One of PCORI’s goals is to improve the methods that researchers use for patient-centered outcomes research. PCORI funds methods projects like this one to better understand and advance the use of research methods that improve the strength and quality of comparative effectiveness research.
This research project is in progress. PCORI will post the research findings on this page within 90 days after the results are final.
What is the research about?
Some genetic conditions are rare and hard to diagnose. Doctors try to diagnose the patient’s health problem using two types of information:
- The genotype uses the patient’s DNA to identify specific gene variations that match a known genetic condition.
- The phenotype is a record of all aspects of the patient’s health problem, including how the body functions.
Genetic tests are becoming more common. But doctors don’t have a standard way to collect complete phenotype information. Clinic staff record phenotype information during a thorough exam with the patient. But not all clinics collect the same information. Also, such visits take a long time. The research team wants to see if patients can supply this information themselves using an online survey. They also want to know if phenotype information can be detailed and accurate enough to help identify the patient’s health problem correctly.
Who can this research help?
Clinics and doctors focused on genetic conditions can use information from this study to plan how to collect information from patients.
What is the research team doing?
First, the research team is using two ways to collect phenotype information. One is a survey called GenomeConnect. This survey collects information from patients about their health and symptoms. The survey then converts the information into the standard language doctors use to describe phenotypes. This language is called Human Phenotype Ontology, or HPO. The second survey is called the layperson HPO survey. This survey is a patient version of the set of descriptions doctors use to gather information when doing a phenotype exam.
The team is creating a profile of every known genetic condition based on how it would be described in the two surveys. They are comparing these profiles with a set of existing full phenotypes for those diseases to see if the surveys are collecting complete information.
Next, the research team is testing the GenomeConnect and layperson HPO surveys with 250 patients who have a genetic condition. Patients use GenomeConnect or the patient version of HPO to describe their health problem. The team is looking at patients’ answers on each survey to see how closely they match full phenotype information on the patient’s condition. The team wants to know if either survey is more accurate in giving doctors information needed to help diagnose a genetic condition.
Patients and genetic testing experts are working with the research team to plan and conduct the study.
Research methods at a glance
|Goal||Test GenomeConnect and layperson HPO surveys against standard phenotype profiles for known genetic conditions|
|Approach||Using simulation studies and existing data, test and revise GenomeConnect and layperson HPO surveys. Pilot test the revised surveys among patients with diagnosed genetic conditions to see if these approaches to collecting phenotype information from patients are likely to produce clinically useful information.|