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Updated: Nov 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
My mission is possible: discussing ethical concerns about genomics and precision medicine
1Medical Oncology Unit, Sant'Andrea Hospital of Rome.
Abstract:
Although there is considerable evidence that precision anticancer drugs may be more effective than "one size fits all" approach, doubts persist about their cost, availability, and overall benefit for patients. With increasing frequency, patients with metastatic malignancies are undergoing next-generation sequencing (NGS) procedures to determine if there is a viable mutation that could guide their first or next line of treatment. However, this could be prohibitive for many disadvantaged patients. Furthermore, efficacy studies are often structured around surrogate endpoints of dubious long-term predictive validity. Moreover, it is necessary to add that it is often a therapy with significant toxicities, especially in over-treated patients. There is no doubt that precision medicine represents the near future of medical oncology, however, questions need to be asked, out of the spotlight and much closer to our patients.
Insights
Precision medicine offers targeted cancer treatments, but cost and accessibility remain barriers for many patients. Further research is needed to ensure equitable access and validate long-term benefits of these advanced therapies.
Area of Science:
- Medical Oncology
- Genomics
- Translational Research
Background:
- Precision anticancer drugs show promise over traditional approaches.
- Next-generation sequencing (NGS) is increasingly used to guide cancer treatment.
- Concerns exist regarding the cost, accessibility, and true benefit of precision medicine.
Purpose of the Study:
- To critically evaluate the current landscape of precision medicine in oncology.
- To address the challenges and limitations of precision medicine for patients.
- To emphasize the need for patient-centered considerations in precision oncology.
Main Methods:
- Review of current evidence on precision medicine efficacy and limitations.
- Analysis of the role of next-generation sequencing (NGS) in clinical practice.
- Discussion of cost-effectiveness, accessibility, and toxicity of targeted therapies.
Main Results:
- Precision medicine offers personalized treatment strategies based on molecular profiling.
- Significant barriers include high costs, limited availability, and potential toxicities.
- Efficacy studies often rely on surrogate endpoints with uncertain long-term predictive value.
Conclusions:
- Precision medicine is the future of oncology but faces practical and ethical challenges.
- Equitable access and patient-centered outcomes must be prioritized.
- Further investigation is required to fully realize the potential of precision oncology for all patients.
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