By the time Marcus was four, his family had seen eleven specialists, received five different diagnoses, and still had no clear answer for why he wasn’t developing like other children. One genome sequencing test changed everything: a rare genetic variant explained his developmental delays and gave his family the answers they had spent years searching for.
For many families, the search for answers to a child’s unexplained medical condition can take years. They may see multiple specialists, undergo countless tests, and receive conflicting diagnoses, all without a clear understanding of what is causing their loved one’s symptoms. This prolonged and often frustrating process, sometimes called a “diagnostic odyssey,” affects thousands of families each year.
Stories like Marcus’ are becoming increasingly common. Genome sequencing, a type of genetic testing, is a comprehensive diagnostic tool that can identify underlying causes of disease and, in some cases, guide life-saving care. Yet for many individuals from historically marginalized communities this technology may feel distant or untrustworthy. As genome sequencing becomes more integrated into clinical care, understanding what it is while also acknowledging and addressing concerns surrounding its use is crucial to ensuring that the benefits of genomic medicine are realized across all communities.
Deoxyribonucleic acid (DNA) is a string of chemical letters that provides a blueprint for the body’s development and function. The full 2.2 billion DNA letters found in each cell in our bodies is called the “genome.” Every individual has a unique sequence of DNA letters that helps explain many of our biological differences, including traits such as eye color, height, and susceptibility to certain diseases. Sometimes, however, differences in DNA can cause diseases. To determine whether a DNA change is causing disease doctors need a way to read the letters in a patient’s genome.
Genome sequencing is a tool that reads the letters in a patient’s genome, akin to a “spell check” for DNA. Differences from what is expected, which are called “variants,” are further analyzed by doctors and scientists to investigate whether they could cause a patient’s medical condition. There are three different types of test results: negative, positive, and uncertain. Negative results indicate that nothing was found in the DNA to explain a patient’s condition. A positive result indicates that a variant causing the condition was identified. A Variant of Uncertain Significance (VUS) indicates a variant has been detected, but there is not enough evidence to link it to the patient’s condition. A VUS poses a conundrum for both clinicians and patients, as there is no clear guidance on what the result means and how to use it. Notably, VUS results are more common in people of color because the reference genome that is used to decide what DNA letters are expected is predominantly developed based on samples from white individuals. As a result, when doctors see a VUS in a patient of color, they can’t be sure if the VUS is related to disease or is simply a normal variation. Increasing representation of historically underrepresented populations in genomic research is one of the most important ways to reduce this discrepancy and improve the interpretation of genetic variants.
Scientific limitations are only one challenge facing genomic medicine. Questions about privacy, consent, and trust also shape how individuals and communities engage with genetic testing.
Genome sequencing has become commonplace in a variety of clinical scenarios, from prenatal testing to rare disease detection to cancer treatment, and many families have ended years-long diagnostic journeys only after genomic testing. Still, while genome sequencing offers tremendous clinical benefits, it also raises important ethical, legal, and social considerations, many of which center on trust.
For historically marginalized communities, including racial and ethnic minorities and individuals from lower socioeconomic backgrounds, concerns about genomic data being misused or inadequately protected are well-founded and rooted in real history. Public awareness of these concerns grew following the publication of The Immortal Life of Henrietta Lacks, which chronicled how Henrietta Lacks’s cells were used in research without her knowledge or consent and highlighted broader failures in research ethics. As the need to protect against such abuses has been increasingly recognized, meaningful protections have been put in place. Changes to the Federal Policy for Protection of Human Subjects (also known as the Common Rule) were made in 2015 that included enhanced protections for biospecimen usage in research. The Genetic Information Nondiscrimination Act (GINA), a federal law passed in 2008, prohibits employers and health insurance companies from discriminating against individuals based on genetic information, though there are some exclusions. Despite these protections, concerns around data privacy, ownership, and potential discrimination understandably persist.
The underrepresentation of various communities in genomic research also presents a significant scientific and clinical gap. Much of our current genomic data is derived from populations of European ancestry, which can limit the accuracy and relevance of findings for diverse populations. Increasing participation from minority communities is therefore not only a matter of equity, but is a scientific necessity. Greater inclusion will improve variant interpretation, enhance diagnostic accuracy, and ensure that advances in genomic medicine are applicable and beneficial to all populations.
Increasing participation from historically marginalized communities requires more than invitation; it requires intentional, community-centered engagement. Individuals and families can become involved by participating in clinical research studies, enrolling in genomic screening programs when appropriate, and engaging with trusted healthcare providers to better understand the role of genetic testing in their care. However, meaningful involvement depends on accessible education, culturally responsive communication, and partnerships with community-based organizations that already hold trust within these populations.
Healthcare institutions and research programs must also create clear, transparent pathways for participation, ensuring that individuals understand how their data will be used, protected, and ultimately benefit their communities. For example, the All of Us Research Program, overseen by the National Institutes of Health, aims to build one of the most diverse biomedical research databases in the United States. As of this year, nearly half of participants identify as members of racial or ethnic minority groups. Harvard University’s recent iteration of the BabySeq program used genome sequencing to screen for genetic conditions in healthy infants from facilities that primarily serve minority and lower-income families.
Progress is being made but success ultimately depends on open dialogues between institutions and communities of color. If you or someone you love has been offered genomic testing, ask your doctor what the results could mean for your care, your family, and also for future generations who look like you. Genomic medicine only becomes more equitable when the people it is meant to serve are part of building it. Building a more equitable future for genomic medicine requires both scientific advancement and community trust. Your genome, your story, and your family’s history are not just data points, they are contributions to a body of knowledge that can help the next child like Marcus get answers.
By subscribing, you consent to receive emails from BlackDoctor.com. You may unsubscribe at any time. Privacy Policy & Terms of Service.
