Hereditary Cancer Testing with CARE

According to studies, 93% of high-risk women who qualify for breast MRI have not had one.1 97% of women at risk for hereditary breast/ovarian cancer have not had genetic testing.2 These healthcare gaps mean high-risk patients are being missed when it comes to proactive and preventative care. As a practicing OB-GYN for twenty years, I have seen multiple reasons to include screening and offer genetic testing through wellness checks. Three easily identifiable factors to help narrow these gaps are time and resources, education and consent, and standardization of offering testing for each practice. 

In order to get a thorough background and best address patient health, a healthcare provider may have at least 12 topics to cover in a standard 15-minute appointment.3 Even if we are able to obtain a detailed patient history, industry guidelines are continuously being updated, so it can be challenging to coordinate patient care with the most current guidelines. However, 76% of respondents in an ACOG survey indicated they would have genetic testing if recommended.4

When it comes to my specialty as a gynecologist, most patients who come through my office are concerned about their risk for cancer, especially breast and gynecologic cancers. However, many women may only see their OB-GYN once a year for a wellness check. It falls on clinics like mine to take on the responsibility of collecting an adequate family history and offering hereditary cancer testing. 

The benefits of this proactive care are multifaceted:

1. Early detection is possible by empowering patients to undergo individualized cancer screenings recommended based on their specific cancer risk.

2. Patients have the ability to make informed decisions about risk-reducing surgical options to address cancer risk. 

3. Providers have the ability to tailor treatment recommendations based on genetic test results if a patient develops cancer.

4. Family members are also encouraged to identify their risks and access appropriate cancer screening.

We all agree that OB-GYNs are a logical source of hereditary cancer risk screening and genetic testing, but there are still challenges. 

Healthcare providers and clinics often have reservations about adding screening protocols to the workflow. It adds an additional component of clinical guidelines to maintain. Staff can feel overwhelmed with the extra workload, and providers are concerned about answering patient questions knowledgably. This is especially true when handling genetic test results, seeing variants of unknown significance (VUS), knowing what to do in the case of a false negative, and having resources for patients with extra concerns. 

The solution in my practice was to rely on technology. We found screening with paper forms cumbersome and challenging, requiring the patient to arrive early to fill out paperwork, and adding to staff workload. While change can be unnerving, we found that the Ambry CARE ProgramTM met our needs in a variety of ways. 

1. CARE works with our electronic health records (EHR) system. 

2. The CARE digital platform allows patients to fill out history ahead of time. 

3. CARE is updated with the latest guidelines to keep ahead of industry knowledge.

4. CARE offers a strong customer service team and many resources for the practice, clinicians, and patients.

5. CARE provides seamless connection to telehealth genetic counseling services. 

At Lake Health, CARE is a complete digital solution to support us in identifying and managing patients. 

In two years with the CARE Program, Lake Health sent 17,350+ patient assessments. Of those, 80% completed the questionnaire and risk assessments. From that group, about 17% of women were found to have a lifetime breast cancer risk greater than 20. 8-10% met genetic testing criteria. Statistically, that means over 2,300 women qualify for a clinical breast exam, not just once a year, but every six months, and over 2,300 women qualify for annual breast MRIs.

Out of the initial 2,300 women:

• About 13 women were advised to consider risk-reducing mastectomy. 

• At least 26 patients qualify for colonoscopies at greater frequency than previously. 

• About 20 patients were advised to consider risk reducing salpingo-oophorectomy (ovary and fallopian tube removal).

• Additional screening and management was recommended to address increased risk of other cancers such as pancreatic cancer or prostate cancer, etc.

Our offices’ patient response to the CARE Program is overwhelmingly positive. Many patients already felt anxious about their family history but didn’t know they had options for high-risk care. Patients are grateful to receive a personalized risk assessment and to know they have the potential for testing if they qualify. In addition, patients are relieved when they find they have an average risk assessment or negative genetic testing but also if they have positive genetic testing or a high risk-assessment when they are given options for increased screening/risk reduction. 

After many years of practice, I remain passionate about women’s health. I want to give the best possible care to my patients. The Ambry CARE Program helped our offices offer more comprehensive healthcare. In Part Two of this blog series, I will talk about two specific examples of how genetic testing affected patients. 

Watch the full webinar.




1. Miles R, Wan F, Onega TL, Lenderink-Carpenter A, O'Meara ES, Zhu W, Henderson LM, Haas JS, Hill DA, Tosteson ANA, Wernli KJ, Alford-Teaster J, Lee JM, Lehman CD, Lee CI. Underutilization of Supplemental Magnetic Resonance Imaging Screening Among Patients at High Breast Cancer Risk. J Womens Health (Larchmt). 2018 Jun;27(6):748-754. doi: 10.1089/jwh.2017.6623. Epub 2018 Jan 17. PMID: 29341851; PMCID: PMC6007803.
Hill, D. A., Haas, J. S., Wellman, R., Hubbard, R. A., Lee, C. I., Alford-Teaster, J., Wernli, K. J., Henderson, L. M., Stout, N. K., Tosteson, A. N., Kerlikowske, K., & Onega, T. (2017). Utilization of breast cancer screening with Magnetic Resonance Imaging in Community practice. Journal of General Internal Medicine, 33(3), 275–283. 
2. Hull LE, Haas SE, Simon SR. Provider discussions of genetic tests with U.S. women at risk for a BRCA mutation. Am J Prev Med. 2018;54(2):221–8.
3. The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population. PMID 28079901
Estimation of the Time Needed to Deliver the 2020 USPSTF Preventive Care Recommendations in Primary Care PMID: 33211585
ACOG Committee Opinion 755 PMID: 30247364
4. ACOG Committee Opinion 755 PMID: 30247364

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