An Everyday DNA blog article
Written by: Sarah Sharman, PhD
Illustrated by: Cathleen Shaw
It might surprise you to learn that humans are actually 99.9% genetically identical. How could such a tiny difference possibly contribute to all of the diversity among humans all over the world?
Our DNA is a massive instruction manual, and even small changes to those instructions can have big effects. They influence everything from physical traits like eye color to our predisposition to diseases like cancer and diabetes and even how we respond to medications.
For years, scientists have studied these genetic differences, but the vast majority of this research has focused on a narrow slice of the population. This leaves a huge gap in our understanding of how genetics impacts everyone’s health. In this post, we’ll explore how genetic variations impact our health and why genetic research across populations improves health for all.
Genetic variation and human health
How do these tiny DNA differences affect our health? If we continue thinking of DNA as an instruction manual, the seemingly small 0.1% difference in our DNA is like a few typos throughout the very long manual. Some typos have no effect, but others can significantly change how the instructions are carried out, affecting our health by causing disease or increasing the risk of developing diseases.
Some diseases, called Mendelian diseases, are caused by a change in just one gene. These are often easier to understand because the link is direct, like a single faulty part causing a machine to break down. However, most diseases are more complex. Many common diseases, like diabetes, cancer, and heart disease, have a genetic component but lifestyle and environment also play major roles.
Thanks to advances in technology, scientists can now rapidly study DNA, uncovering more health-related genetic variations. Hundreds of genes linked to treatable diseases or health risks, including hereditary forms of cancer, heart disease, and other conditions, have already been identified. This information is incredibly valuable for disease prevention and treatment. Even for diseases like Alzheimer’s and Huntington’s, where we don’t yet have cures, knowing the genetic risk can be important for families and future research.
Our genes also play a role in how our bodies respond to medications. When you take medication, your body has to process it and get it where it needs to go. Our genes contain the instructions for proteins, including enzymes, that help with this process. However, certain gene variations change enzyme efficiencies, affecting whether a drug works or causes side effects or harmful reactions.
Pharmacogenomic testing examines these gene variants to determine how your body is likely to process specific drugs, such as statins, certain chemotherapeutic drugs, and some antidepressants. This information is incredibly valuable because it helps healthcare professionals choose the most effective and safe treatment options for you.
Genetic information can help scientists and physicians develop more personalized approaches to prevention and treatment based on our unique genetic makeup. However, they need the most accurate information to make these informed decisions and, in many cases, they’re not working with a full picture of human genetics and human health.
Growing need for more genetic information from all kinds of people
The promise of personalized medicine hinges on a complete understanding of human genetic variation. That means we need more genetic data from diverse populations. Relying on limited datasets skews our understanding of genetic contributions to disease and medication response, making it potentially inaccurate and even misleading for certain groups. This is particularly concerning given known genetic differences between different racial and ethnic backgrounds.
To truly understand the genetic contributors to disease and medication response for everyone, we need a more representative dataset. Imagine trying to assemble a 10,000-piece puzzle but only having half the pieces – and all those pieces are from the same corner of the picture. You’d have a very incomplete and potentially inaccurate view of the whole image. That’s the challenge we face with our current genetic databases.
Building representative datasets is complex. In the early days, when genetic research was much more costly and complex, we limited samples for simplicity while methods were developed and honed.
As time went on, several other factors contributed to the lack of diversity. These include historical medical mistrust, particularly within communities of color, stemming from events like the Tuskegee Syphilis Study; the location of research studies, often inaccessible to many; and cultural differences in attitudes towards genetic research. For example, some communities may have concerns about data privacy or the potential misuse of genetic information.
This lack of representation perpetuates health disparities. Achieving true health for all requires building trust, acknowledging and addressing historical injustices, making research more accessible, and engaging with communities respectfully to understand their specific needs and concerns. It’s not just about collecting data; it’s about building genuine partnerships and ensuring that the benefits of genetic research are shared by all.
Meet Acclinate: A company diversifying clinical trials
Some amazing organizations are working to build a more inclusive future for healthcare. One such company, Acclinate (located on HudsonAlpha’s campus) is helping to break down the barriers keeping minority groups from robust participation in clinical trials. They’re working to empower these communities with access to valuable information, enabling them to take greater control of their healthcare journeys.
Acclinate’s co-founders, Del Smith, PhD, and Tiffany Whitlow, were driven by deeply personal experiences with the healthcare system. Del’s mother passed away from tuberculosis after a trial-and-error approach to treatment, and he later discovered a clinical trial for drug-resistant TB she was never offered. Tiffany, as an adoptee without access to her family health history, experienced the consequences of underrepresented clinical research firsthand when her young son with asthma was prescribed albuterol. She later learned this common medication is significantly less effective in African Americans and Puerto Ricans.
Del and Tiffany’s experiences weren’t isolated incidents. They represent a larger pattern of exclusion in healthcare and research, a pattern that has profound consequences. For them, it wasn’t just about their families; it was about the countless others who were being left behind because of a lack of representation.
This realization fueled their determination to create change, leading them to establish Acclinate, which focuses on diversifying clinical trial participation. Currently, only about 5 percent of clinical trial participants come from a racial or ethnic minority, despite these groups comprising approximately 40% of the U.S. population. This vast underrepresentation means we often don’t know if certain drugs will be effective or safe for diverse populations, which can lead to unequal treatment and poorer health outcomes for minority communities.
Acclinate is tackling this challenge on multiple fronts. They’re working to build trust and create community within minority groups, fostering open dialogue about health, research, and genetic testing. Acclinate’s NOWINCLUDED platform primes communities of color with education, resources, and a place to connect that empowers them to take control of their medical journeys. Over the past five years, NOWINCLUDED has grown to reach more than 120,000 members and reinvest over $1.6M into health equity initiatives.
Simultaneously, Acclinate partners with pharmaceutical companies, healthcare organizations, and research institutions to increase diversity and representation in their clinical trials. Acclinate helps these organizations design more inclusive studies, connect with diverse communities, and address the specific needs and concerns of potential participants. They also provide educational resources and support to empower individuals to make informed decisions about their health.
By bridging the gap between researchers and communities, Acclinate is playing a vital role in ensuring that the promise of personalized medicine becomes a reality for everyone, regardless of their background.
