This is Part 2 of my blog regarding lessons that the genetics field can learn from the COVID-19 pandemic.  Please visit Part 1 if you have not already!

 As discussed, the recent problems with access to care, lack of transparency and mistrust of medical professionals did not first appear in 2020. The COVID-19 pandemic just laid them bare for all to see. As the summer temperature and vaccine rates go up, the country is opening up again. While friends and family send out invitations to gatherings, social media buzzes with memes about not trusting those who have displayed differing views on social distancing and vaccines for a full year. The public’s memory is long and it is clear: if trust is a two-way street, it is filled with potholes.

Memory is a powerful thing. In medicine, the memory of well-intentioned studies that produced incredible harm is often cited as the reason minorities do not participate in research studies.¹ Likewise, remembering the efforts to remove unwanted traits by choosing who could have children (the early history of eugenics) still influences how many think of modern genetics.² Thus, the historical issues of trust in genetics, coupled with the spread of general mistrust of all medical providers during the 2020 pandemic is cause for concern. As highlighted in the last article, mistrust of the medical field during the COVID-19 crisis flourished in part due to a confusing testing process, a shortage of testing kits, and lack of transparency when presenting public policy guidelines. Because these same issues are present in the practice of genetic testing in the United States, we can and should address them immediately as we seek to provide equitable care.

The Testing Process

Differences in who qualified for COVID-19 diagnostic testing created suspicion of the healthcare community. The unevenness of who is offered genetic services has the same effect. Providers who offer prenatal genetic testing have long questioned ordering carrier screening based on race, which is socially constructed and not biological.³ After calls across the country to increase JEDI (justice, equity, diversity and inclusion) efforts, oncology genetics providers challenged the racial disparity of using polygenic risk scores (PRS) to calculate a woman’s breast cancer risk due to the lack of diversity in reference genomics databases, with one laboratory discontinuing the tool altogether.⁴

In order to resolve the imbalance of who receives genetic services, we must first quantify who we serve and how we measure the quality of care received. Data from patient intake forms is generally stored and revisited when the need for new office staff or pay increases need to be justified.  For instance, a clinical genetics provider can better advocate for the need to hire an assistant if the volume of patients has steadily increased over time. Impressively, it is not uncommon for providers to track the downstream revenue of their services to support salary requests.¹¹ This same capability used to track clinic metrics to support professional advancements should be employed to analyze the demographics of the patients seen. By surveying existing patient data with the intention of identifying gaps in care, clinicians can observe if there are trends in the populations that are either not being referred, or not undergoing genetic testing. Further, providers should be aware of the population demographics of the broader communities their institutions serve, to set more specific goals in terms of how to increase the quality of care for those who need it most. Far too often, the lack of diversity among patients is blamed on how institutions or insurers bill for services.¹² While insurance barriers cannot be discounted, there are problems in dismissing diversity in patient populations without consideration of who exactly is included in the community. Once the identity of the community is defined, discourse on solutions can be more focused. Why is this entire zip code missing from our clinic? Why is genetic testing offered more frequently to English speaking patients?  This population makes up a majority of our “No-Show” rate in the mornings. Can we expand clinic time slots to serve this particular group better? Collecting patient demographics for professional analysis is common practice. Routinely analyzing this data, with insight into the local population demographics, is a logical next step in improving the provision of genetic services to address the disparities in the appointment and testing process.

Beyond evaluating patient populations, genetics providers should standardize when genetic testing is recommended. Although there are a number of professional guidelines to choose from, a clinician’s personal judgement to defer genetic testing when it may otherwise be offered has resulted in racial disparities.⁵ The remedy to standardizing genetic testing can be as simple as de-identifying pedigrees or patient summaries when presenting in case conferences or weekly meetings to determine if genetic testing is warranted. Otherwise, biased requests for more information are unknowingly introduced, leading to barriers in the genetic testing process. To take it a step further, we should also evaluate and discuss when referring providers are not sending all potential patients for a genetics evaluation. As genetic counselors often do, we can assess rapport with the referring providers and determine how to broach the subject appropriately. This is what patient advocacy looks like. It is resolute, sometimes uncomfortable, but always necessary to truly decrease disparities in care.

 Availability of Resources

At the height of the 2020 pandemic, unavailability of COVID-19 testing kits caused several to conduct their own internet research, which led to widespread misinformation that persists to this day. Likewise, access to genetic testing is still limited. Fixing the issue of genetic resources is already a focus of the NSGC’s (National Society of Genetic Counselors) Strategic Plan to provide quality service.⁶ One way to boost this goal would be to focus Genetic Counselor Awareness Day campaigns on reaching underrepresented patient populations. Current efforts flood social media with hashtags, pictures and happy hours that generally reach people who are... already aware. Instead, partnering with schools, nonprofit health equity organizations, community groups and places of worship that amplify underrepresented voices could improve the reach and impact of awareness plans.

The term justice in the JEDI acronym refers to addressing conflict by involving the groups most affected by decisions in the solutions.⁷ During the 2020 pandemic, telehealth became a priority for all medical appointments. The demand for more flexible appointment models by those most marginalized is not new, but now there is proof that phone and video appointments are not only a way to increase availability of resources, but also can be profitable to healthcare institutions.⁸ Additionally, “white coat fear”, or the intimidating feel of medical offices and how they impact patient rapport has been well-documented.⁹ Allowing those who desire genetic testing, especially those who do not frequent or historically trust health providers, to do so from a place of comfort at home can foster better rapport and openness between patients and health providers.

Transparency and the Explanation of Changing Health Guidelines

The struggle to provide clear COVID-19 messaging should serve as a testament that when discussing new medical ideas, less is more. While genetic counselors are trained to tailor the delivery of complicated information, medical jargon still hampers meaningful dialogue. The solution here is simple: use basic and clear language.  Like, a lot more of it. We simplify language in appointments and even use drawings and educational videos, however the clinical documentation and family letters are still not easy for a lay person to read. In other cases, it is the sheer amount of information presented at one time that dilutes important concepts. In the study that was presented in the previous blog¹⁰, genetic counselors worried that using simplified language with low literacy patients led to inaccurate information. We must realize that our efforts to widen the patient population are in vain if we only speak language that alienates them. Efforts to simplify our messaging should also involve those we aim to reach. It is quite common for graduate students to practice a counseling session with a non-genetics friend or family member to get feedback on the delivery of their genetics explanations. Why not keep the practice going as professionals? Beyond editing our material with fellow professionals or even hired wordsmiths, many could benefit by directly contacting low-literacy or underrepresented populations to get feedback on the effectiveness of our teachings.

There are still many obstacles to providing equitable genetics care, and medical mistrust is at the top of the list. While we may already employ some of the solutions above, we need to do so more boldly, frequently, and with determination. There is a problem in how we choose who to serve. There is a reason why our patient populations, both research and clinical, have looked the same for decades. This is in part due to a lack of diversity throughout the profession. This lack of diversity and inclusion permeates through to our messaging and service models, leaving a great portion of our communities unserved. The medical community’s messaging errors during the COVID-19 pandemic are the most current widespread example to the genetics world that medical mistrust causes real harm. Since publication of Part 1 of this blog, even the framing of medical mistrust has been called into question.¹³  We can reframe the issue of “people who do not trust medicine,” to “the medical field has not been trustworthy”. Honestly? That seems more accurate. We must admit that we can do more, and indeed it is our duty to increase healthcare equity. The onus to remedy mistrust is not on the patient. It is on us who are healthcare providers.

References:

1. Scharff, D. P., Mathews, K. J., Jackson, P., Hoffsuemmer, J., Martin, E., & Edwards, D. (2010). More than Tuskegee: understanding mistrust about research participation. Journal of health care for the poor and underserved, 21(3), 879–897. https://doi.org/10.1353/hpu.0.0323.

2. Rivard, L. (2014, September 18). America’s Hidden History: The Eugenics Movement. Nature News. https://www.nature.com/scitable/forums/genetics-generation/america-s-hidden-history-the-eugenics-movement-123919444/.

3. Peyser, A., Singer, T., Mullin, C. et al. Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates. Genet Med 21, 1400–1406 (2019). https://doi.org/10.1038/s41436-018-0331-y.

4. Ambry Genetics A Konica Minolta Company. (2021, April 26). Important Discontinuation Notice: AmbryScore (Polygenic Risk Scores).

5. Williams CD, Bullard AJ, O'Leary M, Thomas R, Redding TS 4th, Goldstein K. Racial/Ethnic Disparities in BRCA Counseling and Testing: a Narrative Review. J Racial Ethn Health Disparities. 2019 Jun;6(3):570-583. doi: 10.1007/s40615-018-00556-7. Epub 2019 Apr 8. PMID: 30963508.

6. Carey, M. (2018). National Society of Genetic Counselors Strategic Plan 2019- 2021 (p. 19, Issue brief No. September 2018). Chicago, IL: National Society of Genetic Counselors. doi:https://www.nsgc.org/Portals/0/Docs/NSGC%202019-2021%20Strategic%20Plan%20APPROVED%209-20-18.pdf.

7. Talusan, L. (2021, June). Action Planning for Cultural Change in Genetic Counseling. TSGC Virtual Annual Education Conference 2021. Texas; Texas.

8. Zielinski, L. (2020, May 14). How to plan for and profitably operate telehealth services. Healthcare Financial Management Association . https://www.hfma.org/topics/financial-sustainability/article/how-to-plan-for-and-profitably-operate-telehealth-services--.html.

9. Pioli, M. R., Ritter, A. M., de Faria, A. P., & Modolo, R. (2018). White coat syndrome and its variations: differences and clinical impact. Integrated blood pressure control, 11, 73–79. https://doi.org/10.2147/IBPC.S152761.

10. Galen Joseph, Robin Lee, Rena J. Pasick, Claudia Guerra, Dean Schillinger, Sara Rubin, Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication, European Journal of Medical Genetics, Volume 62, Issue 5, 2019, Pages 357-367, ISSN 1769-7212, https://doi.org/10.1016/j.ejmg.2018.12.004.

11. Mauer CB, Reys BD, Hall RE, Campbell CL, Pirzadeh-Miller SM. Downstream Revenue Generated by a Cancer Genetic Counselor. JCO Oncol Pract. 2021 Feb 8:OP2000464. doi: 10.1200/OP.20.00464. Epub ahead of print. PMID: 33555913.

12. Sohn H. (2017). Racial and Ethnic Disparities in Health Insurance Coverage: Dynamics of Gaining and Losing Coverage over the Life-Course. Population research and policy review, 36(2), 181–201. https://doi.org/10.1007/s11113-016-9416-y.

13. Jaiswal, J., & Halkitis, P. N. (2019). Towards a More Inclusive and Dynamic Understanding of Medical Mistrust Informed by Science. Behavioral medicine (Washington, D.C.), 45(2), 79–85. https://doi.org/10.1080/08964289.2019.1619511.

Carla McGruder, MS, CGC

Carla McGruder is a Senior Clinical Genetic Counselor at Color Health, where she provides leadership on the All of Us Research Program. Carla also provides genetic services in non-traditional ways through Good Genes Genetic Counseling Services, LLC. She received her M.S. in Genetic Counseling from the University of Texas-Houston Health Science Center Graduate School of Biomedical Sciences. Carla serves as a mentor and networking beast with the Minority Genetics Professionals Network. She is a dedicated member of the Texas Society of Genetic Counselors and has served on the executive board since 2016. She also serves on various appointed committees with the National Society of Genetic Counselors