Abstract
Rapid advancements in next-generation sequencing (ngs) technology have created an unprecedented opportunity to decipher the molecular profile of tumours to more effectively prevent, diagnose, and treat cancer. Oncologists now have the option to order molecular tests that can guide treatment decisions. However, to date, most oncologists have received limited training in genomics, and they are now faced with the challenge of understanding how such tests and their interpretation align with patient management. Guidance on how to effectively use ngs technology is therefore needed to aid oncologists in applying the results of genomic tests. The Canadian guideline presented here describes best practices and unmet needs related to ngs-based testing for somatic variants in oncology, including clinical application, assay and sample selection, bioinformatics and interpretation of reports performed by laboratories, patient communication, and clinical trials.
Highlights
Next-generation sequencing is the sequencing of millions of small fragments of dna in a massively parallel fashion[1]
Rapid advancements and adoption of precision medicine allow for an unprecedented use of ngs technologies in clinical practice
Oncologists have the ability to provide the highest level of personalized care to cancer patients to optimize treatment choices and outcomes
Summary
Next-generation sequencing (ngs) is the sequencing of millions of small fragments of dna in a massively parallel fashion[1]. Wgs is the most expensive; it is able to identify the greatest number of changes to the genome, including germline and somatic single nucleotide variants, insertions or deletions, copy-number variations, and gene rearrangements[7,41]. BRCA variants in ovarian cancer could be either germline (13%–15% of cases) or somatic (3%–10% of cases), with parp[1] inhibitors being effective in both types[47] In such cases, oncologists might need to refer patients to a geneticist for germline testing. Because ctdna or cftna can be measured repeatedly over time from a series of simple blood draws, it is possible to dynamically monitor tumour evolution, treatment response, and resistance mechanisms to more effectively tailor disease management Those methods can provide more representative samples, overcoming some of the limitations of tissue biopsies in regard to intra-tumour heterogeneity and differences between metastatic sites. Exactis Innovation (https://www.exactis. ca/about) is a pan-Canadian nonprofit organization that e249
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