By the PMAM Planning Committee
As we mark Precision Medicine Awareness Month (PMAM) this #KNOWvember, it's crucial to highlight the essential need for equity, diversity, and inclusion (EDI) in the rapidly advancing field of precision medicine:
- Equity: Ensures fair access to genomic testing and treatment options for all populations, addressing systemic barriers that may lead to health disparities.
- Diversity: Recognizes and values the genetic differences among populations to improve the effectiveness of precision medicine approaches.
- Inclusion: Involves actively engaging diverse populations in clinical trials and research to gather comprehensive data that reflects the full spectrum of genetic variation.
While precision medicine has the potential to revolutionize cancer treatment, disparities in access to genomic testing and targeted treatments persist among various populations. To ensure equitable healthcare, we need to better understand how specific genomic mutations disproportionately affect certain groups and build a system that represents all of Canada’s diversity.
Why EDI Matters in Precision Medicine
The integration of EDI principles in precision medicine addresses the varied genetic predispositions and cancer risk factors seen across diverse populations. Research has shown that certain ethnic and racial groups are at higher risk for specific types of cancer, often due to both genetic and environmental factors. For example:
- EGFR mutations in Asians with non-small cell lung cancer (NSCLC). Current research indicates that race plays a role in the genomics of NSCLC, Non-smokers of Asian descent are more likely to present with lung cancer characterized by mutations in the epidermal growth factor receptor (EGFR). The estimated prevalence of EGFR mutations in Asians with pulmonary adenocarcinoma is about 50-60 percent, while it is only 15-20 percent in Caucasian patients with pulmonary adenocarcinoma. EGFR mutations are also the most frequently found in lung adenocarcinomas of Asian female never smokers. The same is true for Hispanics, they are more likely to have an EGFR mutation compared with non-Hispanic whites.
- Lung cancer in Latin American populations. The prevalence of driver mutations such as EGFR and KRAS in Latin American populations differs from what is reported in Asians and Europeans. Studies have shown that KRAS mutations were the most common in the Latin American populations with lung cancer.
- Triple-negative breast cancer in Black women. Black women are disproportionately affected by triple-negative breast cancer (TNBC), a particularly aggressive form of breast cancer that is often associated with mutations in the BRCA1 gene. This type of breast cancer lacks the common receptors targeted by hormonal therapies and often requires more intensive treatment and is associated with poorer outcomes. Improved access to genomic testing, tailored therapies, and early intervention could significantly improve survival rates for Black women with TNBC. Despite the higher incidence, Black women are significantly less likely to receive genomic testing (based on US statistics).
- Prostate cancer in Black men. Men of African descent have the highest rate of prostate cancer related mortality in the world. The tumours of patients with African ancestry are more likely to harbour mutations in SPOP, a tumour suppressor gene that is mutated in approximately 10-15 percent of all prostate cancers. SPOP (Speckle-type POZ protein) mutation has been previously linked to aggressive prostate cancer.
This information is intended to help you understand the role of equity, diversity, and inclusion in precision medicine, particularly concerning how certain genetic or genomic mutations may affect different racial and ethnic groups. If you have questions about genetic or genomic mutations that are more common in your racial or ethnic background, it's important to discuss these with your doctor. They can provide more information about potential testing options and help you understand how this knowledge can impact your health and treatment choices.
Challenges to Achieving EDI
- Underrepresentation in Clinical Trials: Many minority populations are historically underrepresented, leading to gaps in understanding how different genetic mutations affect these groups.
- Access to Healthcare: Socioeconomic barriers can limit access to genomic testing and treatment options for underserved populations.
- Cultural Sensitivity: Cultural beliefs and mistrust in the healthcare system can deter individuals from participating in precision medicine initiatives.
Strategies for Inclusion
- Enhance representation in research: Increase efforts to recruit diverse populations for clinical trials to ensure data reflects genetic diversity.
- Improve access to care: Address financial constraints and geographic disparities through expanded telehealth services and community outreach.
- Culturally tailored education: Develop educational resources that resonate with the specific needs and concerns of diverse populations to promote health literacy.
- Partnerships with community organizations: Collaborate with community-based organizations to build trust and enhance outreach efforts regarding genomic testing and precision medicine.
Click here to read the Health eMatters Impact Report on EDI in clinical trials.
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