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A SURVEY OF CURRENT PHARMACOGENETIC TESTING IN THE UK AND IRELAND

A SURVEY OF CURRENT PHARMACOGENETIC TESTING IN THE UK AND IRELAND. Simon Ramsden, Nikki Gambhir, Jennifer Higgs, Kay Poulton, William Newman. Background. Imatinib ( Glivec/Gleevec) Gastrointestinal stromal tumor (GIST) a is a rare tumor of the gastrointestinal tract resistant to chemotherapy.

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A SURVEY OF CURRENT PHARMACOGENETIC TESTING IN THE UK AND IRELAND

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  1. A SURVEY OF CURRENT PHARMACOGENETIC TESTING IN THE UK AND IRELAND Simon Ramsden, Nikki Gambhir, Jennifer Higgs, Kay Poulton, William Newman

  2. Background • Imatinib (Glivec/Gleevec) • Gastrointestinal stromal tumor (GIST) a is a rare tumor of the gastrointestinal tract resistant to chemotherapy. • Due to somatic activating mutations in c-KIT exons 9, 11 13, 17 or PDGFRA exons 12, 14 and 18

  3. Current Scope of the UKGTN

  4. Molecular testing for acquired changes • Published in May 2008 • 50 labs surveyed • 33 responded • 22 using molecular tests. • FISH (haematology) • IHC (CRC, BrCa, haematology) • DNA (somatic mutations/MSI/ LOH/arrays)

  5. None reported characterising tumours for drug response cKIT and PDGFR in GISTS - Imatinib (Glivec) KRAS in colorectal cancer - Cetuximab (Erbitux) EGF receptor in non-small cell lung cancerErlotinib (Tarceva)

  6. Pharmacogenetics in Australia and NZ 2005 Questionnaires sent to 629 labs (Aus & NZ) – 510 (81%) responses Genotyping – 10 Phenotyping – 18

  7. Pharmacogenetics in Australia and NZ • Phenotyping: • TPMT (Azathioprine/6 mercaptopurine) • Pseudocholinesterasesuxamethonium/mivacurium) • CYP2D6 (Codeine/Perhexiline) PGx tests performed rarely in clinical practice. • Genotyping: • TPMT • Pseudocholinesterase

  8. Irinotecan (Camptosar) Chemotherapy agent used is in treatment of colon cancer Extreme suppression of the immune system Particular caution should be exercised ……in patients known to be homozygous for UGT1A1*28 allele.

  9. Current prescribing advice “Between 2000 and 2005 43 new drug labels were approved [by the FDA] that contained pharmacogenomic information reflecting 37% of all new approved labels.”

  10. Scope of Questionnaire • Multidisciplinary: • - CMGS HoLs • H&I National Network • RCPath Bulletin • UK and Ireland • Inherited changes

  11. Participants by specialty • 10 Genetics • 16 Histocompatibility & Immunogenetics • 5 Biochemistry • 1 Haematology Total 32

  12. Accreditation 30/32 labs CPA accredited 100% of all UK NHS labs were

  13. Does your laboratory offer any pharmacogenetic test services? • 3/10 Genetics • 14/16 Histocompatibility & Immunogenetics • 4/5 Biochemistry • 0/1 Haematology

  14. Current pharmacogenetic services

  15. Current pharmacogenetic services

  16. Current pharmacogenetic services

  17. Carbamazepine - Brand names Carbatrol, Equetro, Tegretol, Tegretol XR, Epitol • Anticonvulsant/mood stabilizing drug - epilepsy and bipolar disorder • Dangerous/fatal skin reactions esp. in patients with HLA-B*1502 • HLA-B*1502 almost exclusively in patients South Asian ancestry. • Widely prescribed • PGx only offered selectively

  18. Abacavir - Brand name Ziagen • Antiviral reverse transcriptase inhibitor - HIV-1 infection. • Hypersensitivity reactions occur in approximately 5% - strongly associated with HLA-B*5701 and can be fatal • Prevalence of HLA-B*5701. Highest in India lowest in SE Asia. • Widely prescribed • PGx widely offered

  19. For what reasons does your laboratory not offer pharmacogenetic test services? H & I • No Demand Genetics • No demand • Not previously cost effective • No proven clinical validity or utility • Lack of guidelines or evidence for clinical benefit or effectiveness

  20. Co-ordination of PGx tests Do you believe there is a need for an implementing body whose main function will be to co-ordinate pharmacogenetic laboratory services in the UK (similar to the UK Genetic Testing Network)? • Genetics – 10/10 labs voted yes (prevent monopoly) • H & I: 8/15 – yes (no: restrictive/protectivist) • Biochem: 0/5 – yes • Haem: 1/1 - yes

  21. Conclusions – The Present • Compared to previous surveys - big increase in PGx • Many labs across different disciplines • Lab offering tests depends on nature of test (ie not to a generic PGx lab)

  22. Conclusions – The Future • More tests being developed: • Poor response to tamoxifen in BRCA predicted by CYP2D6 • Antibiotic (aminoglycoside) ototoxicity associated with m.1555A>G • Setting standards – • American Association of Biochemists practice guidelines • EQA • Is there a role for the UKGTN.

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