Family History App in Personalized Medicine (FHAMe)

Family History App in Personalized Medicine (FHAMe): A Pilot Randomized Controlled Trial

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Coronary Artery Disease; Melanoma; Diabetes Mellitus, Type 2; Cancer, Breast; Cancer, Prostate; Cancer, Ovarian; Cancer, Colorectal
• Intervention / Treatment: Other: FHAMe Intervention

Detailed Description

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.

• Study Type: Interventional
• Enrollment (Actual): 627
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada, M5G 1X5
      • Mount Sinai Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 30 years to 69 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

• 30-69 years of age

Exclusion Criteria:

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Intervention; In addition to usual care, patients will be asked to answer questions about any family history through the use of a questionnaire.	Other: FHAMe Intervention; Patients will receive an invitation email prior to their scheduled clinical visit which includes information about the study, a link to the YouTube patient presentation, and a link to the consent form and questionnaire. Patients will be invited to fill out the questionnaire prior to their appointment. After patients complete the initial questionnaire, physicians will receive an EMR message on the day of patient's clinic visit alerting them that patient family history information is available and to complete the Family History Action Form. They will be prompted to respond to the message which will open the action form and ask what action the provider intends to take with this family history information. The form will then link to management support tools for use during the patient visit. All participants will attend their clinical visit after which they will receive a post-visit electronic survey regarding their clinical visit and whether family history was reviewed with their provider.
No Intervention: Usual Care; Patients receive usual care, which consists of health care providers inquiring about and dealing with family history as they would in usual practice.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Proportion of patients with new documentation of family history in EMR	The proportion of patients with new documentation of family history in the EMR within 30 days after the visit, compared to patients in control group practices	30 days post visit
Positive family history documentation	The proportion of patients in the intervention arm with positive documented family history in the EMR, compared to patients in control group practices	30 days post visit
Proportion of patients in each study arm with new documentation of family history in EMR	The proportion of patients with new documentation of family history in the EMR for each study arm as a whole, over the full 6-month period of the study	6 months
Proportion of patients, for each consenting clinician, with new documentation of family history in EMR	The proportion of patients with new documentation of family history in the EMR for each consenting clinician, 6 months prior to the intervention and 6 months after	1 year
Family history of breast/ovarian/colorectal/prostate cancer	Proportion of patients with documented family history of cancer in the EMR measured through the number of 1st degree relatives	30 days post visit
Changes in risk-appropriate screening based on family history	Through the use of UTOPIAN data which is routinely collected and qualitative interviews with family physicians using semi-structured interview guides, we will explore whether the FH strategy enables risk-appropriate screening based on FH, and referral of patients at high FH risk to genetics	30 days post visit

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Recruitment rate	Rate of practice and participant recruitment during the intervention period	6 months
Participation rate	Proportion of patients completing the questionnaire, and providers attending the webinar, reviewing family history, using clinical tools, and having family history discussions with patients	6 months
Usage of family history information	Exploring how family history was obtained and used by patients and physicians through questionnaires and qualitative interviews	30 days
Attitudes towards the FHAMe intervention	Exploring patient and team experiences and attitudes to the innovation through questionnaires and qualitative interviews	30 days

Collaborators and Investigators

• Sponsor: University of Toronto
• Investigators: Principal Investigator: June Carroll, MD, Mount Sinai Hospital

Study record dates

Study Major Dates

• Study Start (Actual): September 20, 2021
• Primary Completion (Actual): June 30, 2022
• Study Completion (Estimated): December 1, 2024

Study Registration Dates

• First Submitted: January 22, 2021
• First Submitted That Met QC Criteria: January 22, 2021
• First Posted (Actual): January 27, 2021

Study Record Updates

• Last Update Posted (Actual): November 29, 2023
• Last Update Submitted That Met QC Criteria: November 28, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: Genetics; Personalized medicine; Family history; Family medicine
• Additional Relevant MeSH Terms: Digestive System Diseases; Myocardial Ischemia; Heart Diseases; Cardiovascular Diseases; Vascular Diseases; Glucose Metabolism Disorders; Metabolic Diseases; Skin Diseases; Arteriosclerosis; Arterial Occlusive Diseases; Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Genital Neoplasms, Female; Endocrine System Diseases; Ovarian Diseases; Adnexal Diseases; Gonadal Disorders; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Diabetes Mellitus; Endocrine Gland Neoplasms; Genital Neoplasms, Male; Breast Diseases; Prostatic Diseases; Colonic Diseases; Intestinal Diseases; Intestinal Neoplasms; Rectal Diseases; Coronary Disease; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Genital Diseases, Male; Genital Diseases; Genital Diseases, Female; Coronary Artery Disease; Diabetes Mellitus, Type 2; Breast Neoplasms; Prostatic Neoplasms; Colorectal Neoplasms; Ovarian Neoplasms
• Other Study ID Numbers: 20-0270-E

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No