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Published on: May 12, 2023
[Genetic testing in patients with cancer; new developments]
Margreet G E M Ausems1,2, Jan C Oosterwijk3, Maartje Nielsen4
1UMC Utrecht, afd. Genetica, div. Laboratoria, Apotheek en Biomedische Genetica, Utrecht.
Abstract:
Genetic testing in patients with cancer; new developments About 5% of patients with cancer have a causative germline mutation. When a germline mutation is detected, this may have major implications for treatment and follow-up of the patient, as well as for relatives who are at risk of carrying the mutation. Increasingly, DNA-testing of tumor tissue is being performed to identify potential druggable targets, aiming at personalized medicine. Both germline testing and tissue testing may have consequences for the patient, for treatment and for family members. Currently there is a trend towards mainstreaming of genetic testing, which implies that treating physicians will increasingly be the ones to order DNA tests. This implies that they need to be aware of the (family) consequences and pitfalls of genetic testing. It calls for close collaboration between clinical genetics and regional treating physicians, and adequate referral of patients with abnormal DNA results and those with other clues for a genetic predisposition. The aim being optimal tailored treatment for each patient and adequate cancer prevention for their relatives.
Insights
Genetic testing for cancer can identify germline mutations, impacting patient treatment and family screening. This trend towards mainstreaming requires physicians to understand the implications of genetic testing for personalized cancer care.
Area of Science:
- Oncology
- Medical Genetics
- Personalized Medicine
Background:
- Approximately 5% of cancer patients harbor a causative germline mutation.
- Germline mutations have significant implications for patient treatment, follow-up, and cascade screening of at-risk relatives.
- Tumor DNA testing is increasingly used to identify actionable targets for personalized cancer therapy.
Purpose of the Study:
- To discuss the implications of germline and tumor DNA testing in cancer patients.
- To highlight the trend towards mainstreaming genetic testing in clinical practice.
- To emphasize the need for physician awareness and collaboration in genetic testing.
Main Methods:
- Review of current developments in cancer genetic testing.
- Discussion of the impact of genetic testing on patient management and family members.
- Analysis of the trend towards integrating genetic testing into routine clinical practice.
Main Results:
- Germline mutations in 5% of cancer patients necessitate careful consideration for treatment and family screening.
- Tumor testing aids in identifying personalized treatment strategies.
- The mainstreaming of genetic testing requires enhanced physician education and interdisciplinary collaboration.
Conclusions:
- Genetic testing, encompassing both germline and tumor analysis, is crucial for tailored cancer treatment and prevention.
- Treating physicians must be equipped to manage the implications of genetic testing.
- Effective collaboration between clinical genetics and treating physicians ensures optimal patient care and family risk assessment.
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