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Family History App in Personalized Medicine (FHAMe)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04726319
Recruitment Status : Recruiting
First Posted : January 27, 2021
Last Update Posted : October 5, 2021
Information provided by (Responsible Party):
June Carroll, University of Toronto

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Cancer, Breast Cancer, Ovarian Cancer, Colorectal Cancer, Prostate Melanoma Coronary Artery Disease Diabetes Mellitus, Type 2 Other: FHAMe Intervention Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 1000 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Intervention Model Description: Parallel cluster-randomized controlled trial
Masking: None (Open Label)
Primary Purpose: Screening
Official Title: Family History App in Personalized Medicine (FHAMe): A Pilot Randomized Controlled Trial
Actual Study Start Date : September 20, 2021
Estimated Primary Completion Date : March 2022
Estimated Study Completion Date : December 2023

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Melanoma
MedlinePlus related topics: Family Issues

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.

Primary Outcome Measures :
  1. Proportion of patients with new documentation of family history in EMR [ Time Frame: 30 days post visit ]
    The proportion of patients with new documentation of family history in the EMR within 30 days after the visit, compared to patients in waitlist practices

  2. Positive family history documentation [ Time Frame: 30 days post visit ]
    The proportion of patients in the intervention arm with positive documented family history in the EMR

  3. Family history of breast/ovarian/colorectal/prostate cancer [ Time Frame: 30 days post visit ]
    Proportion of patients with documented family history of cancer in the EMR measured through the number of 1st degree relatives

  4. Changes in risk-appropriate screening based on family history [ Time Frame: 30 days ]
    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

Secondary Outcome Measures :
  1. Recruitment rate [ Time Frame: 6 months ]
    Rate of practice and participant recruitment during the intervention period

  2. Participation rate [ Time Frame: 6 months ]
    Proportion of patients completing the questionnaire, and providers attending the webinar, reviewing family history, using clinical tools, and having family history discussions with patients

  3. Usage of family history information [ Time Frame: 30 days ]
    Exploring how family history was obtained and used by patients and physicians through questionnaires and qualitative interviews

  4. Attitudes towards the FHAMe intervention [ Time Frame: 30 days ]
    Exploring patient and team experiences and attitudes to the innovation through questionnaires and qualitative interviews

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   30 Years to 69 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04726319

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Contact: June Carroll, MD 416-586-4800 ext 5158

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Canada, Ontario
Mount Sinai Hospital Recruiting
Toronto, Ontario, Canada, M5G 1X5
Contact: June Carroll, Dr.   
Principal Investigator: June C Carroll, MD CCFP         
Sponsors and Collaborators
University of Toronto
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Principal Investigator: June Carroll, MD MOUNT SINAI HOSPITAL
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Responsible Party: June Carroll, Principal Investigator, University of Toronto Identifier: NCT04726319    
Other Study ID Numbers: 20-0270-E
First Posted: January 27, 2021    Key Record Dates
Last Update Posted: October 5, 2021
Last Verified: September 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by June Carroll, University of Toronto:
Family history
Family medicine
Personalized medicine
Additional relevant MeSH terms:
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Breast Neoplasms
Ovarian Neoplasms
Colorectal Neoplasms
Prostatic Neoplasms
Coronary Artery Disease
Diabetes Mellitus, Type 2
Coronary Disease
Myocardial Ischemia
Heart Diseases
Cardiovascular Diseases
Arterial Occlusive Diseases
Vascular Diseases
Diabetes Mellitus
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases
Neoplasms by Site
Breast Diseases
Skin Diseases
Endocrine Gland Neoplasms
Ovarian Diseases
Adnexal Diseases
Genital Neoplasms, Female
Urogenital Neoplasms
Gonadal Disorders
Intestinal Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms