Results Summary

What was the project about?

To diagnose rare genetic conditions, doctors look at patients’ genetic data and a phenotypic profile. A phenotypic profile is a record of all the physical traits of a condition. It uses a list of standard terms called Human Phenotype Ontology, or HPO. Doctors and clinic staff do a thorough exam with the patient to create the profile. The exam takes a long time and often more than one visit.

Patients may be able to create phenotypic profiles themselves using surveys. These surveys may take less time than clinic visits. But it is unclear whether patient surveys can provide enough details to correctly identify conditions.

In this project, the research team tested two surveys:

  • Phenotypr. This survey asks patients to describe their symptoms and then matches the descriptions to plain language HPO or clinical HPO terms.
  • GenomeConnect. This survey uses multiple choice questions to asks patients about their health and symptoms.

What did the research team do?

First the research team used a computer program to create phenotypic profiles from the surveys for all 7,344 known genetic conditions. For each condition, the program mimicked how 20 patients would respond to the surveys. The team checked these profiles against published profiles for each condition. Published profiles include a standard set of typical symptoms for each condition.

Then the research team tested the surveys with 282 patients. Patients had 1 of 257 different rare genetic conditions. The team assigned the patients by chance to take one or both surveys. The team also interviewed 17 patients who took both surveys to see which one they preferred.

Patients, doctors, and a genetic counselor helped design the study.

What were the results?

Both surveys were able to accurately identify rare genetic conditions. When comparing published profiles with survey profiles, use of the plain language HPO had more exact matches.

Patients preferred GenomeConnect over Phenotypr.

What were the limits of the project?

It was hard to compare how well the surveys worked because the number of patients with each condition was small.

Future research could test the surveys with a larger group of patients with rare genetic conditions.

How can people use the results?

Clinics can use these results when considering how to create phenotypic profiles to diagnose rare genetic conditions.

Final Research Report

View this project's final research report.

Peer-Review Summary

Peer review of PCORI-funded research helps make sure the report presents complete, balanced, and useful information about the research. It also assesses how the project addressed PCORI’s Methodology Standards. During peer review, experts read a draft report of the research and provide comments about the report. These experts may include a scientist focused on the research topic, a specialist in research methods, a patient or caregiver, and a healthcare professional. These reviewers cannot have conflicts of interest with the study.

The peer reviewers point out where the draft report may need revision. For example, they may suggest ways to improve descriptions of the conduct of the study or to clarify the connection between results and conclusions. Sometimes, awardees revise their draft reports twice or more to address all of the reviewers’ comments. 

Peer reviewers commented and the researchers made changes or provided responses. Those comments and responses included the following:

  • The reviewers noted that the study population had little diversity and asked the researchers to comment on ways that people from minority groups or of low socioeconomic status might participate in this research in the future. The researchers added the homogeneity of the study population to their limitations section and described ideas for addressing this issue in their section on future research, in the discussion.
  • The reviewers liked the idea of producing a top 10 list of possible diagnoses and conditions based on patient-reported phenotyping but were disappointed to find that there could be hundreds of diseases ranked in the top 10 list. The researchers added information to the results section of the report to clarify this point. They also noted that the goal of the tool they created was to help clinicians diagnose patients using patient-reported data, not for patients to diagnose themselves. The researchers admitted that for some patients with more common disease characteristics, clinicians will still need to work through many possible diagnoses.

Conflict of Interest Disclosures

Project Information

Ingrid A. Holm, MD, MPH
Melissa Haendel, PhD
Boston Children's Hospital
Realization of a Standard of Care for Rare Diseases Using Patient-Engaged Phenotyping

Key Dates

March 2017
July 2021

Study Registration Information


Has Results
Award Type
Health Conditions Health Conditions These are the broad terms we use to categorize our funded research studies; specific diseases or conditions are included within the appropriate larger category. Note: not all of our funded projects focus on a single disease or condition; some touch on multiple diseases or conditions, research methods, or broader health system interventions. Such projects won’t be listed by a primary disease/condition and so won’t appear if you use this filter tool to find them. View Glossary
Intervention Strategy Intervention Strategies PCORI funds comparative clinical effectiveness research (CER) studies that compare two or more options or approaches to health care, or that compare different ways of delivering or receiving care. View Glossary
State State The state where the project originates, or where the primary institution or organization is located. View Glossary
Last updated: October 18, 2023