Strategy for Management of Patients With Hereditary Cancer Syndromes (HCS) in a Rural Environment

This single-arm, prospective, interventional study will assess the feasibility and impact of a structured longitudinal follow-up program for patients with Hereditary Cancer Syndromes (HCS). Eligible participants will have a known pathogenic germline variant in a cancer risk gene identified by a CLIA-approved lab at least one year prior to enrollment. All participants will be seen at baseline and followed clinically for two years, with additional visits as clinically indicated. Each participant will receive an individualized care plan developed by cancer genetics providers and supported by annual follow-up visits.

The primary objective is to assess whether participation in this program increases adherence to National Comprehensive Cancer Network (NCCN) guideline-recommended cancer screening and prevention strategies (e.g., surveillance imaging, colonoscopy, prophylactic surgery). Secondary objectives include evaluating changes in participant distress and perceived care coordination over time, and examining how rurality (defined using RUCA codes) affects outcomes.

Participants will complete three study instruments at baseline, 12-month, and 24-month follow-up visits:

A gene-specific adherence survey administered by the genetics team,

The Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire to assess distress,

The Care Coordination Index (CCI) to evaluate patient-perceived coordination of care.

A retrospective chart review of previously seen HCS patients will also be conducted to estimate baseline adherence rates and support feasibility assessments. Statistical analyses will use generalized probit and linear models to evaluate changes over time and assess effect modification by demographic and clinical variables such as age, sex, gene mutation, and rurality.

This study will generate critical pilot data to inform future controlled studies and improve access to high-quality cancer prevention care, particularly for underserved rural populations.

Inclusion criteria

• Patients of all genders must be ≥ 18 years of age.
• Patients must have a known pathogenic germline variant in a cancer risk gene that was identified by a CLIA-approved lab more than one year ago.
• Patients must be able to accurately provide self-report data (i.e., per clinical judgment, cognitive function is intact).
• Patients must be able to complete questionnaires in English.
• Patients must have the ability to provide informed consent.

Exclusion criteria

• Patients who tested positive for a germline pathogenic variant associated with cancer risk < 1 year ago are not eligible.