Closing the Gaps: Scaling Hereditary Cancer Risk Identification Across the Health System 

The ability to identify patients at increased risk for hereditary cancer has never been more achievable, yet it’s still far from routine. National guidelines and accreditation programs call for proactive risk assessment and genetic testing. Still, many patients who meet criteria are never identified or offered next steps. Gaps in implementation persist, but some health systems are beginning to close them with meaningful results.

Rising Expectations Across the Care Continuum 

Clinical guidelines from leading professional organizations increasingly advocate for early and systematic identification of patients at risk for hereditary cancer. Taken together, these recommendations stretch across specialties—from primary care and OB/GYN to gastroenterology and oncology—and reflect what high-quality proactive care now requires. 

The table below outlines key recommendations from leading organizations that define best practices for hereditary cancer risk assessment. 

Organization	Specialty	Guideline Summary
Commission on Cancer (CoC)¹	Multi-specialty	Requires accredited cancer programs to use evidence-based guidelines for genetic risk assessment, testing, and management of patients at increased hereditary cancer risk.
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®)² ³	Multi-specialty	Provide criteria for hereditary cancer risk assessment and testing across breast, ovarian, pancreatic, prostate, colorectal, endometrial, and gastric cancers.
USPSTF (2019)⁴	Primary Care	Recommends risk assessment for women with BRCA-related personal or family history and appropriate follow-up counseling and testing.
ACOG (2020)⁵	OB/GYN	Advises routine hereditary cancer risk assessment and referral to genetic counseling as needed.
AGA (2023)⁶	Gastroenterology	Emphasizes that colorectal cancer risk stratification should include family history and known or suspected hereditary cancer syndromes.
ASCO (2024)⁷	Oncology	Recommends that all cancer patients have a comprehensive family history taken to guide risk assessment and possible genetic testing.

Persistent Gaps in Risk Identification 

Guidelines may be clear, but real-world implementation is still inconsistent. The following are just a few examples that highlight how easily high-risk patients can be missed: 

• About 1 in 20 people have a genetic mutation that increases their risk for cancer—yet most don’t know it.⁸ 
• Males undergo hereditary cancer testing at lower rates than females—half the rate when they do not have cancer, and even lower when males and females with cancer are compared.⁹ 
• Patients from underrepresented groups are less likely to be offered genetic testing or undergo genetic counseling.^10,11 

As Dr. Dax Kurbegov noted on a recent Becker’s podcast: “When we ask these [medical and family history] questions, there’s the presumption that something is going to be done with the information. And that’s not always the case.”¹² 

Health Systems Closing the Gaps 

Health systems like TriHealth and HCA Healthcare are proving that large-scale change is possible with the right tools in place. The Ambry CARE Program® (CARE) helps clinical teams collect structured personal and family history, assess hereditary cancer risk using validated models, and supports genetic testing and patient education — all within a digital workflow. 

TriHealth, a community hospital in Cincinnati, Ohio, implemented CARE across OB/GYN clinics and integrated breast cancer risk scores into the EHR. Over a two-year period, they saw: 

• A 635% increase in referrals to genetic counseling 
• An 870% increase in referrals to the high-risk breast clinic 
• A 1,000%+ increase in identification of Black patients who met criteria for genetic counseling or high-risk management^13,14 

Sarah Cannon, the Cancer Institute of HCA Healthcare, deployed CARE across its nationwide network. In a 14-month evaluation period, they found: 

• Roughly 1 in 3 patients qualified for hereditary cancer testing or breast MRI 
• 8% had a change in clinical management as a result¹⁵ 

One of those HCA patients tested was Christina, who was found to have a mutation in the BRCA2 gene. “I’m grateful for the extra years I may be able to spend with my children and, hopefully someday, grandchildren,” she said, “because of the proactive healthcare choices I’ve been able to make.” ¹⁶ 

From Awareness to Action 

The path forward isn’t about reinventing care. It’s about strengthening what clinicians already do with the right tools and processes — and extending that impact to every patient who could benefit. Leading systems like TriHealth and HCA Healthcare have shown that equipping care teams across specialties with the right infrastructure can transform high-risk patient identification. 

 Explore CARE to see how your organization can close gaps and empower more patients with access to personalized, proactive care. 

1. Commission on Cancer. Optimal Resources for Cancer Care (2020 Standards). Chicago, IL: American College of Surgeons; 2020. Standard 4.4: Genetic Risk Assessment and Testing. Accessed August 8, 2025. https://www.facs.org/quality-programs/cancer/coc/standards/2020  
2. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate. V1.2026. ©National Comprehensive Cancer Network, Inc. 2025. All rights reserved. Accessed August 7, 2025. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.  
3. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric. V1.2025. ©National Comprehensive Cancer Network, Inc. 2025. All rights reserved. Accessed August 7, 2025. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.  
4. Owens DK, Davidson KW, Krist AH, et al. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;322(7):652–665. https://doi.org/10.1001/jama.2019.10987 
5. ACOG Committee Opinion No. 793. Hereditary Cancer Syndromes and Risk Assessment. Obstet Gynecol. 2020;134(6):e143–e149. https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2019/12/hereditary-cancer-syndromes-and-risk-assessment 
6. Issaka RB, Chan AT, Gupta S, et al. AGA Clinical Practice Update: Risk Stratification for Colorectal Cancer Screening and Post-Polypectomy Surveillance. Gastroenterology. 2023;165(1):1280–1291. https://pubmed.ncbi.nlm.nih.gov/37737817/ 
7. Tung N, Ricker C, Messersmith H, et al. Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline. J Clin Oncol. 2024;42(21):2599–2615. https://pubmed.ncbi.nlm.nih.gov/38759122/ 
8. Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW. Cascade genetic testing of relatives for hereditary cancer risk: Results of an online initiative. JNCI: Journal of the National Cancer Institute. 2019;111(1):95–98. doi:10.1093/jnci/djy147. 
   https://doi.org/10.1093/jnci/djy147 
9. Childers KK, Maggard-Gibbons M, Macinko J, Childers CP. National distribution of cancer genetic testing in the United States: Evidence for a gender disparity in hereditary breast and ovarian cancer. JAMA Oncol. 2018;4(6):876–879. doi:10.1001/jamaoncol.2018.0340. 
   https://doi.org/10.1001/jamaoncol.2018.0340 
10. Kurian, A. W., Abrahamse, P., Furgal, A., Ward, K. C., Hamilton, A. S., Hodan, R., Tocco, R., Liu, L., Berek, J. S., Hoang, L., Yussuf, A., Susswein, L., Esplin, E. D., Slavin, T. P., Gomez, S. L., Hofer, T. P., & Katz, S. J. (2023). Germline Genetic Testing After Cancer Diagnosis. JAMA, 330(1), 43–51. https://doi.org/10.1001/jama.2023.9526 
11. Southwick, S. V., Esch, R., Gasser, R., Cragun, D., Redlinger-Grosse, K., Marsalis, S., & Zierhut, H. A. (2020). Racial and ethnic differences in genetic counseling experiences and outcomes in the United States: A systematic review. Journal of genetic counseling, 29(2), 147–165. https://doi.org/10.1002/jgc4.1230 
12. Kurbegov D. Scaling preventative cancer care with data, technology and human touch. Becker’s Healthcare Podcast. May 2024. 
    https://www.beckershospitalreview.com/podcasts/uncategorized/scaling-preventative-cancer-care-with-data-technology-and-human-touch 
13. Menke C, Rice C. Improved patient identification in Black population for genetic counseling services with an EMR-integrated cancer risk assessment tool. NSGC Annual Conference; 2023. Chicago, IL. 
14. Menke C, Rice C. Use of a patient-facing digital platform to aid in genetic test result delivery and connection to genetic counseling services. NSGC Annual Conference; 2023. Chicago, IL. 
15. Fecteau H, Foulkes WD, McGuire L, et al. A scalable approach to democratizing cancer risk stratification: One healthcare system’s approach using a patient-facing digital platform. J Clin Oncol. 2023;41(16_suppl):10622–10622. doi:10.1200/JCO.2023.41.16_suppl.10622. 
16. Personalized Care in Action: The Unexpected Discovery That Validated Our HighRisk Program. Ambry blog post by Lisa McGuire; June 4, 2025. Available at: Ambry Genetics Blog.