Patient Centered Clinical Decision Support for Hereditary Cancer Syndromes

NCT06914726 | Enrolling By Invitation DMC

• 2 other identifiers: 23-4001R01CA283332-01A1
• Study Type: interventional
• Target: 2,488
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (3)

• Resolved care gaps

  Proportion of patients with a care gap for a specific genetic variant (HBOC: BRCA1, BRCA2; LS: MLH1, MSH2, MSH6, PMS2, or EPCAM) that is resolved within 18 months of index date.

  18 months after index date

• Shared decision making

  Patient reports of shared decision making about their genetic risk using the Shared Decision-Making Questionnaire (SDM-Q-9) with total scores ranging from 0-45.

  12 months after index date

• Self-efficacy

  Patient reports of self-efficacy in managing cancer-related genetic risk using a modified version of the 12-item Communication and Attitudinal Self-Efficacy scale for cancer (CASE-cancer) with scores ranging from 12-48.

  12 months after index date

Secondary Outcomes (1)

• Resolved care gaps

  12 months after index date

Study Arms (2)

Usual Care

NO INTERVENTION

All patients and clinicians at UC clinics will continue to receive an existing EHR-linked clinical decision support for management of major uncontrolled cardiovascular risk factors and other selected chronic conditions. The existing CDS displayed at UC clinics does not include patient-specific information on recommended cancer prevention activities for those with HBOC or LS.

Patient Centered Clinical Decision Support for Hereditary Genetic Cancer Syndromes

OTHER

All patients and clinicians at PC-CDS clinics will continue to receive an existing EHR-linked clinical decision support for management of major uncontrolled cardiovascular risk factors and other selected chronic conditions plus patient-specific information on recommended cancer prevention activities for those with HBOC or LS.

Other: Patient Centered Clinical Decision Support (PC-CDS)

Interventions

Patient Centered Clinical Decision Support (PC-CDS) OTHER

The intervention provides patient specific recommendations on managing cancer risk due to hereditary cancer gene variants that is integrated into an existing point of care clinical decision support system that algorithmically identifies study-eligible patients and deploys patient-specific CDS output at an index visit and all subsequent primary care encounters using the most up to date available clinical information.

Also known as: Genetics Wizard

Patient Centered Clinical Decision Support for Hereditary Genetic Cancer Syndromes

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Aged 18 years or more at index clinical encounter,
• Existing genetic testing or problem list evidence of HBOC or LS,
• 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,
• 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

You may not qualify if:

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

Sponsors & Collaborators

• HealthPartners Institute: lead
• National Cancer Institute (NCI): collaborator

Study Sites (1)

HealthPartners Medical Group

Minneapolis, Minnesota, 55440, United States

Location

Related Publications (6)

• Newton K, Green K, Lalloo F, Evans DG, Hill J. Colonoscopy screening compliance and outcomes in patients with Lynch syndrome. Colorectal Dis. 2015 Jan;17(1):38-46. doi: 10.1111/codi.12778.

  PMID: 25213040 BACKGROUND

• Halbert CH, Lynch H, Lynch J, Main D, Kucharski S, Rustgi AK, Lerman C. Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations. Arch Intern Med. 2004 Sep 27;164(17):1881-7. doi: 10.1001/archinte.164.17.1881.

  PMID: 15451763 BACKGROUND

• Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Garber JE, Goggins M, Hutton ML, Khan S, Klein C, Kohlmann W, Kurian AW, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Norquist BS, Offit K, Pal T, Pederson HJ, Reiser G, Shannon KM, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Dwyer MA, Darlow SD. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. J Natl Compr Canc Netw. 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017.

  PMID: 32259785 BACKGROUND

• Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.

  PMID: 25192939 BACKGROUND

• Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.

  PMID: 30646163 BACKGROUND

• Schneider KI, Schmidtke J. Patient compliance based on genetic medicine: a literature review. J Community Genet. 2014 Jan;5(1):31-48. doi: 10.1007/s12687-013-0160-2. Epub 2013 Aug 10.

  PMID: 23934761 BACKGROUND

Related Links

• National Cancer Institute (n.d.), Evidence-Based Cancer Control Programs (EBCCP). Public Health Genomics Evidence-Based Programs Listing.
• National Cancer Institute. Cancer Stat Facts: Colorectal Cancer. Surveillance, Epidemiology and End Results Program
• Cancerwise

MeSH Terms

Conditions

Hereditary Breast and Ovarian Cancer Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis; Neoplastic Syndromes, Hereditary; Ovarian Neoplasms

Condition Hierarchy (Ancestors)

Breast Neoplasms; Neoplasms by Site; Neoplasms; Endocrine Gland Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases; Gonadal Disorders; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Patrick J. O'Connor, MD, MPH, MA

  HealthPartners Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 31, 2025
• First Posted: April 6, 2025
• Study Start: July 9, 2025
• Primary Completion (Estimated): June 30, 2028
• Study Completion (Estimated): March 31, 2029
• Last Updated: August 5, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL

Locations

US (1)