Precision medicine marks a shift from the one-size-fits-all approach to healthcare to tailored treatments and interventions that cater to an individual's unique genetic makeup, lifestyle, and environment. While precision medicine has the potential to improve patient outcomes and speed up clinical trials, it relies on the participation of diverse and representative populations. Diversity ensures that medical insights are applicable across a wide range of individuals, preventing biassed results that may favour specific ethnic or demographic groups.
This blog post explores the current landscape of diversity, equity, and inclusion (DEI) in precision medicine trials, shedding light on gaps and strategies for a more inclusive future of clinical trials.
Historically, clinical trials have lacked diversity due to a range of factors, including: systemic barriers that limit access to healthcare and clinical research opportunities for marginalised communities; inadequate outreach and recruitment strategies that fail to engage diverse populations; and biases within both minority and medical communities that may contribute to underrepresentation of individuals from a variety of racial, ethnic, gender, or socioeconomic backgrounds.
It is generally recognised that there is eurocentricity in genetics, with a 2009 study showing that 96% of participants in genetic research were of European descent. Ten years later, improvements have been made – but only to bring that down to 80%. This is a major issue because European ancestry only makes up about 16% of the global population.
The reason for this imbalance is, in part, due to much of the initial push into genetics starting in the United Kingdom. As the field of genetics has grown, much of the research has remained in Europe and America and has still mostly included those of European descent. The absence of diversity in precision medicine studies limits the ability to apply genetic discoveries broadly and hinders the comprehension of the genetic underpinnings of diseases within diverse populations.
Addressing this disparity is not only a matter of ethical responsibility but also a scientific imperative. By ensuring that clinical trial participants reflect the broader population, researchers can uncover variations in treatment response, side effects, and overall efficacy, leading to more effective healthcare solutions and better outcomes for patients.
More specifically, diversity in genetic data sets is crucial for several reasons. Firstly, genetic variations can substantially vary among different ethnic groups, and studying a wide array of populations enables the detection of genetic variants unique to specific cohorts. By enrolling individuals from diverse ethnic backgrounds, researchers can obtain insights into distinct genetic elements contributing to disease vulnerability and treatment reactions. Such insights are vital for designing precision medicine strategies customised for specific populations and enhancing the precision of genomics-guided drug development.
On the other hand, by including diverse populations in genetic research, researchers can uncover genetic markers that are relevant across different groups, leading to the development of more inclusive and effective therapeutic interventions.
Dr. Alicia Martin spoke to Sano Genetics in one of our podcast episodes about how a lack of diversity in research can affect patient outcomes. Dr. Martin raises the crucial question of how knowledge gained from genetic studies can effectively apply to globally diverse populations. While fundamental biology is shared among human populations, genetic variants differ in frequency due to unique human population histories. For instance, the predictability of certain traits, like height, is easier among people of European descent, but less accurate when applied to other populations, leading to misleading data outside the European model. This issue becomes even more critical in medical contexts, such as predicting heart conditions, cancer relapse, or schizophrenia, where incorrect predictions can result in misguided medical advice and potentially adverse outcomes.
Another key reason to drive diversity in precision medicine research is to address health disparities across different communities, both globally and nationally. Including more diversity in clinical trials can help address this inequality by finding treatments that work for everyone and understanding the differences in genotypes and patient outcomes across different populations.
To address the lack of diversity in research, stakeholders across the healthcare sector are taking concerted actions to promote inclusion in clinical trials. Some examples of types of initiatives and efforts that can improve DEI and drive appropriate representation in precision medicine clinical research are as follows:
Collaborating with community organisations and leaders to build trust and engage underrepresented populations in research. These partnerships can help tailor recruitment strategies, address cultural concerns, and ensure that research aligns with community needs.
Developing culturally-relevant materials and messages for recruitment efforts, ensuring that potential participants understand the importance of their involvement and feel respected and included.
Making research data more accessible and transparent to participants, which can enhance trust and participation from underrepresented communities.
Prioritising diversity in the collection and analysis of genetic data to prevent bias and improve the accuracy of findings. Projects like the Human Heredity and Health in Africa Initiative (H3Africa) focus on building diverse genetic databases.
Offering educational programs that explain precision medicine concepts, genetic research, and clinical trials in accessible language. This empowers individuals to make informed decisions about participating.
Expanding eligibility criteria, using centralised translation services, and implementing remote consent and monitoring options to reduce the burden on participants. Actively recruiting individuals from underrepresented backgrounds in research studies to ensure that data represents diverse genetic and medical characteristics. This can lead to more accurate and applicable findings for a broader population.
Ensuring diversity at leadership levels within research institutions and companies, which can drive a more inclusive organisational culture and decision-making processes.
Fostering ongoing relationships with participants beyond the duration of a study, acknowledging their contributions and keeping them informed about research outcomes.
Using mobile clinics and telemedicine to reach individuals in remote or underserved areas, reducing barriers related to transportation and access to healthcare facilities.
Establishing advisory boards composed of patients and community representatives to provide input on research priorities, study designs, and dissemination strategies.
Advocating for policy changes that incentivise diversity in research and address systemic barriers to participation, such as increased access to healthcare and reduced healthcare disparities.
Raising awareness about the importance of diversity in research through public campaigns, media, and community events.
Increasing diversity within research teams, including scientists, clinicians, and staff. Diverse teams are better equipped to design studies that consider various perspectives and to communicate effectively with diverse populations.
Providing researchers with training on cultural competency, implicit bias, and equitable communication to ensure respectful and inclusive interactions with participants.
Implementing t=regulatory changes that require diversity in trial enrollment, incentivising researchers to prioritise inclusion. For example, the FDA expects sponsors to address diversity and inclusion in their development programs and provide a rationale if the demographics do not represent the intended patient population.
Numerous efforts are actively striving to foster diversity within genetics research. For instance, the All of Us Research Program, led by the US National Institutes of Health (NIH), is actively enlisting over a million participants in its population genomics program, with a specific focus on reaching underrepresented groups like racial and ethnic minorities, individuals from disadvantaged socioeconomic backgrounds, and rural communities. Another collaborative endeavour, the African Genome Variation Project (AGVP), is dedicated to charting genetic diversity across various African populations, rectifying the scarcity of African genomic data in global research. These initiatives underscore the significance of encompassing a wide array of populations in genetic investigations, highlighting the implications of genetic variations across different communities.
The current state of DEI in precision medicine trials reflects both progress and persistent challenges, but the convergence of innovative strategies, regulatory reforms, and community engagement holds the promise of fostering a healthcare landscape that addresses the unique needs of each person. As the diversity gap in precision research gradually narrows, researchers will gain access to richer and more representative datasets that uncover insights into the genetic foundations of health and disease for diverse populations. The impact of genetic variations on health outcomes within different societal contexts is profound, and ensuring research populations are diverse will ensure scientific advancements can truly benefit those who need them, regardless of geographical, cultural, and socioeconomic boundaries.