2024-09-12 14:24:30
September 12, 2024
In cancer, genetic testing is the key to precision medicine. It involves looking for the presence of specific variations in DNA within the tumor itself, thus opening the way to targeted, more effective treatments, limiting therapeutic wandering and increasing the chances of recovery. However, their funding, and therefore access for all patients to these innovations, is uncertain. Patients and caregivers are mobilizing within the Testing collective.
Table of Contents
- 1 In cancer, genetic testing is the key to precision medicine. It involves looking for the presence of specific variations in DNA within the tumor itself, thus opening the way to targeted, more effective treatments, limiting therapeutic wandering and increasing the chances of recovery. However, their funding, and therefore access for all patients to these innovations, is uncertain. Patients and caregivers are mobilizing within the Testing collective.
- 2 “Genetic testing”, a condition for precision medicine
- 3 Precision medicine, an example
- 4 Testimony of Patrick, member of My Lung Cancer Network (Brive-la-Gaillarde, Corrèze)
- 5 How is genetic testing for cancer done
- 6 Examples of precision medicine in cancer
Table of Contents
- 1 In cancer, genetic testing is the key to precision medicine. It involves looking for the presence of specific variations in DNA within the tumor itself, thus opening the way to targeted, more effective treatments, limiting therapeutic wandering and increasing the chances of recovery. However, their funding, and therefore access for all patients to these innovations, is uncertain. Patients and caregivers are mobilizing within the Testing collective.
- 2 “Genetic testing”, a condition for precision medicine
- 3 Precision medicine, an example
- 4 Testimony of Patrick, member of My Lung Cancer Network (Brive-la-Gaillarde, Corrèze)
- 5 How is genetic testing for cancer done
Without genetic tests in oncology to detect the presence of specific mutations (EGFR, BRCA, HRD, etc.) from the time of diagnosis or when metastases are discovered, there is no individualized therapeutic approach or optimization of care, which are nevertheless the conditions for increasing the life expectancy of patients.
These innovative tests are particularly reliable and effective for certain cancers by detecting the presence of a particular genetic mutation; this is particularly true for breast, ovarian, lung, prostate, colon cancers, as well as for rare cancers and leukemias. However, despite the proven evidence of their usefulness and the chances of survival allowed by the innovative therapies to which they provide access, some establishments can no longer or will soon no longer be able to offer them to patients, for financial reasons in particular. A risk denounced by a group of leading caregivers, alongside patients.
“Genetic testing”, a condition for precision medicine
« Access to these genomic tests, the cornerstone of precision medicine in cancer, remains limited by an inadequate evaluation and financing framework.explains Laure Guéroult-Accolas, founder and director of Patients en réseau and member of the Testing collective. Some non-profit establishments in France (public hospitals – Cancer treatment centers) will soon no longer be able to offer these tests to patients affected by cancer, for administrative and financial reasons. »
The High Authority for Health (HAS), for example, has just issued its favorable opinion on the coverage under ordinary law of “lung” panels, which are tests including EGFR, ALK, ROS1, BRAF, RET and KRAS alterations. However, there is no mechanism to consider coverage under “ordinary law” for these tests carried out as part of a hospitalization in the public sector. This situation creates a double frustration: for the patient, with an inconceivable loss of opportunity, and for the doctor, who finds himself deprived of an essential tool for treatment, or even to hope for the patient’s survival.
Forced to finance these tests from their own funds, the least well-funded hospitals will no longer be able to offer them to patients.
Precision medicine, an example
« Patients have been eagerly awaiting the arrival of promising treatments such as PARP inhibitors, intended for breast, ovarian, pancreatic and, more recently, prostate cancers.the illustrious Laure Guéroult-Accolas. These targeted therapies are almost exclusively reserved for patients with a mutation in the BRCA genes, involved in DNA repair. With the HRD test, twice as many patients affected by advanced cancers (breast, ovarian) could access PARP inhibitors. The lack of access to tests to diagnose these mutations therefore amounts to depriving patients of these innovative treatments. Large public hospitals may find financing solutions, but smaller ones will never be able to afford to finance these tests, which will create inequity in access to precision medicine. The future lies in characterizing the disease using these molecular tests, making it possible to offer targeted therapies. This changes everything, both in terms of survival and quality of life and care pathways. Some patients who were doing poorly regain an almost normal quality of life, some even return to work, which is sometimes quite spectacular.. »
For the Testing collective – a collective of experts, bringing together directors of health establishments, patient associations, oncologists, geneticists and pathologists – an appropriate financing solution must be designed for access to diagnosis and the innovative treatments that result from it. It recommends the establishment of additional packages for these establishments.
Testimony of Patrick, member of My Lung Cancer Network (Brive-la-Gaillarde, Corrèze)
« My lung cancer was detected in early November 2023, even though I am a non-smoker. The various blood and radiological tests revealed a multi-metastatic bronchopulmonary adenocarcinoma. At that stage, the doctors were not optimistic. Then, the results of my lung biopsy revealed an EGFR-type genetic mutation, which made me eligible for targeted therapy: a big relief. This targeted therapy replaced conventional chemotherapy and radiotherapy. Of course, there were side effects, but the scan last March showed the almost complete disappearance of my two lung tumors as well as my multiple metastases. Incredible… Even the oncologist couldn’t believe how effective the treatment was. My form gradually returned, and I have been feeling much better since the end of May.. »
Source: Interviews with Laure Guéroult-Accolas, founder and director of Patients en réseau and member of the Testing collective / Patrick D. (patient)
Written by: Hélène Joubert – Edited by Emmanuel Ducreuzet
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How is genetic testing for cancer done
The Importance of Genetic Testing in Cancer Diagnosis and Treatment
Genetic testing plays a crucial role in cancer diagnosis and treatment, enabling healthcare professionals to identify specific genetic mutations that are associated with an increased risk of developing certain types of cancer. This information can help guide treatment decisions and improve patient outcomes.
Who Can Benefit from Genetic Testing?
Genetic testing is particularly beneficial for individuals with a family history of cancer, as it can help identify those who may be at risk of developing the disease. According to Cancer Research UK [[1]], individuals may be eligible for an NHS genetic test if cancer runs in their family and they are worried about getting it too. Similarly, the American Cancer Society [[2]]notes that genetic testing looks for certain mutations in a person’s genes that might put them at higher risk of getting certain cancers.
Hereditary Breast and Ovarian Cancer
Genetic testing for hereditary breast and ovarian cancers involves looking for mutations in the BRCA1 and BRCA2 genes, which are associated with an increased risk of developing these cancers. According to the Centers for Disease Control and Prevention (CDC) [[3]], genetic testing for these conditions can help identify individuals who may benefit from early screening and prevention strategies.
Precision Medicine and Targeted Therapies
Genetic testing is also essential for precision medicine, which involves tailoring treatment to an individual’s unique genetic profile. By identifying specific genetic mutations, healthcare professionals can develop targeted therapies that are more effective and have fewer side effects. This approach has been shown to improve patient outcomes and increase survival rates.
Challenges in Accessing Genetic Testing
Despite the importance of genetic testing in cancer diagnosis and treatment, access to these tests can be limited due to financial constraints. Smaller hospitals and healthcare centers may not have the resources to offer genetic testing, which can create inequity in access to precision medicine.
The Need for Improved Financing and Access
The Testing collective, a group of experts and patient advocates, is calling for improved financing solutions to ensure that all patients have access to genetic testing and the innovative treatments that result from it. This includes the establishment of additional packages for healthcare establishments to cover the cost of genetic testing.
Conclusion
Genetic testing is a crucial tool in the fight against cancer, enabling healthcare professionals to identify specific genetic mutations that are associated with an increased risk of developing certain types of cancer. By improving access to genetic testing and financing solutions, we can ensure that all patients have access to precision medicine and the targeted therapies that can improve their outcomes and save their lives.
References:
[1] Cancer Research UK. (n.d.). Genetic testing
Examples of precision medicine in cancer
In Cancer, Genetic Testing is the Key to Precision Medicine
Genetic testing is a crucial component of precision medicine in cancer treatment. It involves looking for specific variations in DNA within the tumor itself, which can lead to targeted and more effective treatments, reducing therapeutic wandering and increasing the chances of recovery. However, the funding and access to these innovations are uncertain, and patients and caregivers are mobilizing within the Testing collective to address this issue.
Genetic Testing: A Condition for Precision Medicine
According to Laure Guéroult-Accolas, founder and director of Patients en réseau and member of the Testing collective, “Access to these genomic tests, the cornerstone of precision medicine in cancer, remains limited by an inadequate evaluation and financing framework.” Some non-profit establishments in France, including public hospitals and cancer treatment centers, will soon no longer be able to offer these tests to patients due to administrative and financial reasons.
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