Future Services Flashcards
What might be a future service for the lab?
Our current STP has just started a project (proof of principle) to look into the use of a sequencing panel to identify the major lymphoid and myeloid rearrangements seen in cancer.
What rearrangements does it cover?
It has been custom designed to pick up the rearrangements that are in the new test directory.
Why does the panel use RNA?
No introns so the panel is easier to design.
What are the advantages of a new panel such as this?
- potential diagnosis for patients who wouldn’t have got one
- panel will detect novel fusion partners so if KMT2A is rearranged it will tell you what with even if it’s not covered by the panel.
- detection of novel partners in this way could lead to new trials and drug developments in the future.
What are the drawbacks to the panel?
- Read depth has to be high as not all cells have the abnormality
- can’t currently detect genes which don’t have a fusion, e.g. the IG genes which are ‘position effect’ rearrangements.
- unsure if it can detect copy number changes?
Is cost an issue?
Definitely - FISH is much cheaper and many patients get a diagnosis via FISH.
?the overall clinical benefit may outweigh the increase in cost?
To begin with might get used on patients with all tests normal or where testing has failed?
Future might end up using on all patients except those where treatment is an emergency such as t(15;17).
Give an example of how useful this panel might be?
ALL samples that are all normal may end up having lots of FISH tests to rule out all know rearrangements etc.
New ones called BCR ABL-like have also been added to the list to total 9 FISH tests on an ALL which is a considerable amount of work!
Panel would replace this and could tell you the partner of the gene even if it isn’t targeted by the panel.
How might genetics services change in the future?
We might end up being more involved in clinics!
E.g. new Associate Physician role to run alongside doctors. As genetics becomes more mainstream and more health professionals are having to consider genetics, these might require on hand support in the clinic to help interpret results.
What challenges face genomics going forward?
The more information we get from patient samples obviously raises the challenge of consent - what do we look at? What do we report? Do we only answer the clinical question or should we be looking for things that are known to impact health of the patient in future?
Data storage - GDPR states genetic info is a piece of special sensitive information. Massive amounts of data need securely storing, who gets access? Public need to be confident that it is secure.
