 2016, but Geisinger staff continue to extend and refine the reports. The work may ultimately lead to the new reports being used in all clinical genomic applications at Geisinger — including the Whole Genome Sequencing program, where the prototypes have been deployed and tested, and the larger MyCode Community Health Initiative’s return-of-results program.
A modified version of the report would be used in MyCode and a separate version of the report is also being developed for use in pharmacogenomics applications.
“For example,” Williams said, “in the Whole Genome Sequencing Program.... we are trying to make a diagnosis for people who have undiagnosed diseases, so there are primary findings, if there is a diagnosis, and then there are secondary findings.
“With MyCode, this is population-based testing; since there are no indications which we are trying to diagnose, there are no primary and secondary findings. There are just findings,” Williams said. “So those kinds of formatting and explanatory issues have to be dealt with in the MyCode reports,” he said.
But, in general, the forms for all uses are the same and highly adaptable. Several other institutions, including the National Institutes of Health’s Undiagnosed Diseases Project, are looking into the possibility of using the new reporting forms for communicating genomic test results.
The reports take the information from standard laboratory test results and translate it into plain English as well as organize it based on the needs and wants of patients.
For example, patients and their providers want to know the results, but very quickly also the meaning of those results. They don’t want to have to wade through lots of extraneous information to try to deduce the significance of any findings. Are there changes to clinical care, to the treatment of an existing illness, or prophylactic actions recommended as a consequence of the results? What is the prognosis for existing illnesses? These are the kinds of things patients and doctors want to know.
“Using a user-centered design approach, we developed reports that were specific to the physician/provider and to the patient,” Williams said.
A comparative effectiveness trial pitting the old laboratory report summary against the newly developed patient-centered and provider-centered reports is complete and the results are being organized into a manuscript that will be submitted for publication, Williams said. The short answer is the reports work and patients and families find them to be valuable.
In a Patient-Centered Outcomes Research Institute (PCORI)-funded project, a team of Geisinger researchers led by Institute Director Marc S. Williams, M.D., are translating complex genomic laboratory reports into something far more simple, readable, and user-friendly for both patients and their provider/physicians, who are often not genomic specialists.
The project began in 2013 and the funded project ended in December 2016, but Geisinger staff continue to extend and refine the reports. The work may ultimately lead to the new reports being used in all clinical genomic applications at Geisinger — including the Whole Genome Sequencing program, where the prototypes have been deployed and tested, and the larger MyCode Community Health Initiative’s return-of-results program.
A modified version of the report would be used in MyCode and a separate version of the report is also being developed for use in pharmacogenomics applications.
“For example,” Williams said, “in the Whole Genome Sequencing Program.... we are trying to make a diagnosis for people who have undiagnosed diseases, so there are primary findings, if there is a diagnosis, and then there are secondary findings.
“With MyCode, this is population-based testing; since there are no indications which we are trying to diagnose, there are no primary and secondary findings. There are just findings,” Williams said. “So those kinds of formatting and explanatory issues have to be dealt with in the MyCode reports,” he said.
But, in general, the forms for all uses are the same and highly adaptable. Several other institutions, including the National Institutes of Health’s Undiagnosed Diseases Project, are looking into the possibility of using the new reporting forms for communicating genomic test results.
The reports take the information from standard laboratory test results and translate it into plain English as well as organize it based on the needs and wants of patients.
For example, patients and their providers want to know the results, but very quickly also the meaning of those results. They don’t want to have to wade through lots of extraneous information to try to deduce the significance of any findings. Are there changes to clinical care, to the treatment of an existing illness, or prophylactic actions recommended as a consequence of the results? What is the prognosis for existing illnesses? These are the kinds of things patients and doctors want to know.
“Using a user-centered design approach, we developed reports that were specific to the physician/provider and to the patient,” Williams said.
A comparative effectiveness trial pitting the old laboratory report summary against the newly developed patient-centered and provider-centered reports is complete and the results are being organized into a manuscript that will be submitted for publication, Williams said. The short answer is the reports work and patients and families find them to be valuable.
