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Full Text
Conclusions
We have attempted to highlight some of the salient issues in the implementation of PCM. As summarized in Table 2, we have described a number of areas in which new standards need to be established before PCM implementation, including the collection, analysis, and sharing of cancer patient samples and data, as well as the need for new clinical trial designs. In addition, we have identified areas where significant research efforts are needed before PCM policies can be established, notably regarding the non-genetic aspects of cancer. This discussion is, by choice, more selective than comprehensive, and some elements might be missing from this list. However, we have identified broad themes that we think should be tackled by policymakers who are presently taking decisions on PCM implementation. A better understanding of the complex scientific and policy issues posed by PCM by all stakeholders is desirable in order to find solutions and improve the translation of PM in public and private health systems.
Table 1
The contribution of genomic information to precision cancer medicine
The contribution of genomic information to precision cancer medicine
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Typical example(s)
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Cancer risk reduction
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Genetic testing of BRCA1/BRCA2 in hereditary breast cancer and ovarian cancer; MSH2/MSH6/MLH in hereditary nonpolyposis colorectal cancer; RB1 in retinoblastoma
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Early detection
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Liquid biopsies
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Accurate diagnosis
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Using molecular markers in tumor classification
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Targeted therapy
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EGFR inhibitors to treat EGFR mutation carriers; BRAF inhibitors to treat BRAF V600E carriers; Tyrosine-kinase inhibitor to treat BCR–ABL fusion protein
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