Case Study: Personalized Medicine Based on Genetic Profiling in Oncology

Abstract

The trend for individualized medicine in oncology, fueled primarily by genetic analysis, is revolutionizing cancer treatment. This case report focuses on the clinical route of a 55-year-old lady who was diagnosed with advanced non-small cell lung cancer (NSCLC). The genetic profile results revealed a mutation in the epidermal growth factor receptor (EGFR), allowing for targeted therapy with tyrosine kinase inhibitors. This study demonstrates that tailored medicine produces patient-oriented treatment alternatives that increase results while decreasing the negative effects associated with standard chemotherapy. Her therapy enables us to explore how genetic profiling has transformed oncology and the patient journey.

Introduction

For many years, cancer treatment has followed a single approach, using treatments like radiation and chemotherapy widely and often with inconsistent outcomes. Precision medicine, especially genetic profiling, has enabled oncology to enter a new era of tailored treatments that target specific molecular alterations in cancers. Important mutations or alterations in the tumor gene sequence are revealed by genetic profiling, which aids in the creation of specialized medical treatments. This process is crucial for malignancies that have known mutations that may be sensitive to specific treatments, such as colorectal, lung, and breast cancers.

The case study demonstrates the significant potential of genetic profiling-based personalized medicine to improve the prognosis of cancer patients by highlighting a patient with non-small cell lung cancer (NSCLC) who benefited from it.

Patient Information

• Age: 55 years old
• Gender: Female
• Medical History: Before being diagnosed with cancer, the patient had no relevant medical history. She does not smoke, but her family history includes lung cancer (her mother was diagnosed at age 62).
• Symptoms: She had a persistent cough, weight loss, and weariness for the past three months.
• Initial Diagnosis: Imaging detected a tumor in the left lung, and a biopsy confirmed stage IV non-small cell lung cancer (NSCLC).

Clinical Findings

A CT scan found a 5 cm cancerous mass in the upper lobe of the left lung, involving mediastinal lymph nodes and presenting with small metastases in the liver. Confirming NSCLC, adenocarcinoma subtype, a biopsy assessed the pathology. Considering the advanced condition of the illness, the oncologist proposed genetic profiling to recognize prospective molecular targets for the therapy.

Timeline

Initial Consultation and Diagnosis

• Date: April 10, 2023
• Findings: Persistent cough and weight loss; imaging revealed a left lung mass.
• Procedure: Biopsy performed, confirming NSCLC (stage IV adenocarcinoma).

Genetic Profiling

• Date: April 25, 2023
• Method: Tumor biopsy underwent next-generation sequencing (NGS) for genetic profiling.
• Results: Identified an activating mutation in the EGFR gene (Exon 19 deletion), making the patient a candidate for targeted therapy with tyrosine kinase inhibitors (TKIs).

Initiation of Targeted Therapy

• Date: May 5, 2023
• Treatment: Osimertinib, an EGFR TKI, was initiated as first-line therapy for EGFR-mutant NSCLC.

Follow-Up Scan

• Date: July 15, 2023
• Findings: Significant reduction in tumor size and no new metastases observed.

Ongoing Monitoring

• Date: Quarterly follow-ups with imaging and blood tests to monitor for progression or resistance development.

Diagnostic Assessment

Histopathology

The sample confirmed NSCLC, an adenocarcinoma subtype that is frequent among nonsmokers.

Genetic Profiling

Tumor DNA underwent next-generation sequencing (NGS), which revealed an EGFR exon 19 deletion mutation. This mutation is a well-known cause of NSCLC and increases sensitivity to EGFR-targeted treatments, particularly TKIs.

Follow-Up and Outcomes

After beginning targeted therapy utilizing osimertinib, the patient performed exceptionally well. The scans done with a CT scan at the three-month time frame after treatment showed that tumor volume decreased by 60%, and the patient enjoyed improved symptoms including better breathing, a reduction in fatigue, and added weight.

Short-Term Outcome: Tumor shrinkage and better quality of life that comes with easily manageable side effects (mild rash and diarrhea, which responded well to supportive treatments).

Long-Term Outcome: The patient is still on osimertinib without any signs of disease progression at her six-month check-up. Future observation involves regular imaging to check for resistance mutations that might lead to an alteration in therapy if it becomes necessary.

Discussion

Genetic profiling is now a fundamental aspect of personalized medicine, which is leading modern oncology. A genetic test uncovering an EGFR mutation in this situation made it feasible to administer a targeted therapy (osimertinib) in place of traditional chemotherapy. In particular, the patient's exon 19 mutation responded favorably to EGFR TKIs, particularly for nonsmokers with lung cancer.

Advantages of Genetic Profiling

• Targeted Approach: Unlike chemotherapy, which kills all rapidly proliferating cells, tailored medicines such as osimertinib suppress cancer cell proliferation caused by EGFR mutations.
• Fewer Side Effects: Targeted therapies often result in fewer severe side effects compared to standard chemotherapy. This patient encountered modest, tolerable side effects, such as skin rash and diarrhea, which decreased with treatment.
• Improved Efficacy: In this instance, the patient's quality of life was improved and a better prognosis was provided than with traditional therapies due to the targeted therapy's substantial tumor shrinking.

Challenges

• Cost: Targeted therapies are expensive, and access to them may be limited depending on healthcare systems and insurance coverage.
• Resistance: Over time, patients may acquire resistance to targeted medicines, needing additional genetic screening to uncover new mutations and guide future therapy options.
• Access to Genetic Testing: Due to expenses, a lack of infrastructure, or a lack of experience, genetic profiling is still uncommon in many regions of the world, which hinders the broad implementation of customized therapy.

Takeaway

This situation points to the impact of personalized medicine in oncology for patients who have particular genetic mutations, such as EGFR in NSCLC. Genetic profiling enables targeted therapies that greatly boost patient results, lowering tumor size, lessening symptoms, and raising overall survival. As genetic testing grows increasingly affordable and accessible, it will boost the opportunity to revolutionize cancer treatment with precision oncology.

Nevertheless, we face enduring problems, the expensive nature of targeted therapies, the increase in resistance with time, and the important requirement for worldwide availability of genetic testing. The case demonstrates the important role of sustained research, teamwork spread across healthcare institutions and pharmaceutical firms, and the urgent need to expand personalized cancer care for every patient.

Patient’s Perspective

With the use of targeted therapy, the cancer treatment journey grew more feasible for the patient. Due to genetic profiling, the patient communicated feelings of relief and hope, which eliminated the requirement for intensive chemotherapy. The patient was able to keep a higher quality of life because of the limited side effects during treatment. She emphasizes the important requirement for personalized care and reveals the psychological gains of discovering that the treatment design matches her tumor's genetic structure.

The patient understood the financial barriers linked with therapy and was fortunate because insurance covered the genetic testing and the targeted treatment. She stressed the critical necessity for expanded access to genetic profiling, as she thinks a greater number of patients should receive personalized care.

Conclusion

Personalized medicine based on genetic profiling is a paradigm change in oncology, providing new hope to patients with genetic abnormalities such as EGFR. This case study shows how targeted medicines can significantly enhance outcomes, reduce side effects, and provide a more personalized approach to cancer treatment. Despite this promise, issues such as cost, availability of genetic testing, and treatment resistance must be addressed. Moving forward, incorporating genetic profiling into routine clinical practice will be critical to making precision oncology the standard of care worldwide.

References

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