Casting a Wide Net While Building a Safety Net: Addressing Disparities in Genetic Testing for Hereditary Cancer

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Julie Mak
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As we approach 30 years since the identification of the BRCA1 and BRCA2 genes, we can reflect on the progress made, including targeted treatments and an increasing number of individuals who are tested presymptomatically. At the same time, we remain far from realizing the full potential of genetic testing for cancer predisposition, with testing rates falling stubbornly short of goals. The introduction of multigene panels and an ever-expanding population for whom testing is indicated mean that the target keeps moving further ahead.

In this issue of JNCCN, Lau-Min et al1 report on recent trends and determinants of genetic testing since FDA approval of PARP inhibitors for patients with breast and ovarian cancers. This study is notable for its nationwide scope and use of primary source data from electronic health records. The investigators document a significant increase in germline BRCA1/2 genetic testing for individuals diagnosed with breast and ovarian cancers from 2011 to 2020. Nonetheless, among a study population in which all women met the criteria for genetic testing, overall rates of testing were disappointing at 56.4% for eligible patients with breast cancer and 35.4% for those with ovarian cancer.

The shortfall in genetic testing is of critical importance because it translates into lost opportunities for appropriwate treatment, early detection, and prevention of future cancers for patients and their relatives. Similarly, disparities in genetic testing lead to differences in access to personalized care and clinical trials, which in turn means the same disparities are perpetuated in the development of novel treatments.

What do we know about disparities in genetic testing? Among the factors associated with a lower rate of genetic testing are Medicare and/or Medicaid insurance,13 older age,1,35 and Spanish-speaking versus English-speaking.2 When examining disparities based on race or ethnicity, Lau-Min et al found that Black race was associated with a lower rate of genetic testing compared with White race, a gap that has been previously reported.2,4,6 In other studies, Asian ancestry has also found to be associated with lower rates of genetic testing,4,5 and Latinas were more likely to report that they received too much information about testing.3

For patients who undergo genetic testing, individuals of non-European ancestry have higher rates of variants of uncertain significance (VUS). Focusing on 11 guidelines-based genes, Kurian et al6 found VUS rates for Black and Asian patients were almost twice as high as non-Hispanic White patients. Although most variants classified as uncertain turn out to be benign, these results can create confusion for patients and providers. Furthermore, a portion of these variants are pathogenic, meaning that the genetic tests may be missing more mutations in non-White populations.

Importantly, reported racial disparities extend beyond testing, also affecting BRCA-related care. Cragun et al2 found that among women with a BRCA1 or BRCA2 pathogenic variant, rates of risk-reducing mastectomy and risk-reducing salpingo-oophorectomy were significantly lower among Black women.

The challenge of improving overall access to genetic information and reducing disparities can be approached from 2 directions. The first is to “cast a wide net” by broadening our reach and simplifying access to genetic testing. The second is to “build a safety net” of more in-depth, personalized, and culturally sensitive care for those who need it.

It is becoming increasingly appropriate to offer screening for family history of cancer and, in some settings, genetic testing to everyone coming into a particular medical space, such as mammography, primary care, or cancer clinics. At these entry points, we want to make it easy for appropriate candidates to obtain testing. Outreach and educational materials should be offered in multiple languages and at an accessible reading level. Ideally, genetic counselors or other professionals experienced in cancer genetics are involved in choosing tests, developing materials, and providing support. With these supports in place, we can consider offering initial pretest education by a variety of means, including screening forms and algorithms, educational flyers and videos, and other technological tools. For example, Katz et al3 reported that patients were equally satisfied with pretest education whether it was provided by a genetic counselor or another provider.

An example of this strategy at our institution is the “genetic testing station,” which offers expedited testing for patients with cancer. Testing is ordered by a referring physician, and pretest education consists of short videos and documents designed by genetic counselors, available in multiple languages. Genetic counseling assistants, trained and supported by our counselors, facilitate the process. Patients can elect to see a genetic counselor or may be referred for counseling based on their responses to screening questions. Genetic counselors review test results and provide counseling for those with positive or complex results. In all areas where this model has been implemented, increases in testing rates and decreases in time to testing have been observed.7,8

However, as in so many other areas of healthcare, technology and automation are only part of the answer. Data from the genetic testing station demonstrated that racial disparities in test completion persisted in this model.7,8 These findings led to the other important component of increasing equitable access: a support system for patients identified as appropriate candidates for testing but who do not complete a routinized process.

The goal is not to convince every person to pursue testing, but to empower each patient to make an informed choice about receiving genetic information. Fortunately, there is a significant body of literature to provide guidance for working with patients unfamiliar with or hesitant about genetic testing. Joseph et al9 interviewed patients at a public hospital and found that the study population was focused on the “why” of testing—learning if they will develop cancer and what steps they can take to prevent it—and less on the “how” or technical information about a test.

It is also important to address common patient misconceptions. Many patients incorrectly assume that testing is expensive and not covered by insurance; providers may find it helpful to explain the protections provided by the Genetic Information Nondiscrimination Act (GINA) and other laws. Some patients believe that genetic testing is solely for family members or for research, and therefore the connection between test results and cancer treatment or prevention should be emphasized. Lau-Min et al1 reported an acceleration in the rate of testing for patients with ovarian cancer after the approval of PARP inhibitors, suggesting that the relevance to treatment is a motivating factor for providers and/or patients.

Glenn et al10 interviewed women from diverse backgrounds regarding their perceptions of genetic testing and found some distinct themes. They reported that misuse of genetic information was a concern among African American women; fear of learning negative information about the future was expressed by patients from a range of Asian ancestries; and Latina women expressed hesitation to pursue their own medical needs because they prioritized caring for their families. Although this information should not be used to make assumptions about individual beliefs based on race, ethnicity, or culture, it increases our awareness of potential barriers to testing and allows us to open meaningful conversations with patients.

A story that has stayed with me over the years helps illustrate many of the tools we can use to support patients. One of our gynecologic oncologists reached out to me about a patient with a personal and family history suggestive of inherited cancer risk. This patient had a prior genetic counseling visit but did not proceed with testing. While the patient was at a follow-up appointment, her doctor asked me to join the conversation. After we had spoken for some time, the patient, who was of Chinese ancestry, said, “Julie, you’re Chinese. Do Chinese people really do this test?” She shared her fear of learning there was a genetic susceptibility to cancer in her family and the shadow that might cast over her adult children’s future. By creating an environment where she felt safe voicing this concern, our conversation could become more personalized. I emphasized our shared goal of protecting her family. I also encouraged her to speak to her children, who were raised in the United States, about their perceptions of testing. At the end of that second genetic counseling encounter, she still did not feel ready to proceed with testing. Months later, when this patient was at another follow-up visit with her oncologist, I was again invited to join. After this third conversation, the patient felt ready to pursue testing. For me, this was a learning experience that illustrated the importance of working with a patient’s trusted partners, like this oncologist; involving providers that patients perceive to be part of their community; listening with an open mind to build trust; and patience!

As we move forward, broadening our reach and simplifying access will be critical components of improving rates of genetic testing and reducing disparities. Equally, there remain times when cultural awareness and deep partnerships with patient communities will be the keys to reaching as many people as possible with this life-saving information.

References

  • 1.

    Lau-Min K, McCarthy AM, Nathanson K, Domchek SM. Nationwide trends and determinants of germline BRCA1/2 testing in patients with breast and ovarian cancer. J Natl Compr Canc Netw 2023;21(4):351358.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 2.

    Cragun D, Weidner A, Lewis C, et al. Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors. Cancer 2017;123:24972505.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 3.

    Katz SJ, Ward KC, Hamilton AS, et al. Gaps in receipt of clinically indicated genetic counseling after diagnosis of breast cancer. J Clin Oncol 2018;36:12181224.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 4.

    Kurian AW, Griffith KA, Hamilton AS, et al. Genetic testing and counseling among patients with newly diagnosed breast cancer. JAMA 2017;317:531534.

  • 5.

    Powell CB, Laurent C, Garcia C, et al. Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system. Clin Genet 2022;101:324334.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 6.

    Kurian AW, Ward KC, Howlader N, et al. Genetic testing and results in a population based cohort of breast cancer patients and ovarian cancer patients. J Clin Oncol 2019;37:13051315.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 7.

    Walker EJ, Goldberg D, Gordon KM, et al. Implementation of an embedded in-clinic genetic testing station to optimize germline testing for patients with pancreatic adenocarcinoma. Oncologist 2021;26:e19821991.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 8.

    Kwon DH, Gordon KM, Tong B, et al. Implementation of a telehealth genetic testing station to deliver germline testing for men with prostate cancer (published online January 12, 2023). JCO Oncol Pract. doi:10.1200/OP.22.00638

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 9.

    Joseph G, Pasick RJ, Schillinger D, et al. Information mismatch: cancer risk counseling with diverse underserved patients. J Genet Couns 2017;26:10901104.

  • 10.

    Glenn B, Chawla N, Bastani R. Barriers to genetic testing for breast cancer risk among ethnic minority women: an exploratory study. Ethnicity Dis 2012;22:267273.

    • PubMed
    • Search Google Scholar
    • Export Citation

JULIE MAK, MS, MSc, CGC

Julie Mak, MS, MSc, CGC, is a Genetic Counselor Supervisor in the Cancer Genetics and Prevention Program at the University of California San Francisco, where she has worked since 2002. Her clinical effort is in the Hereditary Cancer Clinic, a multispecialty team focused on the care of individuals with inherited risk for breast, ovarian, and other cancers. She is a member of the NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Panel.

Disclosures: The author has disclosed not having any financial interests, arrangements, affiliations, or commercial interests with the manufacturers of any products discussed in this article or their competitors.

Correspondence: Julie S. Mak, MS, MSc, CGC, University of California San Francisco, Helen Diller Family Comprehensive Cancer Center, 1825 4th Street, 6th Floor, San Francisco, CA 94158. Email: Julie.mak@ucsf.edu

View associated content

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  • 1.

    Lau-Min K, McCarthy AM, Nathanson K, Domchek SM. Nationwide trends and determinants of germline BRCA1/2 testing in patients with breast and ovarian cancer. J Natl Compr Canc Netw 2023;21(4):351358.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 2.

    Cragun D, Weidner A, Lewis C, et al. Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors. Cancer 2017;123:24972505.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 3.

    Katz SJ, Ward KC, Hamilton AS, et al. Gaps in receipt of clinically indicated genetic counseling after diagnosis of breast cancer. J Clin Oncol 2018;36:12181224.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 4.

    Kurian AW, Griffith KA, Hamilton AS, et al. Genetic testing and counseling among patients with newly diagnosed breast cancer. JAMA 2017;317:531534.

  • 5.

    Powell CB, Laurent C, Garcia C, et al. Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system. Clin Genet 2022;101:324334.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 6.

    Kurian AW, Ward KC, Howlader N, et al. Genetic testing and results in a population based cohort of breast cancer patients and ovarian cancer patients. J Clin Oncol 2019;37:13051315.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 7.

    Walker EJ, Goldberg D, Gordon KM, et al. Implementation of an embedded in-clinic genetic testing station to optimize germline testing for patients with pancreatic adenocarcinoma. Oncologist 2021;26:e19821991.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 8.

    Kwon DH, Gordon KM, Tong B, et al. Implementation of a telehealth genetic testing station to deliver germline testing for men with prostate cancer (published online January 12, 2023). JCO Oncol Pract. doi:10.1200/OP.22.00638

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 9.

    Joseph G, Pasick RJ, Schillinger D, et al. Information mismatch: cancer risk counseling with diverse underserved patients. J Genet Couns 2017;26:10901104.

  • 10.

    Glenn B, Chawla N, Bastani R. Barriers to genetic testing for breast cancer risk among ethnic minority women: an exploratory study. Ethnicity Dis 2012;22:267273.

    • PubMed
    • Search Google Scholar
    • Export Citation
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