Transcript Genetics and Pathology

Genetics and Pathology
What can they do for each other?
Scottish Association of Histotechnology; Friday 27th May 2011
National Initiatives Affecting Both Disciplines
Scottish Genetic Laboratory Consortium
•Nationally funded NHS Genetic
Services
•Four centre Consortium covering
service Genetics for Scotland
•Responsible for a wide range of
inherited genetic conditions
Genetics and Pathology in NHS Tayside
• Future workload of Genetics will increasingly be
Molecular Pathology/Diagnostic tests
• Changes at the chromosome and DNA level will
– Aid diagnosis
– Determine outcome
– Define treatment pathways
• Partnership with Pathology is crucial for effective delivery
of Molecular Diagnostic tests
• Excellent relationship between Pathology and Genetics
in Tayside
Pathology
Sample
The starting point for all Molecular tests is DNA
2x10mm
•Yield is 1.1mg (20ml at 55ng/ml)
A good example of how Genetics and Pathology can work
together for inherited cancer is Lynch syndrome
•Familial colorectal cancer syndrome characterised by
hundreds of colorectal polyps as well as extra-colonic
tumours
•Important to distinguish families at high risk of Lynch
syndrome from sporadic disease
•Done through combination of genetic techniques and IHC
on tumour sections.
•Allows targeted testing of tumours for MMR defects
•“Best approach for
identifying cases of
Lynch syndrome is for
Pathologists and
Geneticists to work
closely together”
•“MSI and IHC were
most cost effective
when used as an initial
screening strategy”
Diagnostic testing – HNPCC and MSI
Medium Risk
MSI + IHC
MSI+ / MHLH neg
NR
-21
BAT26
BAT25
NR24
MONO
-27
Diagnostic testing – HNPCC and MSI
Genetics and Sporadic Cancer
“Not all cancer is inherited but all cancer is genetic”
IgH & TCR gene rearrangements
Diagnostic
MSI
BRAF p.V600E
KRAS
Prognostic
cKIT / PDGFR
Her2
Prognostic testing – KRAS and cKIT/PDGFRA
The presence of a mutation in KRAS in colorectal cancer or a cKIT /
PDGFRA mutation in GIST can have significant implications for
treatment.
KRAS
•Approximately 30-50% of colorectal tumours have a mutation at 3
codons in gene
•Tumours with a mutation will not respond to a specific class of treatment
•Important for patients to know what the mutation status of their tumour
is
GIST
85-90% of GISTs have activating mutations in cKIT or PDGFRA
The position of the mutation can influence how the tumour will respond
to specific treatment.
KRAS
For KRAS testing crucial to get good quality tissue
sections and to know the tumour load
GIST
What can be gained by working together?
•Shared expertise, skills and capital equipment
•Opportunities for integrated training at various career levels
•Opportunity to develop specialist teams
•Shared R&D
•Collaborative working is only way of delivering Molecular
Pathology/Diagnostics
•Future proof both disciplines
•Ultimately provide the best service to patients.
New initiatives in Scotland
•Training in Molecular Pathology/Diagnostics funded by NES
•Molecular Pathology Consortium
The Future for Genetics and Pathology
THANKS
Everyone in Pathology at Ninewells Hospital