CONGRESS 2023 - Molecular Pathology Service Delivery in Cancer: Focus on Next General Sequencing
NGS for molecular profiling of cancer in routine practice. There is legitimate expectation that molecular profiling of cancers can bring precious information to guide the treatment. The clinically relevant alterations are of varied types: gene mutations, copy numbers, rearrangements, but also protein levels of expression. Profiling of tumours in routine practice is complex logistically, due to the high number of patients and targets, the small size of the samples and the quick turn around time required. An exhaustive assessment requires a variety of platforms. Furthermore, it becomes relevant to repeat profiling on tissue and on blood during the patient’s treatment. Next Generation Sequencing (NGS) offers the possibility of multiplex testing, with high sensitivity and specificity. There are multiple approaches: whole genome sequencing, whole exome sequencing and panels of varied sizes. In practice, the focus is to concentrate on providing an exhaustive clinically relevant assessment for all patients, which is guided, for each type of tumour, by WHO and NICE or equivalent guidelines. There has been initially an excess of enthusiasm about what NGS could offer in routine practice; the technology had yet not reached the stage of being implementable within clinical practice without significantly destabilising the management. However, thanks to significant improvement, including automation of the process, efficient IT and Bioinformatics, NGS is now safely implementable. Pending a coherent political and funding approach, molecular diagnostic laboratories are able to provide high throughout sequencing of tumours on real life tissue samples and on blood. It is important to mention that the molecular diagnostic laboratories also need to maintain single gene testing, immunohistochemistry, FISH and to implement artificial intelligence based assays on tissue, which will be essential and complementary to NGS testing. The results of the molecular profiling will need to be transcribed in a comprehensive, integrated and clinically relevant report.
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NGS for molecular profiling of cancer in routine practice.
There is legitimate expectation that molecular profiling of cancers can bring precious information to guide the treatment.
The clinically relevant alterations are of varied types: gene mutations, copy numbers, rearrangements, but also protein levels of expression. Profiling of tumours in routine practice is complex logistically, due to the high number of patients and targets, the small size of the samples and the quick turn around time required. An exhaustive assessment requires a variety of platforms.
Furthermore, it becomes relevant to repeat profiling on tissue and on blood during the patient’s treatment.
Next Generation Sequencing (NGS) offers the possibility of multiplex testing, with high sensitivity and specificity. There are multiple approaches: whole genome sequencing, whole exome sequencing and panels of varied sizes.
In practice, the focus is to concentrate on providing an exhaustive clinically relevant assessment for all patients, which is guided, for each type of tumour, by WHO and NICE or equivalent guidelines.
There has been initially an excess of enthusiasm about what NGS could offer in routine practice; the technology had yet not reached the stage of being implementable within clinical practice without significantly destabilising the management.
However, thanks to significant improvement, including automation of the process, efficient IT and Bioinformatics, NGS is now safely implementable.
Pending a coherent political and funding approach, molecular diagnostic laboratories are able to provide high throughout sequencing of tumours on real life tissue samples and on blood.
It is important to mention that the molecular diagnostic laboratories also need to maintain single gene testing, immunohistochemistry, FISH and to implement artificial intelligence based assays on tissue, which will be essential and complementary to NGS testing.
The results of the molecular profiling will need to be transcribed in a comprehensive, integrated and clinically relevant report.