Understanding how each patient is unique is key to precision medicine. Individuals from the same ethnic origin or geographical population have genetic features in common. This leads to variances in how different populations respond to therapies and drugs. Discovering and developing personalized treatments requires analyzing a variety of patient samples that represent natural genetic variability. Ensuring ethnic diversity in biospecimen collections is essential, especially in the early preclinical stages of developing a treatment or drug.
One issue that must be dealt with is obtaining samples that are genetically diverse and geographically distinct. Ethnic diversity needs to be part of essential research from the beginning. Most patient-derived samples are obtained from primarily Caucasian donors.
The biopharma field has continued to achieve amazing results over the last few decades. However, drug development is still risky, costly, and a lengthy process with many treatment options never making it all the way to the market. To try to bypass these types of issues and ensure efficacious healthcare continues, both the pharmaceutical and scientific communities must find sustainable solutions. Take, for instance, how geographical and ethnic disparities in biomarkers and cancer incidence are reflected in both clinical and early-stage studies.
Cancer Biomarker Expression and Geographical Disparities
The goal of personalized medicine is to oversee and treat diseases based on the genetic and molecular signature of each patient. This is well-settled as the future direction of modern medicine. But it stresses the importance of considering genetic diversity when assigning treatments. Preclinical and clinical research needs to consider various patterns that are characteristic of a specific population and then ensure the pool of individuals represents the populations that are expected to use the tested drug.
When it comes to cancer, evidence continues to support the significant differences in cancer biomarker expression, incidence, and mortality rates, and the response to a specific therapy among ethnically and racially diverse populations. Lung cancer, for example, is associated with the highest mortality rates associated with malignant diseases. Over the last few years, many successful therapies targeting lung cancer mutations have evolved. Even though this demonstrates promising results for many patients, cancer relapse and resistance are persistent issues.
Researchers have recently discovered that lung cancer mutation has a higher incidence in women and patients of Asian descent. But some studies have also revealed that there is a lack of data obtained from lung cancer patients from Central and South America, the Middle East, Central Asia, and Africa. This showcases the critical need for better ethnicity, including in clinical studies. Sadly, this is not an isolated situation. There remains a significant underrepresentation of different ethnic groups in early and clinical-stage research.
Lack of Ethnic Diversity and Data Persists
The NIH Office of Minority Health Research was established in 1990 with the goal of focusing on health disparities. It issued guidelines in 1993 which required government-funded biomedical research to include minorities and women. This has been widely disregarded by the pharma and research communities. The human genome was decoded in the early 2000s, after which the GWAS (Genome-Wide Association Studies) became a useful and powerful tool by providing enormous amounts of data for biomedical research.
Patient-derived tissue samples and cell cultures are the basic disease models used starting in the earliest steps of drug development. Although things are beginning to change, some of the earliest human tissue samples were not accompanied by any records regarding ethnic origins. More research and work are needed to help us understand how biomarkers in an ethnic group may be applied to another. Then, we can evaluate whether genetic and ethnic underrepresentation could possibly be the key to some of the side effects and non-responsiveness often detected in some patients.
Final Thoughts
It’s important that the bio-industry overcome the obstacle of the underrepresentation of geographical and ethnic diversity. But it will need to be understood and implemented beginning at the earliest stages and continuing throughout the latter stages of biomarker and drug development. Scientists and researchers must consider the ethnic origin of disease models. Biobanks must collect information on the background and origin of donors. Medical doctors need to be more involved in clinical and preclinical projects while working towards including patients from a variety of backgrounds. These changes will help biomedical research and ensure future patients will benefit from drugs that are safe and efficient.
References:
https://www.eurekalert.org/news-releases/634130
https://www.ft.com/content/afd0ac7e-fd3a-11e8-b03f-bc62050f3c4e
https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/cncr.32020
https://ascopubs.org/doi/full/10.1200/JCO.22.00754
https://www.breastcancer.org/research-news/minorities-underrepresented-in-cancer-research
https://www.fda.gov/consumers/minority-health-and-health-equity/clinical-trial-diversity
https://pubmed.ncbi.nlm.nih.gov/26609494/
