US
IN
By MedGenome Scientific Affairs
National Cancer Prevention Month is observed in the month of February every year, with an objective to raise awareness and promote initiatives to prevent cancer. Cancer ranks as the second leading cause of death in the United States (US). Despite government-led cancer education initiatives, the battle against this disease remains complex, with variations in cancer risk persisting among different ethnic groups due to genetic predispositions and disparities in healthcare access. The incidence of different cancer types varies among population groups, influencing cancer rates within diverse demographics, often associated with genetic factors.
Table 1: Cancer type and rates by ethnic groups2,3
| Ethnic group | Cancer incidence rate |
|---|---|
| Hispanic/Latino and Black/African American women | Higher incidence rate of cervical cancer |
| American Indians/Alaska Natives | Higher death rate by kidney cancer |
| American Indians/Alaska Natives | Highest rates of liver and intrahepatic bile duct cancer |
| African-American Males | Highest incidence rate of lung and prostate cancer |
| White, non-Hispanic | Highest incidence rate of breast cancer |
| Ashkenazi Jewish Women | Higher risk of breast cancer |
Cancer prevention and screening
Studies have indicated that nearly 50% of cancer deaths could be prevented through healthier lifestyles and addressing key risk factors. Some of these risk factors include tobacco use, alcohol intake, poor diet, lack of physical activity, obesity, infections with cancer-related pathogens (such as Human Papilloma Virus (HPV) and Hepatitis B Virus (HBV)), and exposure to ultraviolet radiation. In the US, about four out of ten new cancer cases are linked to preventable causes.
The primary objective of cancer screening is to detect cancer at an early stage or even before symptoms develop, aiming to improve treatment outcomes and reduce mortality rates. The United States Preventive Services Task Force (USPSTF) has provided evidence-based recommendations for conducting screening tests for individuals at average or higher-than-average risk of developing cancer. These recommendations are formulated after carefully evaluating the advantages and potential drawbacks of different strategies for disease prevention, such as cancer screening tests, genetic testing, and preventive treatments.
Some of the screening tests recommended include digital mammography and digital breast tomosynthesis for breast cancer, pap smear and HPV test for cervical cancer, stool-based tests and direct visualization tests (such as flexible sigmoidoscopy, colonoscopy, or computer tomography colonography) for colorectal cancer, low-dose spiral CT scan for lung cancer, and prostate-specific antigen (PSA) test for prostate cancer.
Understanding the healthcare implications of cancer genomics
Cancer genomics stands at the forefront of medical research due to its ability to provide unique insights into the genetic makeup of cancerous cells and tumors. This in-depth understanding facilitates various advancements in cancer diagnosis, treatment, and prevention:
- Variant detections: Genetic variants and mutations within cells are the primary cause of cancer or tumor development. Identification of such novel variants can aid in monitoring tumor progression and develop treatment strategies tailored to individual needs. These variants encompass a range of alterations, including single nucleotide substitutions, insertions, deletions, copy number alterations, and other structural rearrangements.
- Biomarker discovery: Genomic techniques help to identify various cancer-causing molecular indicators. It allows to understand the various gene expression patterns implicated in cancer thus guiding clinical decision-making, predicting patient outcomes, and monitoring treatment effectiveness.
Eg: BRCA1 and BRCA2 mutations in breast cancer, EGFR Mutations in Non-small cell lung cancer, KRAS Mutations in colorectal cancer, BRAF V600E mutation in melanoma, Microsatellite Instability (MSI) in Lynch syndrome, and PD-L1 expression in immunotherapy. - Personalized medicine: Genomics assists in pinpointing specific population cohorts susceptible to cancer types and can even furnish a comprehensive genomic portrait of individuals, expediting treatment and facilitating the delivery of effective therapies for favorable results. Some of the common cancers where precision medicine can be very useful are colorectal cancer, breast cancer, lung cancer, leukemia, lymphoma, melanoma, esophageal cancer, stomach cancer, ovarian cancer and thyroid cancer5.
- Targeted therapies: Cancer genomics aids in zeroing in on those genetic mutations within individual tumors and the pathways that propel cancer progression, thereby identifying precise therapeutic targets for effective treatments. Examples of targeted therapies include: Selective BRAF inhibitor vemurafenib for BRAF mutant melanoma, Imatinib and nilotinib targeting the BCR-ABL protein, Erlotinib targeting epidermal growth factor receptor (EGFR), Trastuzumab targeting HER2 cell signaling protein, lapatinib for breast cancer, crizotinib for lung cancer, bevacizumab for lung and colon cancer; and sorafenib for liver and kidney cancer etc6.
- Immunotherapy: Analyzing the genomic profiles of cancer and immune cells sheds light on their diverse interactions within the tumor microenvironment. This insight aids in understanding how cancer cells evade immune detection and informs the development of targeted immunotherapies. Neoantigens, identified through prediction algorithms, are emerging as crucial players in cancer immunotherapy. They are unique molecules found on the surface of cancer cells due to tumor mutations. Neoantigens activate the immune system, enabling it to selectively attack cancer cells. Harnessing this knowledge is critical in designing effective cancer immunotherapies, such as immune checkpoint inhibitors and cancer vaccines.
Table 2: List of different types of immunotherapy along with examples
| Type of Immunotherapy | Example |
|---|---|
| Immune Checkpoint Inhibitors (ICIs) | Pembrolizumab (Keytruda), Nivolumab (Opdivo), Ipilimumab (Yervoy) |
| Chimeric Antigen Receptor (CAR) T-cell Therapy | Tisagenlecleucel (Kymriah), Axicabtagene ciloleucel (Yescarta) |
| Cytokine Therapy | Interferon-alpha, Interleukin-2 |
| Cancer Vaccines | Sipuleucel-T (Provenge), HPV vaccines (Gardasil, Cervarix) |
| Monoclonal Antibodies | Rituximab (Rituxan), Trastuzumab (Herceptin) |
| Oncolytic Virus Therapy | Talimogene laherparepvec (T-VEC or Imlygic) |
Next generation sequencing and cancer genomics
Next-generation sequencing (NGS) has transformed cancer detection and treatment by offering extensive genomic profiles across diverse cancer types. This innovative technology allows for the sequencing of entire genomes, exomes, transcriptomes, or specific genes, thereby facilitating a deeper understanding of cancer genomics. Furthermore, NGS offers several advantages, including the ability to tailor treatment plans to individuals, predict disease outcomes, and identify individuals at higher risk.
Conclusions
Exploring cancer genomics deepens our understanding of the molecular underpinnings of cancer, including its origins, progression, and resistance to therapy. This insight propels continuous investigation into the intricate facets of cancer biology, driving the development of novel approaches for both preventing and treating the disease.
MedGenome offers a cutting-edge genomics-based approach to analyze the tumor microenvironment with unique insights beyond IHC and FACS methods. OncoPeptTUMETM deeply interrogates RNA-Sequencing data sets to produce high resolution mapping of the tumor microenvironment using proprietary cell type specific gene expression signatures. Also, we provide comprehensive genomic profiling of tumor samples using TruSight Oncology 500 (TSO-500) assay, with 523 cancer-related gene variants and 55 RNA variants, this panel provides extensive coverage of biomarkers frequently found in various cancer types. Additionally, our scientific team excels in addressing challenging sample processing scenarios and managing high-throughput sample workflows, ensuring accurate and efficient analysis of cancer genomic data.
References
-
- Siegel RL, Giaquinto AN, Jemal A. Cancer statistics, 2024. CA Cancer J Clin. 74(1):12-49.
- https://www.10xgenomics.com/products/single-cell-gene-expression-flexhttps://www.cancer.gov/about-cancer/understanding/disparities#:~:text=Black%2FAfrican%20American%20people%20have,to%20die%20of%20the%20disease
- https://sgccri.org/are-race-ethnicity-risk-factors-for-cancer/#:~:text=Several%20epidemiological%20studies%20have%20confirmed,by%20Caucasians%20and%20Asian%20Americans
- https://cancerprogressreport.aacr.org/progress/cpr22-contents/cpr22-screening-for-early-detection/
- https://www.cancer.org/cancer/managing-cancer/treatment-types/precision-medicine.html
- https://www.pennmedicine.org/cancer/navigating-cancer-care/treatment-types/immunotherapy/targeted-therapy#:~:text=Other%20examples%20of%20targeted%20therapies,for%20liver%20and%20kidney%20cancer.
#Cancer genomics, #Cancer Prevention, #Next-generation sequencing, #Whole genome, #Whole exome, #Whole transcriptome, #RNA Sequencing, #TSO-500, #TruSight Oncology, #Tumor microenvironment, #Gene expression, #Biomarker discovery, #Personalized medicine, #Targeted therapies, #Immunotherapy
