Leading expert in pharmacogenomics and genetic ancestry, Dr. Esteban Burchard, MD, explains how an individual's specific genetic DNA ancestry at the gene level, not just their overall race, directly influences the risk of developing multiple sclerosis and the probability of experiencing medication side effects, highlighting a landmark study on African Americans that identified a European-derived genetic risk factor on chromosome 1.
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Genetic Ancestry and Multiple Sclerosis Risk: A Precision Medicine Approach
Jump To Section
- How Genetic DNA Ancestry Influences Multiple Sclerosis Risk
- The African American Population in Genetic Research
- The Montel Williams Case Study and Chromosome 1
- Precision Medicine in Multiple Sclerosis Diagnosis
- Genetic Ancestry and Medication Side Effects
- The Critical Role of a Medical Second Opinion
- Future Implications for Multiple Sclerosis Research and Care
- Full Transcript
How Genetic DNA Ancestry Influences Multiple Sclerosis Risk
Multiple sclerosis risk is heavily influenced by a person's specific genetic DNA ancestry at the individual gene level. Dr. Esteban Burchard, MD, clarifies that while multiple sclerosis is most prevalent in individuals of Northern European descent, the critical factor is the ancestry of specific genes rather than a person's overall racial or ethnic identity. This means that someone of primarily African descent can still carry European genetic variants that significantly increase their susceptibility to developing this autoimmune disease.
The African American Population in Genetic Research
Dr. Esteban Burchard, MD, identifies the African American population as a powerful group for genetic discovery studies related to conditions like multiple sclerosis. On average, the genome of an African American individual is composed of approximately 80% African and 20% European DNA ancestry. This admixture creates a natural experiment, allowing researchers to pinpoint disease-causing genetic variants by specifically analyzing the 20% of the genome with European origins, thereby narrowing the search for risk factors.
The Montel Williams Case Study and Chromosome 1
A pivotal study led by Dr. Stephen Hauser, Chairman of Neurology at UCSF, perfectly illustrates this concept. Dr. Hauser collaborated with African American television host Montel Williams, who has multiple sclerosis. Their research successfully identified a specific region on chromosome 1 that contained genes increasing the risk for multiple sclerosis. Crucially, as Dr. Esteban Burchard, MD, explains, this high-risk genetic region was found to have European DNA ancestry, providing a clear genetic explanation for the disease's presence in Mr. Williams and other African American patients.
Precision Medicine in Multiple Sclerosis Diagnosis
This advanced understanding moves multiple sclerosis diagnosis into the realm of precision medicine. It is no longer sufficient to consider only clinical symptoms; a modern diagnosis should incorporate a patient's genetic DNA ancestry information at the gene level. This granular detail provides a more complete picture of the disease's etiology and can help confirm a diagnosis, especially in patients where the presentation may be considered atypical for their perceived racial background.
Genetic Ancestry and Medication Side Effects
The influence of genetic ancestry extends beyond disease risk into treatment outcomes. Dr. Burchard's research in pharmacogenomics has shown that a person's genetic DNA ancestry can directly influence their probability of experiencing serious side effects from medications. He cites the example of treatments for epilepsy, where genetic background can predict adverse drug reactions. This principle applies equally to multiple sclerosis therapies, underscoring the need for personalized treatment strategies based on a patient's unique genetic makeup.
The Critical Role of a Medical Second Opinion
Seeking a medical second opinion for multiple sclerosis is a highly recommended step to ensure all aspects of a modern diagnosis are covered. Dr. Anton Titov, MD, emphasizes that a second opinion confirms the diagnosis is correct and complete, including an assessment of relevant genetic factors. Furthermore, it is essential for choosing the best personalized treatment strategy, ensuring that therapy is tailored to the individual's specific genetic profile to maximize efficacy and minimize potential side effects.
Future Implications for Multiple Sclerosis Research and Care
The work highlighted by Dr. Esteban Burchard, MD, has profound implications. The discovery of European-derived risk genes in African Americans with multiple sclerosis is not just important for that community; it enhances the overall understanding of the disease for all patients, including those of European descent. This research paves the way for more targeted drug development and reinforces that future clinical care must be guided by precision medicine principles that account for individual genetic ancestry to improve patient outcomes.
Full Transcript
Multiple sclerosis risks can be genetic. DNA ancestry at the individual gene level affects multiple sclerosis risks. Multiple sclerosis mostly happens in people of Northern European DNA ancestry.
A person of African descent can have 20% of European genetic DNA ancestry, which carries multiple sclerosis risk. African American TV show host Montel Williams has multiple sclerosis. He has European DNA ancestry at a specific gene.
Dr. Anton Titov, MD: Multiple sclerosis genetic risk factors. But specific genetic risk for MS can be present in some African Americans.
Dr. Esteban Burchard, MD: American talk show host Montel Williams has multiple sclerosis. His genetic risk factor for multiple sclerosis is inherited. This gene on chromosome 1 has European genetic DNA ancestry.
A leading precision medicine expert explains genetic risks for multiple sclerosis. Genetic DNA ancestry at the individual gene level influences risk of disease.
Dr. Esteban Burchard, MD: Video interview with a top expert in medical genetics and autoimmune disease. A medical second opinion confirms that a multiple sclerosis diagnosis is correct and complete. A medical second opinion ensures that genetic DNA ancestry information is included in the diagnosis of multiple sclerosis. A medical second opinion also helps to choose the best personalized treatment strategy for multiple sclerosis.
Seek a medical second opinion on multiple sclerosis and be confident that your precision medicine treatment is the best.
Dr. Anton Titov, MD: Multiple sclerosis genetic risk factors. What are examples of individual genetic DNA ancestry? How does DNA ancestry influence the risk of getting multiple sclerosis? How does genetic DNA ancestry influence the probability of having side effects of medications?
Your research shows that a person's genetic DNA ancestry influences the risk of developing multiple sclerosis. DNA ancestry influences the probability of serious side effects from epilepsy treatment medications. Please talk about that.
Dr. Esteban Burchard, MD: The scientific paper on multiple sclerosis was not our work, but it is a beautiful illustration of research in racially mixed populations. Multiple sclerosis is mostly a disease of Northern Europeans, but we also know that African Americans sometimes get multiple sclerosis.
You are a gene researcher. The best population to find a multiple sclerosis gene is the African American population. Because we know that on average, genes of African Americans are 80% of African descent and 20% of European descent. Therefore, you have to look at 20% of the genome, which is European in DNA origin.
Dr. Stephen Hauser is the Chairman of the Neurology Department at UCSF. He came to San Francisco from Massachusetts General Hospital in Boston. Dr. Hauser had a brilliant idea for a clinical trial with African Americans with multiple sclerosis. He connected with Montel Williams, a popular TV talk show host in the United States. Mr. Williams is African American and has multiple sclerosis.
They found a region on chromosome 1 that contains genes that increase risk for multiple sclerosis. These genes have European DNA ancestry. This clinical trial is important for African Americans and also for all patients with multiple sclerosis, including multiple sclerosis patients of European DNA ancestry.
This clinical trial improves our understanding of multiple sclerosis. Multiple sclerosis genetic risk factors. How individual gene DNA ancestry influences risk of multiple sclerosis. Precision medicine in multiple sclerosis.