Clinical trial NCT06914726: Patient Centered Clinical Decision Support for Hereditary Cancer Syndromes
Official title: Randomized Trial to Improve Care of Patients With Hereditary Cancer Syndromes
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: NA
Conditions: Hereditary Breast/Ovarian Cancer (brca1, brca2)
Lynch Syndrome
Genetic Variation
HBOC Syndrome
Hereditary Cancer Syndromes
Keywords: Clinical Decision Support
Shared Decision Making
Hereditary Cancer Syndromes
Genetics
Genetic variations
HBOC
hereditary breast/ovarian cancer
BRCA1
BRCA2
Lynch Syndrome
Genetic variants
Lead sponsor: HealthPartners Institute
Sponsor class: OTHER
Collaborators: name: National Cancer Institute (NCI)
First posted: 2025-04-06
Enrollment: 2488
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: HEALTH_SERVICES_RESEARCH

Brief summary: The goal of this clinical trial is to address care gaps for participants at high risk of breast and ovarian cancer (HBOC), or Lynch syndrome (LS) because of testing positive for specific genetic variants. A patient-centered clinical decision support (PC-CDS) tool will help identify participants with genetic variations and display recommendations for referrals and testing to the clinician and participant at a primary care visit. The main question the study aims to answer is:

- Does clinical decision support for participants with hereditary cancer syndromes improve the use of evidence-based cancer prevention care.

Participants being seen in the PC-CDS group are compared to participants being seen in usual care (UC) to see if they are up to date on guideline-based cancer prevention care and to see if participants in the PC-CDS group report more shared decision making and higher rates of self-management of their genetic cancer risks.

Participants will be asked to answer survey questions.

Detailed description: Among the estimated one million Americans who have screened positive for specific genetic variants related to Hereditary Breast and Ovarian Cancer Syndrome (HBOC) or Lynch Syndrome (LS), less than half are up to date on evidence-based cancer prevention measures that may increase early detection of syndrome-related cancers or prevent these cancers altogether. Most patients newly diagnosed with hereditary cancer syndromes receive extensive initial care from genetic counselors or oncology teams but for many patients without a cancer diagnosis at the time of syndrome identification, access to regular follow-up care from oncologists and genetic counselors is limited. Pilot data show that the most frequent source of care for patients with HBOC or LS is the primary care setting, but many primary care clinicians (PCC) are unfamiliar with rapidly evolving cancer prevention guidelines for patients with HBOC or LS. Although PCCs are ideally positioned to make timely referrals to subspecialists for indicated cancer prevention care and procedures, access to evidence-based clinical decision support to optimize care for patients with these hereditary cancer syndromes does not exist.

PCCs provide care to over 80% of patients with HBOC or LS each year and are trained in shared decision making and coordination of care. However, the majority of PCCs are unaware of current recommendations for HBOC and LS and thus often fail to arrange appropriate referrals or procedures, including referrals to genetic counselors. The intervention targets these System and PCC-related barriers such as lack of awareness of the genetic condition, lack of knowledge of current evidence-based variant- specific care recommendations, and lack of timely referral for cancer prevention tests or procedures recommended for these high-risk patients. Both average-risk and high-risk patients are more likely to receive recommended cancer screening procedures when advised by their PCC.

The PC-CDS intervention also targets patient-related barriers to care, such as lack of awareness that certain tests or procedures are due, and lack of awareness of the benefits of certain interventions, tests, or procedures, and facilitates timely referral for access to subspecialists who can provide recommended services and procedures. Screening for CDC Tier 1 genetic conditions is rapidly increasing, but many of those who screen positive for HBOC or LS are not well-informed of evolving evidence-based care options. Current oncology teams are staffed primarily to deal with active management of cancer and have limited capacity to provide long-term care to large numbers of patients without diagnosed cancers. An estimated 33-50% of those diagnosed with these hereditary cancer syndromes do not complete a visit with a genetic counselor, with well-documented disparities in care for individuals with low income, low education, residence in inner city or rural areas, or membership in underserved racial/ethnic groups. Many patients with HBOC or LS are unaware of their risks, and the substantial health benefits obtainable by early detection and intervention; or lack the ability to coordinate their care across multiple subspecialists and care team members.

The PC- CDS provides each patient an updated list of variant-specific recommended care options and encourages and enables patients to have informed discussions of evidence-based care options with their PCCs or other trusted physicians. PCC referrals and suggestions will both directly and indirectly (through attitudes towards genetic conditions and intentions to access care) influence patient actions to adhere to evidence-based guidelines including (i) timely referrals to subspecialists (such as genetic counselors, oncologists, gastroenterologists, gynecologists, urologists, dermatologists, or surgeons) and (ii) engagement in recommended cancer prevention protocols and screening procedures.

This project provides evidence-based cancer prevention care recommendations to patients with HBOC or LS and their PCCs at primary care encounters when a given patient is not up to date on NCCN-recommended cancer prevention referrals and procedures. This specific application of health informatics technology to care of patients with these and other genetic variants is novel, in part because it relies on very recent advances in health informatics, increased rates of genetic screening within healthcare systems, and an accelerating (and rapidly evolving) knowledge base that supports an evidence-based set of variant-specific care recommendations. The intervention takes advantage of these recent developments and is designed to rapidly translate new genetic knowledge into evidence-based patient-specific clinical care. The variant-specific PC-CDS does not yet exist in primary care settings, and this project will provide a much-needed assessment of the impact of a PC-CDS intervention on cancer prevention care, shared decision making, and self-efficacy in managing hereditary cancer risks, as well as PCC knowledge of HBOC and LS cancer prevention care.

The web-based nature of the PC-CDS system, its prior success in improving primary care for a wide range of other chronic conditions, and its high use rates in primary care settings suggest that this approach to care improvement may be an effective strategy to increase appropriate referrals and evidence-based preventive care of adults with these hereditary cancer syndromes.

Eligibility criteria: Inclusion Criteria: The patient must meet all the following inclusion criteria on date of the Index Visit:

1. Aged 18 years or more at index clinical encounter,
2. Existing genetic testing or problem list evidence of HBOC or LS,
3. Index clinical encounter is with a PCC (family practice, general internal medicine, nurse practitioner, or physician assistant) at a randomized primary care clinic during the accrual period,
4. At the time of the index clinical encounter have EITHER (i) Evidence of having HBOC and not up-to- date on selected variant-specific cancer prevention care OR (ii) Evidence of having LS and not up-to-date on selected variant gene-specific cancer prevention care

Exclusion Criteria:

1. Diagnosis of dementia, OR
2. Currently receiving active treatment for cancer, OR
3. In long-term care, palliative care, or hospice care.

Primary outcomes:
measure: Resolved care gaps
timeFrame: 18 months after index date
measure: Shared decision making
timeFrame: 12 months after index date
measure: Self-eﬃcacy
timeFrame: 12 months after index date
Secondary outcomes:
measure: Resolved care gaps
timeFrame: 12 months after index date
Other outcomes:
Locations:
city: Minneapolis
country: United States
facility: HealthPartners Medical Group
state: Minnesota
Study officials:
affiliation: HealthPartners Institute
name: Patrick J. O'Connor, MD, MPH, MA
role: PRINCIPAL_INVESTIGATOR
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