Clinical Programmes


Pharmacogenetic testing for Suxamethonium (Succinylcholine)

posted May 28, 2017, 1:22 AM by Vinod Scaria   [ updated May 28, 2017, 1:24 AM ]


Request a test for your patient
The tests can be requested only by Registered clinicians. If you are a patient, you could contact your consulting clinician to refer you for genetic screening.

Recommendation and Drug Label warning
The US FDA-approved label warns that individuals who are carriers of the atypical variant of the plasma cholinesterase gene (BCHE) are at risk of prolonged apnea if administered succinylcholine. The US FDA-approved label contraindicates succinylcholine for individuals carrying one of many genetic variants known to increase the risk of adverse side effect.

Information Brochure
Download the GOMED Information Brochure on Pharmacogenetic testing for Suxamethonium

Suxamethonium (Succinylcholine) is an adjunct to general anesthesia, to facilitate tracheal intubation, and to provide skeletal muscle relaxation during surgery or mechanical ventilation. Succinylcholine, is a fast-acting depolarising muscle relaxant and is widely used in clinical settings. Succinylcholine is an analog of the neurotransmitter acetylcholine. The molecule binds non-competitively and therefore the binding cannot be reversed and recovery is spontaneous.

The molecule is metabolised by the BChE enzyme encoded by the BCHE gene. Patients with normal BCHE gene hydrolyze 90% of the injected drug dose before it reaches nerve synapse in the muscle. In contrast, subjects with an abnormal BChE gene results in a huge overdose leading to prolonged muscle paralysis, a serious and potentially lethal adverse drug response. Apart from succinylcholine containing drugs Quelicin & Anectine, the gene also is involved in metabolism of mivacurium, ester local anesthetics particularly chloroprocaine. 

The prevalence of BCHE deficiency varies with population as well as ethnic subgroups. The incidence is approximately 1 in 100,000 individuals of European or American descent being homozygous for the variant, whereas some ethnic subgroups, including the Vysya community of India have a high prevalence of approximately 4%. 

Genetic variants associated with BChE deficiency
A number of genetic variants are associated with BChE deficiency. ClinVar, a comprehensive resource for genetic variants associated with human traits lists over 31 pathogenic variants. The prevalent genetic variants include: rs104893684; rs28933390; rs12198557; rs28933389; rs121918558; rs201820739; rs1799807 and rs121918556 in BCHE gene.
Referring your patient for Pharmacogenetic testing of BChE gene
Pharmacogenetic testing in research mode for succinylcholine is available through the GOMED programme for the prevalent variant rs104893684 in South Asian Populations. Additional variants listed above may be tested on request of the investigator.

Documentation required 
1) Genomic test request 
Please write a referral on your letterhead regarding the referral and the test you would be requesting.
2) Consent forms (one each for each patient) 
The consent forms for genomic analysis needs to be signed individually by each member (or parent/guardian in case the person is a minor). Each consent needs to be counter-signed by the investigator.
Since you would be posting out blood samples, you would require to attach a declaration which should be signed/stamped and given to the courier/postage department for processing your courier. 
Referring us a case for genetic testing
Please follow the step-wise guidelines as described here for referring a case. Please follow the instructions for packing and sending us samples.

Pharmacogenetic testing for 5-Fluorouracil

posted Apr 22, 2017, 5:43 AM by Vinod Scaria   [ updated Apr 22, 2017, 5:59 AM ]


Fluorouracil (5-FU) is a commonly used anticancer drug. It functions by irreversibly inhibiting thymidylate synthase.
  • 5-FU is widely used in a number of cancers worldwide and is in the WHO list of Essential Medicines.
  • Detoxification of 5-FU is mediated by the dihydropyrimidine dehydrogenase (DPD) gene. 
  • Apart from 5-FU, the gene also is involved in detoxification of Capecitabine, and Tegafur.
  • Genetic variations in the gene can cause a partial or complete deficiency of function, which may lead to drug toxicity, which are severe.

Pharmacogenetic testing is recommended on the FDA Drug label
The USFDA-approved drug label for fluorouracil states that the drug is contraindicated in patients with known DPD deficiency.

CPIC Dosing Guidelines for fluoropyrimidines recommends an alternative drug for patients who are homozygous for DPYD non-functional variants as these patients are typically DPD deficient and a 50% reduction for heterozygous patients.

Being part of the programme.
Please email us at vinods@igib.in 

What variants are presently being tested ?
Pharmacogenetic testing in research mode for 5FU is available through GOMED for variants rs67376798 , rs3918290, rs5586062 and rs2297595 in DPD gene.

Information Brochure
Genomic test request
Please write a referral on your letterhead regarding the referral and the test you would be requesting. Pack the documents with the box you would be sending across

Consent forms (one each for each patient)
The consent forms for genomic analysis needs to be signed individually by each member (or parent/guardian in case the person is a minor). Each consent needs to be counter-signed by the investigator.

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