Genetic Screening and Testing for Comprehensive Cancer treatment

Genetically Screening Cancer cells in order to aid in the Effectiveness of Cancer Therapy
Ali Al-Mayahi Sayem Rahman
Grade 10

Problem

Cancer treatments aren't always a one-size-fits-all medication, leading to patients suffering and families going into debt for nothing. 

 

Cancer is one of the main causes of death. Despite this, most treatments are generalized rather than being tailored to individual patients. Traditional cancer treatments ignore key genetic components between patients. As a result, this leads to ineffective treatment, which results in severe side effects and financial hardship.
 

Does tailoring cancer treatment based on genetic testing improve patient outcomes compared to traditional one-size-fits-all therapies? By investigating how genetic testing can customize treatments, we aim to determine whether this approach is more effective, less harmful, and ultimately a better option for cancer patients.

Method

By looking at research, we can see the outcomes of this experiment and learn from it and adapt to the To explore this question, the project will adopt a structured research-based approach

1. Data Collection

Examine medical studies, clinical trials, and patient reports that assess genetic-based treatments in comparison to traditional therapies.

Collect statistics on survival rates, remission success, and side effects associated with both methods.

Investigate various screening techniques used to identify the genetic characteristics of tumors.

2. Screening & Genetic Profiling

Look into how tumors are screened for genetic mutations and biomarkers.

Pinpoint specific genes that influence cancer progression and response to treatment.

Investigate real-world scenarios where genetic screening has effectively informed cancer treatment decisions.

3. Comparative Analysis

Evaluate the outcomes of personalized treatments against traditional methods. Compare the effectiveness of targeted therapies by analyzing survival rates, tumor regression, and quality of life.

Review case studies of patients who received genetic-based treatment and compare their experiences to those who have had standard treatments.

 

Research

1. Types of Tumors & Genetic Profiling

Cancer isn’t just one disease it’s hundreds of different types, each with unique genetic mutations that determine how they grow and respond to treatment. Genetic profiling helps identify these mutations, making it easier to match patients with the right therapies. For example, BRCA1/2 mutations in breast and ovarian cancer make tumors more responsive to PARP inhibitors, while EGFR mutations in lung cancer indicate that targeted therapies like osimertinib will be more effective than chemotherapy. Genetic testing can also predict drug resistance, such as certain colorectal cancers developing resistance to standard treatments, making alternative therapies necessary. Understanding these genetic differences is key to improving treatment outcomes.

2. Screening Methods for Personalized Treatment

Genetic screening is changing the way cancer is diagnosed and treated. Instead of relying on traditional biopsies, newer techniques like liquid biopsies and circulating tumor DNA (ctDNA) tests allow doctors to detect cancer related mutations in the bloodstream, making early diagnosis and treatment adjustments much easier. Whole-genome sequencing (WGS) and next-generation sequencing (NGS) provide a complete genetic profile of a tumor, helping doctors determine the best treatment plan. Studies show that patients who undergo genetic screening early have better treatment responses and survival rates because their therapies are specifically tailored to their tumor’s unique characteristics.

3. Personalized Treatments vs. Traditional Therapy

Traditional cancer treatments like chemotherapy and radiation follow a general approach, but personalized medicine is proving to be far more effective. Studies show that targeted therapies based on genetic testing improve survival rates while reducing unnecessary side effects. For instance, the 70-gene signature test for breast cancer helped cut down on unnecessary chemotherapy by nearly 50%, ensuring patients only received treatment when necessary. Personalized medicine is also helping lower relapse rates ctDNA testing in colorectal cancer allows doctors to overview treatment response in real time, making adjustments before the disease gets worse. However, challenges remain, such as the high cost of genetic testing and targeted therapies, as well as ethical concerns about accessibility. Despite this, precision medicine continues to prove that matching treatments to a patient’s unique genetic profile leads to better results and fewer risks compared to traditional methods.


 

Data

Research shows that tailoring cancer treatments with genetic testing is way more effective than using the same treatment for everyone. By analyzing a patient’s genes, doctors can figure out exactly what medications will work, cutting down on unnecessary treatments and making sure patients aren’t suffering (or paying) for nothing. Studies on gastric, melanoma, and ovarian cancer all prove that different genetic factors affect how tumors grow and respond to treatment. For example, ovarian tumors with BRCA1/2 (Breast Cancer Gene 1 and 2) mutations respond better to PARP (Poly ADP-Ribose Polymerase) inhibitors, and a 70-gene test for breast cancer reduced unnecessary chemotherapy by 46%. Whole-genome sequencing (WGS) has helped extend survival in 30% of cases, and tracking circulating tumor DNA (ctDNA) in colorectal cancer made treatments way more accurate while lowering the chance to get worse. ctDNA testing is also changing the game for monitoring treatment response, catching tiny amounts of remaining cancer and letting doctors adjust therapy in real time. At the end of the day, personalizing cancer treatment actually works better survival odds, less side effects, and less of wasting money on treatments that are less effective.

 

Conclusion

Genetic based cancer treatments are proving to be much more effective than traditional therapies that take a one-size-fits-all approach, as they specifically target the mutations that fuel cancer growth. Personalized medicine results in fewer side effects because treatments are customized for each individual instead of applying a general method. With the help of advanced screening techniques, identifying the most suitable treatment has become easier than ever, leading to improved survival rates and enhanced quality of life. Although genetic based treatments are still in development, they hold the promise of transforming cancer care and potentially becoming the standard method in the future.

 

Citations

Riedl, Jakob M, et al. “Molecular Diagnostics Tailoring Personalized Cancer Therapy-an Oncologist’s View.” Virchows Archiv : An International Journal of Pathology, U.S. National Library of Medicine, Feb. 2024, pmc.ncbi.nlm.nih.gov/articles/PMC10948510/.

Canadian Cancer Society / Société canadienne du cancer. “Precision Medicine.” Canadian Cancer Society, cancer.ca/en/research/understanding-cancer-research/precision-medicine . Accessed 4 Feb. 2025. 

Cancer Genome Atlas Research Network. “Comprehensive Molecular Characterization of Gastric Adenocarcinoma.” Nature, U.S. National Library of Medicine, 11 Sept. 2014, pmc.ncbi.nlm.nih.gov/articles/PMC4170219/

“Integrated Genomic Analyses of Ovarian Carcinoma.” Nature News, Nature Publishing Group, 29 June 2011, www.nature.com/articles/nature10166

Genomic Classification of Cutaneous Melanoma: Cell, www.cell.com/cell/fulltext/S0092-8674(15)00634-0 . Accessed 24 Feb. 2025.

DiNardo, Courtney D, and Jorge E Cortes. “Mutations in AML: Prognostic and Therapeutic Implications.” Hematology. American Society of Hematology. Education Program, U.S. National Library of Medicine, 2 Dec. 2016, pmc.ncbi.nlm.nih.gov/articles/PMC6142505/

“Comprehensive Molecular Portraits of Human Breast Tumours.” Nature News, Nature Publishing Group, 23 Sept. 2012, www.nature.com/articles/nature11412

Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma | Nejm, www.nejm.org/doi/full/10.1056/NEJMoa1505917.  Accessed 26 Feb. 2025. 

Cancer Genome Atlas Research Network. “Comprehensive Molecular Characterization of Urothelial Bladder Carcinoma.” Nature, U.S. National Library of Medicine, 20 Mar. 2014, pmc.ncbi.nlm.nih.gov/articles/PMC3962515/

Sheffield, B S, et al. “Personalized Oncogenomics in the Management of Gastrointestinal Carcinomas-Early Experiences from a Pilot Study.” Current Oncology (Toronto, Ont.), U.S. National Library of Medicine, Dec. 2016, pmc.ncbi.nlm.nih.gov/articles/PMC5176383/

Cardoso F;van’t Veer LJ;Bogaerts J;Slaets L;Viale G;Delaloge S;Pierga JY;Brain E;Causeret S;DeLorenzi M;Glas AM;Golfinopoulos V;Goulioti T;Knox S;Matos E;Meulemans B;Neijenhuis PA;Nitz U;Passalacqua R;Ravdin P;Rubio IT;Saghatchian M;Smilde TJ;Sotiriou  C;S. “70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer.” The New England Journal of Medicine, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/27557300/.  Accessed 25 Feb. 2025. 

van ’t Veer, Laura J., et al. “Gene Expression Profiling Predicts Clinical Outcome of Breast Cancer.” Nature News, Nature Publishing Group, www.nature.com/articles/415530a.  Accessed 23 Feb. 2025.

Openshaw, Mark R., and Terri P. McVeigh. “Non-Invasive Technology Advances in Cancer-a Review of the Advances in the Liquid Biopsy for Endometrial and Ovarian Cancers.” Frontiers, Frontiers, 19 Nov. 2020, www.frontiersin.org/journals/digital-health/articles/10.3389/fdgth.2020.573010/full

User, Guest. “Understanding MRD in Solid Tumors.” BLOODPAC, BLOODPAC, 21 June 2023, www.bloodpac.org/bloodpac-blog/mrd-solid-tumors

Kasi PM;Sawyer S;Guilford J;Munro M;Ellers S;Wulff J;Hook N;Krinshpun S;Koyen Malashevich A;Malhotra M;Rodriguez A;Moshkevich S;Grothey A;Kopetz S;Billings P;Aleshin A; “Bespoke Study Protocol: A Multicentre, Prospective Observational Study to Evaluate the Impact of Circulating Tumour DNA Guided Therapy on Patients with Colorectal Cancer.” BMJ Open, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/34561256/.  Accessed 26 Feb. 2025. 

 Weinberg, Benjamin A, et al. “Early Detection of Circulating Tumor DNA Postoperatively Enables Discovery of Resectable Metastatic Disease in a Patient with Colon Cancer.” Case Reports in Oncology, U.S. National Library of Medicine, 10 Dec. 2021, pmc.ncbi.nlm.nih.gov/articles/PMC8739946/

Exploratory Study of Artificial Intelligence in Healthcare, media.neliti.com/media/publications/429277-exploratory-study-of-artificial-intellig-f2137466.pdf.  Accessed 28 Feb. 2025. 

Ferrara, Alfonso, et al. “Dendritic Cell-Based Tumor Vaccine for Cervical Cancer II: Results of a Clinical Pilot Study in 15 Individual Patients - Journal of Cancer Research and Clinical Oncology.” SpringerLink, Springer-Verlag, 30 July 2003, link.springer.com/article/10.1007/s00432-003-0463-5

Revolutionizing Cancer Treatment: Unleashing the Power Of ..., pubs.acs.org/doi/full/10.1021/acsomega.3c06501.  Accessed 24 Feb. 2025. 

Kasi, Pashtoon Murtaza, et al. “Circulating Tumor DNA (Ctdna) Serial Analysis during Progression on PD-1 Blockade and Later CTLA-4 Rescue in Patients with Mismatch Repair Deficient Metastatic Colorectal Cancer.” Journal for Immunotherapy of Cancer, U.S. National Library of Medicine, Jan. 2022, pmc.ncbi.nlm.nih.gov/articles/PMC8804692/.  

 

Acknowledgement

Researchers and institutions that have contributed to the field of precision oncology.

Scientists working on cutting-edge genetic screening technologies.

Family, teachers, and mentors for their guidance and support.

 

Attachments

No Log Book Provided