Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe

BMC Medical Genomics

Table 1 Pharmacogenetic tests provided by 23andMe

Drugs	Gene	Variant	SNP	Purpose of test	FDA/PharmGKB Guidance^a	Guidelines^b
Abacavir	HLA-B	*57:01	rs2395029	Hypersensitivity reactions	Genetic testing required CPIC, DPWG	CPIC, DPWG
Acetaldehyde	ALDH2	*2	rs671	Toxicity and risk of oesophageal squamous cell carcinoma	No recommendation	-
Clopidogrel (Plavix®)	CYP2C19	*2	rs4244285	Efficacy and ADRs	Genetic testing recommendation	CPIC, DPWG
		*3	rs4986893
		*4	rs28399504
		*8	rs41291556
		*17	rs12248560
Fluorouracil (Adrucil®)	DPYD	*2A	rs3918290	Toxicity and ADRs	Actionable PGx	CPIC, DPWG
Peginterferon alpha (PEG-IFN-alpha) & ribavirin (RBV)	19q13 region		rs8099917	Hepatitis C treatment failure	Actionable PGx	CPIC
Phenytoin	CYP2C9	*2	rs1799853	Sensitivity and Dosage adjustment	Actionable PGx	CPIC, DPWG
		*3	rs1057910
Proton Pump Inhibitor (PPI)	CYP2C19	*2	rs4244285	Efficacy and Dosage adjustment	Informative PGx	DPWG
		*3	rs4986893
		*4	rs28399504
		*8	rs41291556
		*17	rs12248560
Pseudocholinesterase	BCHE	F1	rs28933389	ADR - extended paralysis and apnoea	Actionable PGx	-
Deficiency		F2	rs28933390
		A	rs1799807
Simvastatin	SLCO1B1	*5	rs4149056	ADR - Myopathy	No recommendation	CPIC
Sulfonylurea	CYP2C9	*2	rs1799853	Efficacy and Dosage adjustment	No recommendation	DPWG
		*3	rs1057910
Thiopurine Methyltransferase	TPMT	c.460G > A, *3B	rs1800460	Toxicity and ADRs	Genetic testing recommended	CPIC, DPWG
		c.238G > C, *2	rs1800462
		c.719A > G, *3C	rs1142345
Warfarin	CYP2C9	*2	rs1799853	Efficacy and Dosage adjustment	Actionable PGx	CPIC
		*3	rs1057910
	VKORC1		rs9923231

^aPharmGKB evaluated the pharmacogenetic (PGx) information provided by U.S. FDA approved drug labels, and assigned each test with a level of recommendation according to the level of clinical evidence, [7] The levels begin from genetic testing required, genetic test recommended, Actionable PGx to Informative PGx.
^b: Guidelines from https://www.pharmgkb.org/view/dosing-guidelines.do published by the Clinical Pharmacogenetics Implementation Consortium (CPIC) or the Royal Dutch Association for the Advancement of Pharmacy - Pharmacogenetics Working Group (DPWG)
*used to indicate that these values represent a given variant in the literature

ISSN: 1755-8794