Guest Column | September 9, 2022

Genetic Testing For Prostate Cancer Tackles The Black Demographic Disparity

By Brian T. Helfand, M.D., Ph.D., NorthShore University HealthSystem


Prostate cancer is one of the most common forms of cancer, the second leading cancer causing death among men, and studies show that inherited factors account for 57% of the risk for developing prostate cancer, higher than most other common cancers such as ovarian and breast. Although advances in genomic research have an opportunity to greatly improve the health and survival of all men, much of the focus of progress has been on people of European ancestry and has excluded Black men, who have a substantially higher incidence of prostate cancer and disease related death than the general population.

In addition to cultural perceptions, infrastructural barriers, and social issues impacting these disparities, an under-discussed area of concern is that the development of comprehensive clinical-grade blood or saliva genetic tests has largely focused on Caucasian men. These realities make it harder for Black males to benefit from genomic advances and research that can improve their health.

Testing is a crucial part of improving prostate cancer outcomes, as it informs patient treatment plans and the potential for more targeted prostate cancer therapies. Without access to clinical-grade testing, individuals lack data and information about potential inherited risk, predicted prognosis, and treatment options.

As an industry, we must invest in efforts to better understand barriers impacting adoption of genomic innovations among Black men. We must look for opportunities for communities to overcome financial and logistical barriers to patients as well as perceptions impacting interest in the field.

We must ensure our offerings benefit our diverse communities. Specifically, we must prioritize making available genomic innovations that can predict risk for unaffected men, predict prognosis for localized prostate cancer patients, and predict therapeutic responses for advanced/metastatic prostate cancer patients.

Our approaches should combine three methods for testing: family history, rare pathogenic mutations, and genetic risk score, through a simple saliva or blood test to equip physicians and patients to determine the most informative and comprehensive care plan for their patients.

A Case Example At NorthShore University HealthSystem

We consider our genomics program (in partnership with GoPath Laboratories) to be one successful example of a genomics program that is specifically targeting high prevalence and death rates for prostate cancer among Black men. Using a large population-based cohort of more than 200,000 men in the U.K. Biobank, NorthShore’s research team found that men who reported a family history of prostate cancer and/or who carried a rare pathogenic gene mutation or had a high genetic risk score were at a significantly increased risk for developing prostate cancer and dying from the disease. This is the first time that the predictive abilities of each component of a genetic assessment were able to be studied in a large cohort prospectively. In addition, the research team expanded their findings into diverse racial populations including Black men and validated common findings among men of all ancestries and highlighted unique genetic mutations and variations among Black populations.

NorthShore’s findings are a concrete example of the usefulness of these tests for personalized medicine. They also highlight how new technology detects mutations and provide insight into who can benefit from which types of prostate cancer screenings. The program is part of a larger investment to expand the impact of genomics and advanced health intelligence among diverse populations to address disparities in personalized health caused by hindered awareness and access.

For example, due to NorthShore’s intentional focus on increasing access to advanced clinical programs, the system recently began proactively engaging culturally diverse communities at a State of Illinois safety net hospital located in a federally designated Medically Underserved Area. Through a gift from the Swedish Hospital Foundation, the program offers subsidized genetic testing for patients who do not have the financial resources to pay for testing and research to understand and address barriers to access.

Because health disparities are impacted by many factors, successful interventions are holistic and clearly linked to a culture of inclusion in which every area of the system is committed to contributing to addressing them.

At NorthShore, diversity and inclusion efforts that shape the internal culture are having a clear impact on clinical innovations and delivery. Large data sets of multi-racial populations reflect unique mutations in Black men that may contribute to increased prevalence of prostate cancer. In addition to prostate cancer, NorthShore is exploring how genetic risk scores relate to cancer care for other tumor types as well as other medical conditions, including diabetes and cardiovascular disease.

Genomics research is shaping the future of prostate cancer and medicine at large. A genomic panel that was once cost prohibitive is now accessible at $250 or less. To improve health equity and benefit society, it is important that the diversity of patients taking advantage of clinical genomics is reflected in our clinical strategies. Non-invasive and affordable tests can help motivate men of all races to gain insights that can positively impact their health journey.

Addressing Disparities In Clinical Trials

The challenge of addressing health disparities in clinical innovations is not limited to prostate cancer.

The dynamic and complex interactions between biological factors, the environment, health behaviors, sociocultural factors, and the way healthcare systems interact all contribute to health disparities in research. As an industry, we must prioritize protocols and interventions that promote the inclusion of diverse populations with a systematic applied approach. To understand the complexities of why a racial or ethnic minority group has a worse health outcome compared to a reference group, we must intentionally recruit more diverse participants in research.

The National Institutes of Health Minority Health and Health Disparities Strategic Plan 2021-2025 has outlined ideas for the industry to consider in order to engage diverse populations and encourage them to participate in clinical trials. Among these are the dissemination of culturally appropriate educational materials and evidence-based interventions to communities to increase participation in clinical trials by members of populations experiencing health disparities.

By meeting diverse populations where they are with materials that resonate with them, we can build trust within the community that will foster increased participation. Additionally, designing and conducting educational interventions to engage underserved communities and encourage participation in health disparity research could be another opportunity to drive participation. Above all, trust must be built among underserved communities and the industry to encourage participation in clinical trials. By disseminating culturally appropriate educational materials and conducting informative community interventions with respected community leaders, trust can be formed that will promote participation in clinical trials.

About The Author:

Brian Helfand, M.D., Ph.D., is the chief of the Division of Urology and the Ronald L. Chez Family and Richard Melman Family Endowed Chair at NorthShore University HealthSystem. He is director of the personalized prostate program and director of clinical research in the Program for Personalized Cancer Care (PPCC). An active surgical scientist, he is involved in the care of patients with prostate cancer. His clinical care and research are focused on the implementation of genetic tests and biomarker studies for prostate cancer. Recognized as a Top Doctor by Castle Connolly Magazine, Helfand has been the recipient of the Chicago Magazine Top Doctor Award (2021), Patients’ Choice Award (2020, 2018, 2017, 2016), On-Time Doctor Award (2020, 2018, 2017, 2016, 2015), Compassionate Doctor Recognition (2020, 2018, 2017, 2016, 2015), and Compassionate Doctor Award – 5 Year Honoree (2020). You can find him on LinkedIn.