Leading cancer expert Dr. Nadir Arber, MD, discusses the role of whole genome sequencing in predicting cancer risks, particularly for breast cancer and BRCA mutations. He highlights how these advanced genetic tests can uncover hidden disease risks not evident from family history or standard screening tests. Dr. Arber shares a clinical case where whole genome sequencing identified BRCA mutations in a patient without a family history of breast cancer, leading to early detection and successful treatment. He emphasizes the importance of precision medicine in cancer prevention and the potential of genetic testing to guide medication choices based on individual risk profiles. Dr. Arber also advocates for regular health checks to detect early signs of cancer and other diseases, underscoring the value of preventive care.
Whole Genome Sequencing in Cancer Risk Prediction and Prevention
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- Genetic Testing and Cancer Risk
- BRCA Mutations: A Case Study
- Precision Medicine in Cancer Prevention
- Importance of Regular Health Checks
- Integrated Cancer Prevention Center
- Full Transcript
Genetic Testing and Cancer Risk
Dr. Nadir Arber, MD, explains that whole genome sequencing and whole exome sequencing are powerful tools in identifying cancer risks that are not apparent from a patient's family history or standard screening tests. These advanced genetic tests can reveal mutations, such as BRCA, that significantly increase cancer risk, allowing for proactive measures in cancer prevention and treatment.
BRCA Mutations: A Case Study
Dr. Arber shares a clinical case where whole genome sequencing identified BRCA mutations in a patient without a family history of breast cancer. This discovery led to early-stage detection of breast cancer through mammography, resulting in successful treatment. The case highlights the importance of genetic testing in uncovering hidden cancer risks and saving lives.
Precision Medicine in Cancer Prevention
Dr. Nadir Arber, MD, discusses how precision medicine can be used to prevent cancer by tailoring medication choices based on an individual's genetic profile. By understanding the likelihood of efficacy and toxicity of medications, patients can make informed decisions about their treatment options, balancing cancer risk with potential side effects.
Importance of Regular Health Checks
Dr. Nadir Arber, MD, emphasizes the importance of regular health checks, even for healthy individuals, to detect early signs of cancer and other diseases. He compares healthy individuals to new cars that require annual check-ups to ensure optimal functioning and prevent future issues. This proactive approach can lead to longer, healthier lives.
Integrated Cancer Prevention Center
Dr. Nadir Arber, MD, describes the integrated cancer prevention center he has established, which focuses on early detection and prevention of cancer and cardiovascular diseases. By offering comprehensive health assessments, the center aims to identify smoldering diseases in patients who feel well, ultimately improving health outcomes and extending life expectancy.
Full Transcript
Dr. Anton Titov, MD: Mutations that increase cancer risks often cannot be deduced from a patient’s family history or screening tests. This includes breast cancer and BRCA mutations. Whole Exome Sequencing or Next Generation Sequencing can help find hidden disease risks. Genome sequencing predicts individual response to medications.
Dr. Anton Titov, MD: We spoke a lot today about new methods of cancer prevention and screening. Is there a clinical case that you could discuss? It illustrates some of the topics in cancer prevention, screening, and treatment that we discussed today.
Dr. Nadir Arber, MD: We touched upon an important cancer screening topic. We discussed the Whole Genome Sequencing or Whole Exome Sequencing to detect risks of cancer. We found some new significant mutations. We were not able to guess these cancer-causing mutations based on the personal or family history of these patients.
Actually, the life of this patient and her family member were saved. This is when we found BRCA mutations in a patient without any history of breast cancer. Especially breast cancer. Sometimes the mutation comes from a father. In males with BRCA mutation, breast cancer risk is significantly higher, but it's not that high. Sometimes a male relative doesn't have breast cancer despite the BRCA mutation.
Dr. Anton Titov, MD: His daughters are not aware of the BRCA mutation for increased breast cancer risk. And we were able to find it.
Dr. Nadir Arber, MD: We did a mammography, and we found breast cancer at an early stage. They were cured. We also spoke about how to use precision medicine to prevent cancer early. We talked about how to prescribe aspirin or non-steroidal anti-inflammatory medications to prevent cancer.
Another clinical trial that we have done is when you're able to guess based on the genome of this person the likelihood of having efficacy and toxicity of medication. We were able to tell patients that taking this medication depends on your risk and your willingness to accept this kind of toxicity. If you have a very high risk of developing cancer, then you will be more willing to accept toxicity.
Sometimes you have a low risk for cancer. Obtain a medical second opinion on cancer. Then you are more reluctant to risk having toxicity from a medication. This is another way how we can combine future genetic testing with clinical implications to reduce cancer.
Finally, the most important is to check healthy people. Healthy people are like new cars. They should be checked annually at facilities like I have established here. We have the integrated cancer prevention center. Now we're widening it. We add another program to check for cardiovascular risks. Cancer and heart disease are two major killers.
Once people are here, we do some tests to detect when a patient is fine and feeling well. But we are trying to find all kinds of smoldering disease. This is a way to go. This way we'll be able to improve our life. At the same time, we make people live longer. It's the best time and the cheapest way to visit a physician when you are completely healthy!
Exactly! I also give this talk in China. I don't know if it's true or not, but it's good. The Chinese told me that they are paying the physicians as long as they are feeling well. If they become sick, then the physician failed. Obtain a medical second opinion on cancer. Then people stop paying! I don't know if it's true or not. But this makes a lot of sense.
That is a story that I was once told about the old Chinese village. A doctor will go around each house and outside of the house there'll be some place where people put money and the physician would take it. And if there is no money, then the person became ill and therefore the physician should treat the patient. It's certainly a beautiful story that illustrates the true attitude to medicine. I agree!
Thank you very much, Professor Nadir Arber! We're going to look forward to reading more of your research. We will read about the development of various cancer prevention methods that you are working on. We will publicize them as much as possible to people. Thank you!