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  • Writer's pictureZalli Foundation

The Cancer Genome: Advancing Precision Medicine through Personalized Treatment

1.1 The Cancer Genome

The cancer genome refers to the complete set of genetic material within a cancer cell. Changes in the DNA of cancer cells, including mutations and genetic alterations, are fundamental drivers of cancer development and progression. These changes can affect key cellular processes, such as cell growth, division and repair, leading to uncontrolled growth and the formation of tumours. Studying these DNA changes is essential to advancing our understanding of cancer and developing more effective treatments. Studying the cancer genome helps researchers understand the genetic basis of cancer and develop targeted treatments.

Figure 1. Combining genomic data can help determine which treatments are most effective for specific genetic abnormalities. Image source: [BC Cancer Genome Sciences Centre]

The genetic basis of cancer refers to the role of genetic changes, such as mutations and changes in DNA, that drive the development and progression of cancer. These changes can affect genes involved in growth, division, DNA repair, and other critical cellular processes. Some genetic changes are inherited, while others occur during a person's lifetime due to factors such as exposure to carcinogens or errors in DNA replication. Understanding the genetic basis of cancer helps researchers identify potential therapeutic targets and develop personalized treatments for patients.

Personalized treatments for cancer patients involve tailoring medical approaches to an individual's specific genetic, molecular, and clinical characteristics. This approach is also known as precision medicine. By analyzing the DNA of a patient's tumour, researchers can identify specific genetic mutations or changes that are causing cancer. This information helps doctors choose treatments that target those specific genetic abnormalities, increasing the chances of success while minimizing side effects.

Personalized treatments may include targeted therapies that block the activity of mutated proteins, immunotherapies that enhance the body's immune response against cancer cells, and other specialized treatments based on the patient's unique genetic profile. This approach has the potential to improve treatment outcomes and reduce the likelihood of ineffective therapies.

1.2 Treatment

Determining the most effective treatment approach based on a patient's cancer genome involves a complex process known as precision medicine. Different approaches can be used to analyze the genome and guide treatment decisions:

1. Genomic sequencing: Whole genome or whole exome sequencing can

identify mutations and changes in the cancer genome, helping to pinpoint

specific genetic changes that can be targeted by existing drugs or experimental therapies.

2. Gene Expression Profiling: Techniques such as RNA sequencing can measure

levels of gene activity in a tumour, revealing insights into the biological pathways

that are active and suggest possible treatment options.

3. Mutation analysis: Identification of driver mutations and

mutations associated with drug resistance can guide treatment decisions, as some drugs are designed to target specific mutations.

4. Pathway Analysis: Understanding the signalling

pathways involved in cancer growth and spread may suggest targeted therapies that disrupt these pathways.

5. Immunogenomics: Analyzing a tumour's genetic makeup can help determine whether a patient may respond well to immunotherapies that boost the body's immune response against cancer.

6. Comparative analysis: Comparison of the tumour genome with the genome of the patient's healthy tissues can highlight specific mutations unique to the cancer, helping to identify therapeutic targets.

7. Drug Sensitivity Testing: In vitro, testing of tumour cells against a panel of drugs can help predict which treatments are likely to be most effective for a given patient's cancer.

8. Clinical Trials and Literature Review: Comprehensive databases and clinical trial databases can help identify ongoing trials testing therapies targeted to specific mutations or pathways.

9. Data Integration: Combining genomic data with clinical information can lead to more personalized treatment recommendations.

It is important to note that while genomic analysis can provide valuable insights,

clinical judgment and consultation with healthcare professionals are essential for

making informed treatment decisions. Additionally, research and advances in the field continue to refine our understanding of which approaches are most effective for different types of cancer and genetic profiles.

1.3 Data privacy

Protecting data privacy is a critical consideration when dealing with sensitive information such as genomic data, especially in the context of healthcare and genomic research. Here are some key aspects of data privacy protection:

1. Informed Consent: Patients or participants must provide informed consent before their genomic data is collected, analyzed and shared. They need to understand how their data will be used and who will have access to it.

2. Anonymization and de-identification: Personal identifiers should be removed or scrambled to prevent easy identification of individuals from their genomic data. This helps protect patient privacy while still enabling research.

3. Data encryption: Genomic data must be stored and transmitted using encryption methods to prevent unauthorized access during storage and transmission.

4. Access Controls: Limiting access to genomic data to authorized personnel only is essential. This includes implementing strict authentication and authorization mechanisms.

5. Secure Storage: Genomic data should be stored in secure environments with appropriate physical and digital safeguards to prevent breaches.

6. Data Sharing Agreements: When sharing genomic data with researchers or other organizations, formal agreements should be in place to ensure that the data are used only for approved purposes and that privacy is maintained.

7. HIPAA Compliance (for US): In the United States, the Health Insurance Portability and

Accountability Act (HIPAA) sets standards for protecting sensitive patient data, including genomic information.

8. GDPR Compliance (for EU): In the European Union, the General Data Protection

Regulation (GDPR) outlines requirements for the protection of personal data, including genomic data.

9. Ethical ReviewBoards: Research involving genomic data often requires review

and approval by ethics committees or institutional review boards to ensure that patient privacy is protected.

10. Data Breach Response Plan: Organizations must have a plan to respond to data

breaches promptly and effectively, including notifying affected individuals and authorities if required.

11. Data Retention Policies: Clear policies should dictate how long genomic data

will be retained and when it must be securely destroyed.

12. Patient Empowerment: Patients should have control over their genomic data, including

the ability to access, correct and delete their information if they wish.

Balancing the potential benefits of genomic research with the need to protect data privacy

is a complex challenge. Governments, regulatory bodies, research institutions and healthcare

providers collaborate to develop and enforce regulations and standards that ensure scientific progress and patient privacy.

The cost of sequencing a cancer genome can vary greatly depending on the technology

used and the area of ​​analysis. This can range from a few hundred dollars to a few thousand

dollars per genome. However, prices in the field of genomics are constantly evolving.

This article is written by Dr. Aurela Ramaj, Lecturer at We Speak Science.


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