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Dr g vassiliou
 

Dr g vassiliou

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  • Haematologist Main interest pathogen. AML Developing interest in molecular diagnostics ... and I will talk to you about the potential impact of advances in DNA sequencing technologies on the field of cancer Δ , albeit with a slight overrepresentation of examples drawn from haematological cancers
  • 1. 2. Give examples of molecular tests in current use 3. A brief overview of developments in the field of cancer genomics and the technologies underpinning them 4. Talk about novel diagnostic applications 5. Challenges to introducing these and other genomic application to cancer diagnosis
  • 1. 2. Give examples of molecular tests in current use 3. A brief overview of developments in the field of cancer genomics and the technologies underpinning them 4. Talk about novel diagnostic applications 5. Challenges to introducing these and other genomic application to cancer diagnosis
  • As a general indication of how things have been going up until now and as I am sure many of us are aware, the CR-UK str..... recently invited research/Dic centres to apply for funding to offer a service for genotyping a set of mutations deemed to be of clinical relevance. So solid tumours are rapidly going the way of haematological cancers in requiring molecular info as part of their diagnostic work-up.
  • 1. 2. Give examples of molecular tests in current use 3. A brief overview of developments in the field of cancer genomics and the technologies underpinning them 4. Talk about novel diagnostic applications 5. Challenges to introducing these and other genomic application to cancer diagnosis
  • The magnitude of the change is represented here. This represents a >100 trillion-fold increase in sequencing capacity over 10 years
  • And to compare this to something more tangible, the white line here shows the rate at which the cost of transistors for computer circuits has been changing over the last decade (halfs every 2 years) – compared to the real cost of sequencing per megabase of DNA sequence
  • 1. 2. Give examples of molecular tests in current use 3. A brief overview of developments in the field of cancer genomics and the technologies underpinning them 4. Talk about novel diagnostic applications 5. Challenges to introducing these and other genomic application to cancer diagnosis
  • However, other more selective applications are also being developed All of which need to go through a NGS step
  • The main application of the new technologies is whole matched cancer/constitutional genome sequencing ...
  • The main application of the new technologies is whole matched cancer/constitutional genome sequencing ...
  • There are many examples of PCR based approaches including some multiplex PCRs that tackle lists such as the CR-UK. However, these can only be applied to small substitutions and Indels. An example of such an application is a test we are developing that can be used in AML with NK: In this disease, the genome is stable and numbers of coding mutations small. Approximately 20 recurrent mutations have been identified and for some prognostic implications are know. This tool would enable the determination of the effects of different combinations of mutations on prognosis & response to Rx.
  • 1. 2. Give examples of molecular tests in current use 3. A brief overview of developments in the field of cancer genomics and the technologies underpinning them 4. Talk about novel diagnostic applications 5. Challenges to introducing these and other genomic application to cancer diagnosis

Dr g vassiliou Dr g vassiliou Presentation Transcript