Closing the GAPS: Guideline Adherence, Prevention and Surveillance in Hereditary Cancer

Enhancing Information Management for Young Adults After Genetic Cancer Risk Testing

The goal of this clinical trial is to see if a software platform can improve cancer screening in young adults with genetic risk for cancer.

The trial will also help improve the software platform (Nest). The main questions it aims to answer are:

• Do Nest users know more about their cancer risks and recommended care than non-users?
• Do Nest users have less psychological distress than non-users?
• Do Nest users share cancer risks with family and other doctors more than non-users?
• Are Nest users more likely than non-users to have up-to-date care plans?

Researchers will compare Nest users to non-users to see if the Nest users are more likely to do recommended cancer screening.

Participants will:

• Have a genetic counseling or follow up visit
• Take a post-visit survey
• Intervention arm only: use the Nest Patient Navigator
• Complete screening and follow-up care recommended by doctors

Study Overview

• Status: Recruiting
• Conditions: Hereditary Cancer Syndromes; Clinical Decision Support
• Intervention / Treatment: Device: Nest, an electronic medical record (EMR)-integrated software platform to deliver longitudinal, genetics-based care at scale.

Detailed Description

The overall objective of this project is to refine and study Nest, a software platform that integrates genetic data into patient care, with a goal of improving adherence to recommended care and empowering patients and clinicians to utilize genetic information longitudinally. Nest stores structured genetic results in the electronic medical record (EMR) and provides an interface for clinicians to order guidelines-based, personalized care plans with automated charting. For patients, the mobile friendly platform serves as a secure tool to store results, understand risks and recommended care, adhere to care, and share results with at-risk relatives. To facilitate continuity of care, patients can share genetic results and care plans with other clinicians. For this application, the investigators propose two phases. During Phase 1, the investigators will pilot the EMR-integrated Nest platform to ensure that the intervention is feasible and acceptable to clinicians and patients. Phase 2 will test Nest efficacy to improve patient and clinician experiences and outcomes, including patient knowledge of cancer risks and recommended care, and will assess implementation outcomes to facilitate future dissemination. The investigators will leverage a team with complementary expertise in genomic data, business, software development, and care of young adults with cancer risk. This team has already successfully collaborated in development of a patient-facing intervention for adolescents and young adults (AYAs) with cancer risk syndromes, and now seeks to meet the critical need for integrated and coordinated care, crossing patients, clinicians, and health systems. The long-term goal of this application is to harness an EMR integrated platform to improve care and outcomes for AYAs with cancer risk syndromes, as an initial step toward genomic data integration for an ever-increasing array of conditions with clinical implications.

Phase 1 Aims:

Aim 1: Pilot Nest among 20 young adult hereditary cancer patients and up to 20 clinicians, refining implementation to ensure feasibility and acceptability. Our working hypothesis is that the Nest intervention will be feasible and acceptable to patients and clinicians.

Phase 2 Aims:

In Phase 2, the investigators will Implement the Nest intervention by conducting a randomized trial at a single large cancer center and its associated community-based satellites.

Aim 1: Measure the impact of the Nest intervention on patient knowledge of cancer risk and recommended care, psychological distress, and information sharing with family and clinicians.

Our working hypothesis is that patients assigned to the Nest intervention will have increased knowledge of cancer risks and recommended care, without increased psychological distress, and will have increased frequency of information sharing with family and other clinicians.

Aim 2: Examine impact of the Nest intervention on clinician behavior, including guideline-concordant orders and referrals as well as EMR documentation. Our working hypothesis is that patients assigned to the Nest intervention will have higher rates of guidelines-concordant orders and referrals and Nest Clinical Decision Support (CDS) summaries in EMR documentation.

Aim 3: Evaluate implementation outcomes, including patient and clinician utilization of Nest features, to facilitate future dissemination. The investigators will examine the frequency of utilization of Nest features, including patient access and sharing of information and clinician use of orders and documentation templates, to assess features that are most useful and/or in need of further refinement.

Impact: At the completion of the proposed research, our expected outcomes are: to have a refined platform that results in increased knowledge, information sharing, and guidelines concordant care.

• Study Type: Interventional
• Enrollment (Estimated): 100
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Jennifer W Mack, MD; Phone Number: (617) 632-6622; Email: Jennifer_Mack@dfci.harvard.edu

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02215
      • Recruiting
      • Dana Farber Cancer Institute

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Ages 18-49 years, inclusive
• previous cancer genetic testing with a finding of a pathogenic or likely pathogenic variant resulting in an increased risk of cancer warranting clinical management.
• English-speaking and -reading
• Receiving care at Dana Farber Cancer Institute
• Not in active cancer therapy at the time of approach

Exclusion Criteria:

• Age <18 or >49 years
• Has not had genetic testing for hereditary cancer syndromes or has been tested but no pathogenic or likely pathogenic variant was identified.
• Non-English speaking and reading
• Not receiving care at Dana Farber Cancer Institute
• Active cancer with therapy in progress

Study Plan

How is the study designed?

Design Details

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

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
No Intervention: Control Arm; Patients in the control arm will complete a standard genetic counseling or follow-up visit and a post-visit survey.
Experimental: Intervention Arm; Patients in the intervention arm will complete a genetic counseling or follow-up visit with a clinician using Nest Clinical Decision Support and a post visit-survey. Intervention arm patients will be given access to the Nest Patient Navigator.	Device: Nest, an electronic medical record (EMR)-integrated software platform to deliver longitudinal, genetics-based care at scale.; The Nest software platform includes the Nest Care Studio, Nest Patient Navigator and the Analytics Dashboard. Nest Care Studio is a clinician facing portal that can be used standalone or electronic medical record (EMR) integrated. Care Studio enables clinicians to effectively manage patients' genetic information over time. Clinicians can see a list of patients that meet criteria for testing, run risk assessment calculations, order genetic tests, manage patients based on results and view education modules.The Nest Patient Navigator is a secure mobile device accessible platform that provides a centralized location for patients to store, manage, and follow-up with their genetic results. The Analytics Dashboard is an interactive dashboard that can track outcomes of genomic programs and trigger interventions to optimize them.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Acceptability of Intervention Measure (AIM)	A 4-item measure of intervention acceptability on a 5-point Likert response scale designed for a range of stakeholders. Demonstrated to be associated with intervention success.	within 7 days of visit
Gist Comprehension of Genetic Cancer Risk	Modified items from the Gist Comprehension of Genetic Cancer Risk (alpha=.85) ask patients their likelihood of future cancer on a 5-point Likert scale, higher score indicating greater comprehension.	Baseline, within 7 days of visit
Knowledge of Cancer Screening	An 11-item true-false scale (Cronbach's alpha=.81) will measure knowledge of cancer screening recommendations. Higher score indicates greater knowledge, minimum score=0, maximum score=11. Items will be modified for cancer risk syndromes under study.	Baseline, within 7 days of visit
Psychosocial Aspects of Hereditary Cancer (PAHC)	A 26-item questionnaire organized into six problem domains: genetics, practical issues, family, living with cancer, emotions, and children. Higher score indicates greater emotional distress. Validated in adults with hereditary cancer risk.	Baseline, within 7 days of visit
Distress Thermometer (DT)	A visual-analog scale from 0-"no distress" to 10-"extreme distress" to assess general psychological distress. Higher score indicates greater distress. Pairing with the PAHC enhances sensitivity and specificity.	Baseline, within 7 days of visit

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Uncertainty of Illness Measures	self-report - Mischel Illness Uncertainty Scale (Cronbach's α=.74-.92).5-point Likert scale ranging from "Strongly Agree" to "Strongly Disagree". Higher scores indicate greater uncertainty.	Baseline, within 7 days of visit

Collaborators and Investigators

• Sponsor: Nest Genomics
• Collaborators: Dana-Farber Cancer Institute; National Human Genome Research Institute (NHGRI)
• Investigators: Principal Investigator: Huma Q Rana, MD, Dana-Farber Cancer Institute; Principal Investigator: Jennifer W Mack, MD, Dana-Farber Cancer Institute

Publications and helpful links

Helpful Links

• Nest Genomics

Study record dates

Study Major Dates

• Study Start (Actual): February 10, 2026
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): September 1, 2027

Study Registration Dates

• First Submitted: October 18, 2024
• First Submitted That Met QC Criteria: October 21, 2024
• First Posted (Actual): October 23, 2024

Study Record Updates

• Last Update Posted (Actual): February 25, 2026
• Last Update Submitted That Met QC Criteria: February 23, 2026
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Keywords: Clinical Decision Support; Cancer Prevention; Guideline Adherence; Cancer Surveillance; Hereditary Cancer Syndromes; Adolescent and Young Adult Cancer
• Additional Relevant MeSH Terms: Neoplasms; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplastic Syndromes, Hereditary
• Other Study ID Numbers: 22-657; 1R42HG013908-01 (U.S. NIH Grant/Contract)

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
• product manufactured in and exported from the U.S.: No