Advancements in Cancer Risk Screening with Genomic Sequencing

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• Genomic Sequencing for Cancer Risk Assessment
• Personalized Medicine Through Genomic Data
• Pharmacogenomics and Medication Response
• Early Cancer Detection with Genomic Insights
• The Future of Genomic Sequencing in Healthcare
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Genomic Sequencing for Cancer Risk Assessment

Dr. Nadir Arber, MD, explains how next-generation sequencing (NGS) and whole exome sequencing (WES) provide detailed insights into individual cancer risks. These technologies allow for the identification of DNA mutations that can significantly impact diagnostic and treatment decisions. By analyzing a person's genome, healthcare providers can better predict cancer risks and tailor prevention strategies accordingly.

Personalized Medicine Through Genomic Data

Dr. Nadir Arber, MD emphasizes the role of genomic data in personalizing medical care. As genomic sequencing becomes more accessible, individuals will receive personalized health information that can guide their medical decisions. This approach allows for a more targeted prevention strategy, focusing on specific genetic predispositions to various diseases, including cancer.

Pharmacogenomics and Medication Response

Dr. Nadir Arber, MD, discusses the importance of pharmacogenomics in understanding how genetic variations affect medication responses. Genomic data can reveal how individuals metabolize drugs differently, which is crucial for optimizing medication dosages and minimizing adverse effects. This personalized approach ensures safer and more effective treatments for patients.

Early Cancer Detection with Genomic Insights

Dr. Nadir Arber, MD highlights the potential of genomic sequencing in early cancer detection. By identifying genetic mutations associated with increased cancer risk, healthcare providers can implement early intervention strategies. This proactive approach can significantly improve outcomes by catching cancer at an earlier, more treatable stage.

The Future of Genomic Sequencing in Healthcare

Dr. Nadir Arber, MD, envisions a future where genomic sequencing is an integral part of healthcare. As the cost of sequencing continues to decrease, more individuals will have access to this valuable information. Dr. Arber predicts that within the next decade, personal genomic data will be widely used to guide health decisions, leading to better prevention and treatment of diseases.

Full Transcript

Dr. Anton Titov, MD: Next Generation Sequencing, NGS, and Whole Exome Sequencing, WES, allow for a more granular assessment of individual cancer risks and predict reactions to many medications. When a child is born, soon doctors will hand a flash drive with the child’s genome, helping to assess lifetime health risks. One in four people is found to have DNA mutations that affect diagnostic and treatment considerations.

Dr. Anton Titov, MD: Cancer risk evaluation by next-generation sequencing, NGS, and early cancer risk detection by Whole Exome Sequencing, WES, are becoming more popular and available. Next-generation sequencing is certainly cheaper. What are the opportunities to screen for increased cancer risks by whole genome sequencing?

Dr. Nadir Arber, MD: I think this is the way to go. This is an early cancer diagnosis strategy in the near future. There is a project of the European Union 2020 or Horizon 2020. This is how I envision gene sequencing for cancer risk detection. A child is going out of the delivery room, and physicians will give the parents a small disk or a flash drive key with the words, "This is the genome of your child." Whenever you approach physicians, be careful—they are dangerous! Consult with this DNA data because it's been shown that genes affect how you respond to medicines.

Dr. Nadir Arber, MD: When I give someone with a fever paracetamol, I give 500 to 1000 milligrams for everyone. But obviously, everyone has a different metabolism rate and will react differently. With paracetamol, the gap between efficacy and toxicity is huge. You're not concerned about anything. But for other medications, the therapeutic window is much narrower. Cancer risk detection is definitely worth a personal approach. This is called pharmacokinetics.

Dr. Nadir Arber, MD: Genomic data can also tell us a lot about the risk of developing different cancers, the diseases you're prone to, and where you should put your prevention efforts. Sometimes someone has a lot of obesity-predisposing genes. Then we'll be able to watch weight more carefully, or vice versa. I think whole genome sequencing is going to tell us a lot about personal health risks. Obviously, it's not going to replace clinical medicine, but it's going to help us a lot in educating patients.

Dr. Nadir Arber, MD: Personal genome sequencing will help to prevent diseases and overcome them. Whole exome sequencing will tell us how to educate patients. Personal genomics data is definitely going to be used much sooner than many think. In the next decade, it's going to happen. Most healthy people in the Western Hemisphere are going to use personal genomic data. Prices of gene sequencing will go down to a few hundred dollars, making it affordable for everyone.

Dr. Anton Titov, MD: You published a very interesting paper that looked at 25 healthy people. It turns out that 24% of them—almost 1 in 4—have "management changing" DNA mutations. These mutations could predispose them to increased risk of cancer and heart disease. 80% of people tested harbored 1 to 3 different mutations. These mutations required alterations in the dosages of medications approved by the US FDA. Could you please tell us about gene sequencing to find cancer mutations in healthy people?

Dr. Nadir Arber, MD: I was surprised. I did not expect so much knowledge from this DNA genome sequencing. It's going to change my clinical judgment. Our early cancer detection methods will be changed not only for me but for my entire team. And indeed, we did. We found someone who is prone to develop breast cancer because she had a BRCA mutation, but clinical history did not tell us about breast cancer risk.

Dr. Nadir Arber, MD: We had a daughter and her mother. The mother has a tendency to develop colon polyps. Whenever I did a colonoscopy, I found polyps. Then we found a gene that predisposed her to colon polyps and colon cancer. It showed us matching between the genotype and the phenotype. The daughter did not have this gene. We told the daughter this, so we don't have to do a new colonoscopy every 1-2 years because she does not carry the gene that her mother carries.

Dr. Anton Titov, MD: You can have it both ways. All this information was just from whole exome sequencing. I think the fidelity of sequencing was not that great. In the future, we will improve whole genome sequencing quality. I'm sure we can gain much more information about early cancer detection. But there are a lot of cancer-causing genes that we still do not know about.

Dr. Nadir Arber, MD: We don’t know their functions. We still do not exactly know what is meaningful among all these genes. It is much more complicated. We do the whole exome sequencing, which is only about 1% of all the DNA bases. There is a lot of DNA between the exons. I don't believe in the term "garbage DNA." Everything has a meaning. But at the same time, it's very interesting that interpretation of the genome is also very important.

Dr. Nadir Arber, MD: Of course, there are a lot of gray areas in whole genome sequencing to find cancer risks. But some of the genes have well-known mutations that can predispose people to cancer. Therefore, we shouldn't pursue an "ostrich strategy" for cancer risk detection. We should really know what's in the genes. A mutation that is found is a clear-cut answer for cancer risk. Then it requires manual curation of the genome as was done in your paper. It requires some altered behavior with cancer risk mitigation. I absolutely agree!