Leading expert in pharmacogenomics and medical genetics, Dr. Esteban Burchard, MD, explains how genetic ancestry information, beyond broad racial categories, is critical for precision medicine, influencing individual response to cancer medications and likelihood of side effects at the specific gene level, with applications like tumor genetic profiling and adjuvant therapy selection already in FDA-approved use today.
Plus de All
Plus de Diagnostic Detectives Network
How Genetic Ancestry Tests Improve Precision Medicine and Cancer Treatment
Jump To Section
- Precision Medicine and Genetic Ancestry
- DNA Ancestry and Treatment Response
- Gene-Level Ancestry Impact
- Cancer Therapy Selection with Genetics
- Tumor Gene Expression Profiling
- The Future of Personalized Cancer Care
- Medical Second Opinion Importance
- Full Transcript
Precision Medicine and Genetic Ancestry
Precision medicine leverages genetic information to tailor medical care to the individual patient. Dr. Esteban Burchard, MD, a Professor of Pharmacogenomics, emphasizes that genetic DNA ancestry tests are a fundamental component of this approach, moving beyond a one-size-fits-all model. This shift is crucial because an individual's unique genetic background significantly influences how they metabolize medications, respond to treatments, and experience side effects.
The integration of ancestry information allows for a more precise molecular diagnosis, particularly in complex diseases like cancer. As Dr. Anton Titov, MD, discusses, this represents the future of oncology and other medical fields, where treatment is customized based on a patient's specific genetic blueprint.
DNA Ancestry and Treatment Response
An individual's DNA ancestry is a powerful determinant of their response to specific medications. Dr. Esteban Burchard, MD, points out that this is not about broad racial categories but about the precise genetic information inherited from one's ancestors. This ancestral data can predict whether a drug will be effective, ineffective, or even cause adverse reactions, making it a critical factor in treatment selection.
This concept is central to pharmacogenomics, the study of how genes affect a person's response to drugs. Understanding a patient's genetic ancestry helps clinicians avoid trial-and-error prescribing and instead choose the right medication at the right dose from the start, improving safety and efficacy.
Gene-Level Ancestry Impact
The most significant impact of genetic ancestry occurs at the level of individual genes. Dr. Esteban Burchard, MD, clarifies that it is the specific variations within genes, which can be linked to particular ancestral populations, that directly affect biological function. For example, certain gene variants can influence enzyme activity, altering how quickly a drug is processed by the body.
This granular view explains why two individuals from the same broad population group can have vastly different reactions to the same treatment. Focusing on gene-level ancestry provides a much more accurate and personalized prediction of treatment outcomes than broader categorizations.
Cancer Therapy Selection with Genetics
Genetic profiling of tumors is a direct application of precision medicine that is revolutionizing cancer therapy selection. Oncologists now routinely test tumor genetics to identify specific mutations or biomarkers that can be targeted by newer, more effective drugs. This approach is especially prominent in cancers like breast cancer, lung cancer, and melanoma.
Dr. Esteban Burchard, MD, confirms that this is not a future concept but a current clinical practice. Based on the genetic test results of a tumor, a medical team can choose one targeted therapy over another, ensuring the treatment attacks the cancer based on its unique molecular drivers.
Tumor Gene Expression Profiling
Beyond identifying targetable mutations, tumor gene expression profiling provides critical prognostic information that supplements traditional cancer staging. While staging (e.g., Stage 1, 2, 3, or 4) classifies cancer based on size and spread, gene expression patterns reveal the tumor's biological aggressiveness.
Dr. Esteban Burchard, MD, notes that this FDA-approved technology helps answer a crucial question: will the patient benefit from adjuvant chemotherapy? For instance, in breast cancer, tests like Oncotype DX® analyze a set of genes to calculate a recurrence score, guiding decisions on whether chemotherapy is necessary after surgery, thus sparing many patients from its toxic side effects.
The Future of Personalized Cancer Care
The future of cancer treatment lies in deepening our understanding of the interplay between tumor genetics and a patient's own inherited DNA ancestry. This dual analysis will allow for hyper-personalized treatment strategies that are maximally effective and minimally toxic. Dr. Anton Titov, MD, highlights that this evolving field makes knowing one's genetic ancestry increasingly important for optimal health outcomes.
As research expands to include more diverse populations—addressing the historical bias where 96% of genome-wide association studies were done on people of European ancestry—the tools of precision medicine will become accurate and accessible for all patients, regardless of their background.
Medical Second Opinion Importance
Seeking a medical second opinion is a highly recommended step for any cancer diagnosis, particularly to ensure precision medicine principles are applied. A second opinion confirms that the initial diagnosis is correct and complete, including essential genetic testing for markers like BRCA1 and BRCA2 in breast cancer.
As discussed by Dr. Anton Titov, MD, a second opinion from a specialist like Dr. Esteban Burchard, MD, provides confidence that the treatment plan incorporates all available genetic and ancestral information. This process ensures patients receive the most advanced, personalized treatment strategy possible, leveraging cutting-edge tools like tumor genetic profiling and pharmacogenomics.
Full Transcript
Dr. Anton Titov, MD: Genetic profiling of tumors improves cancer treatment. How do genetic ancestry DNA tests help in cancer therapy selection?
Genetic DNA ancestry information influences response to treatment.
Dr. Esteban Burchard, MD: Genetic DNA ancestry tests and precision medicine are widely used in medicine.
Dr. Anton Titov, MD: Genetics plays a role in side effects of medications. Genetic DNA ancestry is important at the individual gene level.
Genetic DNA ancestry tests and precision medicine are the future of cancer treatment. Precision medicine helps to determine response to medications.
Dr. Esteban Burchard, MD: Personalized medicine helps to treat breast cancer. Precise molecular diagnosis of breast cancer is precision medicine.
Video interview with a top expert in medical genetics and asthma. A medical second opinion confirms that a breast cancer diagnosis is correct and complete. It ensures that genetic DNA ancestry information is included in the diagnosis of breast cancer (BRCA1 and BRCA2).
A medical second opinion also helps to choose the best personalized treatment strategy for breast cancer. Seek a medical second opinion on breast cancer and be confident that your precision medicine treatment is the best.
Dr. Esteban Burchard, MD: Genetic DNA ancestry test and precision medicine. Medical second opinion.
Dr. Anton Titov, MD: You published in Nature in 2011 that 96% of all genome-wide association studies are done around the world. 96% of studies are done on people of European DNA ancestry.
That's correct. Your work shows that ancestral DNA information determines individual response to medications. But it's not just about broad racial groups. It's all about the ancestral DNA information.
It is the genetic information at the individual gene level. You showed that it is the individual DNA ancestry information.
Dr. Anton Titov, MD: It makes the most impact at the gene level. Individual genetic DNA ancestry determines how an individual responds to medications. Genetic DNA ancestry determines the likelihood of side effects.
Yes.
Dr. Anton Titov, MD: How can genetic DNA ancestry information be applied in precision medicine? Medical second opinion (Professor of Pharmacogenomics, UCSF).
Dr. Esteban Burchard, MD: We are doing that already today. For certain tumors, we will measure the genetics of the tumor. Based upon your test results, we might give you one medication or another medication.
Or we might give you adjuvant cancer therapy based upon your gene expression pattern. Right now, we classify breast cancer as stage 1, stage 2, stage 3, and stage 4. But that was based on an old classification system.
Now we can look at tumor gene expression pattern. This is in addition to giving you the classic tumor staging. We can tell you if you would benefit from additional chemotherapy.
That is new and cutting-edge. That is occurring right now. It's FDA-approved.
Genetic DNA ancestry tests and precision medicine. Cancer treatment based on DNA ancestry of individual genes provides the best results. Know your genetic DNA ancestry.