Family History App in Personalized Medicine

  • End date
    Dec 8, 2023
  • participants needed
  • sponsor
    University of Toronto
Updated on 10 October 2021
heart disease
precision medicine
Accepts healthy volunteers


A complete family history (FH) may identify persons at high risk for certain conditions. They can be offered genetic testing and life-saving screening and treatment. In practice, complete FH is rarely collected or entered into the electronic medical record (EMR). The Family History Screening Questionnaire is a survey patients complete to tell whether they are at increased risk of specific cancers, heart disease or diabetes. We will test a new way to record FH that includes an app to improve use of FH by family physicians and patients. The strategy includes education for patients and physicians about the importance of FH; patient completion of the FH questionnaire prior to appointments; and prompts in the EMR. We expect this to help family physicians and patients interpret FH and make the best decisions. We will assess the proportion of patients with new EMR FH information. We will explore if the strategy increases appropriate referrals for screening and genetic consultation for those at increased FH risk. We will also obtain patients' and physicians' feedback on this strategy. This new approach may improve FH information exchange between patients and physicians, encourage shared decision-making and reduce cancer deaths and chronic disease burden.


Family history (FH) is one of the cornerstones of medicine, and provides a glimpse of the genetic make-up of a family. Family physicians (FPs) are in an ideal position to identify those at risk of harboring a genetic mutation requiring further genetics assessment. A challenge in the family medicine clinic is obtaining an adequate FH to triage appropriate patients for further assessment and management. Patients with an identified germline mutation have a variety of therapeutic options including prophylactic surgeries and high risk screening for hereditary cancer syndromes, cardiac devices for inherited cardiac conditions, and intensive statin therapy for those with hypercholesterolemia, all of which can be potentially life-saving.

A systematic review showed that the application of systematic tools which enable information gathering, improves FH accuracy and completeness. Patient-completed FH questionnaires are gaining attention with evidence of reasonable completeness and accuracy. However, challenges have been reported in incorporating these tools including uploading FH results into the EMR and into management strategies.

To address the challenge of obtaining an adequate FH and triaging appropriate patients for further assessment and possibly life-saving interventions, we propose to use a simple FH questionnaire, the "Family History Screening Questionnaire", which will be filled out by patients electronically with the results integrated into the EMR to identify families at risk of inherited diseases.

Overarching Research Objectives:

  • To evaluate an innovative strategy to collect family history (FH) and improve personalized primary care. Strategies include: a novel Family History Screening questionnaire (FHSQ) (app), provider alerts, seamless integration into the electronic medical record (EMR), electronic clinical decision support through point-of-care tools, and patient and provider education
  • Primary objective: to determine if this innovative strategy will increase the proportion of intervention patients that have updated documentation of family history in the EMR.
  • Secondary objective: to describe contextual factors that may influence implementation of this family history strategy into primary care. To explore whether the intervention led to increased discussion about FH and resulted in more personalized screening/management.

This study will determine if increasing awareness of the importance of FH and facilitating collection through a novel FH app with physician alerts, integration into the EMR, electronic decision support and resources, is associated with: increased collection of FH in the EMR, FH discussion by patients and clinicians and personalized, risk appropriate screening/management. Development and implementation of this novel FH app and strategy have the potential to improve FH information exchange between patients and primary care providers, facilitate shared decision-making about personalized screening and management based on FH risk, reduce cancer deaths and chronic disease burden and build the foundation for personalized medicine.

Condition Coronary Artery Disease, NIDDM, cancer, ovarian, Myocardial Ischemia, Breast Cancer, ovarian carcinomas, Diabetes Mellitus, Type 2, type 2 diabetes mellitus, type ii diabetes, Diabetes Mellitus Type 2, Prostate Cancer, Early, Recurrent, Malignant neoplasm of prostate, cancer of the ovary, Malignant Melanoma, diabetes type 2, Colon cancer; rectal cancer, Metastatic Melanoma, Prostate Cancer, melanoma, Recurrent Ovarian Cancer, cancer ovarian, noninsulin-dependent diabetes mellitus, Melanoma, Colorectal Cancer, skin cancer, Coronary heart disease, type 2 diabetes, Colon Cancer Screening, Ovarian Cancer, Skin Cancer, Cardiac Ischemia
Treatment FHAMe Intervention
Clinical Study IdentifierNCT04726319
SponsorUniversity of Toronto
Last Modified on10 October 2021


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Inclusion Criteria

-69 years of age

Exclusion Criteria

Must be patients of staff physicians (i.e. no resident patients)
Must have email address registered in the OCEAN system
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