How the Precision Oncology Revolution is Redefining Cancer Care

How Cancer Precision Medicine is Transforming Cancer Care

Chen's story showcases the transformative power of cancer precision medicine. From his initial diagnosis to his triumphant journey towards hope, his experience highlights the possibilities of tailored treatments based on individual genetic changes.

Chen, a 55-year-old man, found out he had lung cancer through a screening test designed for people at high risk. Even though he had never smoked, he had a family history of lung cancer. This test picked up on tiny amounts of tumor DNA in his blood, indicating a specific genetic change, or mutation, linked to lung cancer.

Chen underwent a scan that showed a small tumor in his right lung. After the tumor was surgically removed, tests confirmed the genetic mutation associated with his cancer. He was recommended to start treatment with Tagrisso, a medication designed to block the mutated gene's activity and halt tumor growth.

For three years, Chen took Tagrisso daily, guided by a study called the ADAURA trial. This study found that Tagrisso decreased the chance of cancer recurrence or death by 80% in early-stage patients compared to a placebo. Chen also regularly checked his blood levels of tumor DNA to see if any traces of cancer remained or came back.

Chen experienced only mild side effects from Tagrisso, such as a rash and diarrhea. The levels of tumor DNA in his blood stayed undetectable, meaning no signs of disease were found. This made him feel hopeful and more confident about his future. He resumed his usual activities, including work, travel, and spending time with loved ones.

Chen's story is just one example of how precision medicine, a new approach to cancer treatment, is changing lives. This method tailors treatment to individual patients, taking into account the specific genetic changes in their cancer cells.

What is Cancer Precision Medicine?

Cancer precision medicine is the use of genomic and other molecular information to tailor treatments to individual patients. Genomics is the study of the complete set of DNA (the genome) and its interactions with other molecules, such as RNA, proteins, and metabolites. By analyzing the genomes of tumors and comparing them to normal cells, we can identify the specific changes that drive cancer development and progression. These changes can also serve as biomarkers that can help detect cancer early, monitor its evolution, and select the most effective treatment for each patient.

Cancer precision medicine harnesses the intricacies of genomics and molecular information to revolutionize cancer care. By analyzing tumor genomes and understanding their interactions, we unlock the door to personalized treatments and improved patient outcomes.

But cancer precision medicine is not only about DNA. It also involves analyzing other types of molecules that interact with DNA, such as RNA, proteins and metabolites. These molecules can provide additional information about the function and regulation of genes, as well as the interactions between tumor cells and their environment. By integrating data from multiple sources, we can obtain a more comprehensive picture of tumor biology and diversity.

One of the emerging sources of molecular information is epigenomics, which is the study of the chemical modifications that affect gene expression without changing the DNA sequence. Epigenetic alterations play a key role in the initiation and progression of cancer, as they can affect genes involved in cell growth, differentiation, apoptosis, DNA repair, and immune response. Epigenetic marks can also serve as biomarkers for predictive and precision medicine in cancer, as they can reflect the environmental influences, such as diet, smoking, or infection, that may contribute to cancer risk or response to therapy.

Epigenomics sheds light on the chemical modifications that influence gene expression without altering the DNA sequence. These alterations hold crucial clues to cancer initiation and progression, serving as invaluable biomarkers for predictive and precision medicine.

How is Cancer Precision Medicine Applied?

Cancer precision medicine has several applications that can improve cancer care across different stages of the disease. Some of these applications are:

• Early Detection: Cancer precision medicine can help identify people who are at high risk of developing cancer-based on their genetic or epigenetic profiles. For example, people who carry mutations in BRCA1 or BRCA2 genes have an increased risk of developing breast or ovarian cancer. By screening these individuals with genetic tests or liquid biopsies, which can detect circulating tumor DNA (ctDNA) or cells (CTCs) in blood or other body fluids, we can diagnose cancer at an early stage when it is more treatable.
• Monitoring: Cancer precision medicine can help track the evolution and response of tumors over time by using molecular markers. For example, ctDNA or CTCs can be used to monitor tumor burden, recurrence, or resistance to therapy in patients with advanced cancers. By measuring these markers regularly, we can adjust the treatment accordingly or switch to alternative therapies if needed.
• Therapy Selection: Cancer precision medicine can help choose the best therapy for each patient based on their molecular profile. For example, some tumors have specific mutations or alterations in genes or proteins that make them more sensitive or resistant to certain drugs. By testing these biomarkers with molecular tests such as next-generation sequencing (NGS), immunohistochemistry (IHC), or fluorescence in situ hybridization (FISH), we can select the most effective and personalized therapy for each patient.
• Therapeutic Development: Cancer precision medicine can help discover new therapies based on genomic insights. For example, some tumors have specific vulnerabilities or dependencies on certain genes or pathways that can be exploited by novel drugs. By using technologies such as gene editing (e.g., CRISPR-Cas9), artificial intelligence (AI), or machine learning (ML), we can identify new targets or combinations for drug development.

What are the Technologies Driving Precision Medicine?

Cancer precision medicine relies on several technologies and tools that have improved significantly in recent years. These include:

• Next-generation sequencing (NGS), which enables fast and accurate analysis of large amounts of DNA or RNA from tumor samples. Companies such as Illumina , ThermoFisher Scientific , 凯杰 , 罗氏公司 , and others provide cancer genome sequencing platforms, kits, and services that enable NGS applications.
• Liquid biopsy, which allows non-invasive detection of circulating tumor DNA (ctDNA) or cells (CTCs) in blood or other body fluids. Companies such as Guardant Health , GRAIL , Natera , Foundation Medicine , Exosome Diagnostics, a Bio-Techne brand , and others offer liquid biopsy tests based on ctDNA analysis that can detect cancer mutations in early or advanced stages.
• Artificial intelligence (AI) and machine learning (ML) help interpret and integrate complex genomic data and generate insights and predictions. Companies such as Tempus , SomaLogic , Owkin , and Others provide multi-omics data analysis, integration, and solutions that help researchers understand the function and regulation of genes in tumors.
• Gene editing, which allows precise manipulation of DNA sequences in cells or organisms using tools such as CRISPR-Cas9. Companies such as Kite Pharma , bluebird bio , CRISPR Therapeutics , and others develop gene-editing or gene therapy products for cancer that can manipulate or correct defective genes in cells or tissues.

What are the Emerging Therapies Based on Precision Medicine?

Cancer precision medicine has enabled the development of novel therapies based on genomic insights, such as:

• Targeted therapy, which involves using drugs that specifically inhibit or activate genes or proteins that are altered in cancer cells. For example, drugs such as trastuzumab (Herceptin), osimertinib (Tagresso), vemurafenib (Zelboraf), olaparib (Lynparza), and selpercatinib (Retevmo) target tumors that have alterations in HER2, EGFR, BRAF, BRCA, and RET genes, respectively.
• Immunotherapy, which involves stimulating or modifying the immune system to recognize and attack cancer cells. For example, drugs such as ipilimumab (Yervoy), nivolumab (Opdivo), pembrolizumab (Keytruda), and atezolizumab (Tecentriq) block immune checkpoints that prevent the immune system from attacking cancer cells. Other immunotherapies include vaccines, cytokines, and adoptive cell transfer.
• Cell therapy involves using engineered cells, such as chimeric antigen receptor (CAR) T-cells, to target and kill cancer cells. For example, tisagenlecleucel (Kymriah) and axicabtagene ciloleucel (Yescarta) are CAR T-cell therapies approved for certain types of blood cancers.
• Combination therapy involves using two or more treatments that work synergistically to enhance efficacy and overcome resistance. For example, combining targeted therapy with immunotherapy can increase the response rate and survival of patients with melanoma, lung cancer, kidney cancer, and other cancers.

These therapies have shown remarkable results in some types of cancer, such as blood, melanoma, and lung cancer. However, there are still many challenges and limitations to overcome, such as:

• The cost and accessibility of genomic testing and analysis
• The variability and heterogeneity of tumors within and between individuals
• The lack of clinical evidence and guidelines for some genomic tests and therapies
• The ethical and legal issues related to data sharing and privacy
• The potential side effects and toxicity of some genomic therapies

How Can We Overcome These Challenges?

To address these challenges, there is a need for more research, collaboration, and innovation in the field of cancer precision medicine. Fortunately, many companies are working on these aspects and significantly contributing to the area. We want to acknowledge their efforts and achievements, and we look forward to seeing more breakthroughs in the future.

We also want to propose some possible solutions for these challenges that can be used as a call to action:

• Increasing the accessibility and affordability of genomic testing and analysis by reducing the cost, improving the quality, and expanding the coverage of genomic services
• Enhancing the diversity and representation of patients in genomic research and clinical trials by addressing the barriers, biases, and disparities that affect the participation and outcomes of racial and ethnic minorities, women, children, and other underserved groups
• Improving the clinical evidence and guidelines for genomic tests and therapies by conducting rigorous and robust studies to validate the clinical utility, effectiveness, and safety of genomic interventions and by developing standardized and harmonized frameworks to translate research findings into practice
• Resolving the ethical and legal issues related to data sharing and privacy by establishing clear and consistent policies and regulations to protect

Conclusion:

Cancer precision medicine is a promising field that has the potential to transform cancer care by using genomic and other molecular information to detect, monitor, select, and develop therapies for individual patients. However, many challenges and limitations must be addressed to make cancer precision medicine more accessible, effective, and safe. We hope this piece has provided some insights and inspiration on how cancer precision medicine is changing patients' lives like Chen's and how you can be part of this exciting journey. We encourage you to learn more about cancer precision medicine, get tested for your molecular profile, and join clinical trials or research studies that can help advance this field. Together, we can make cancer precision medicine a reality for everyone.