Table 2. Final consensus terms for allele functional status and phenotype.

Term/Gene Category	Final Term*	Functional Definition	Genetic Definition	Example diplotypes/alleles
Allele Functional Status-all genes	Increased Function	Function greater than normal function	N/A	CYP2C19*17
	Normal Function	Fully functional/wild-type	N/A	CYP2C19*1
	Decreased Function	Function less than normal function	N/A	CYP2C19*9
	No Function	Non-functional	N/A	CYP2C19*2
	Unknown Function	No literature describing function or the allele is novel	N/A	CYP2C19*29
	Uncertain Function	Literature supporting function is conflicting or weak	N/A	CYP2C19*12
Phenotype- Drug Metabolizing Enzymes (CYP2C19, CYP2D6, CYP3A5, CYP2C9, TPMT, DPYD, UGT1A1)	Ultra-rapid Metabolizer	Increased enzyme activity compared to rapid metabolizers.	Two increased function alleles, or more than 2 normal function alleles	CYP2C19*17/*17 CYP2D6*1/*1XN
	Rapid Metabolizer	Increased enzyme activity compared to normal metabolizers but less than ultra- rapid metabolizers.	Combinations of normal function and increased function alleles	CYP2C19*1/*17
	Normal Metabolizer	Fully functional enzyme activity	Combinations of normal function and decreased function alleles	CYP2C19*1/*1
	Intermediate Metabolizer	Decreased enzyme activity (activity between normal and poor metabolizer)	Combinations of normal function, decreased function, and/or no function alleles	CYP2C19*1/*2
	Poor Metabolizer	Little to no enzyme activity	Combination of no function alleles and/or decreased function alleles	CYP2C19*2/*2
Phenotype- Transporters (SLCO1B1)	Increased Function	Increased transporter function compared to normal function.	One or more increased function alleles	SLCO1B1*1/*14
	Normal Function	Fully functional transporter function	Combinations of normal function and/or decreased function alleles	SLCO1B1*1/*1
	Decreased Function	Decreased transporter function (function between normal and poor function)	Combinations of normal function, decreased function, and/or no function alleles	SLCO1B1*1/*5
	Poor Function	Little to no transporter function	Combination of no function alleles and/or decreased function alleles	SLCO1B1*5/*5
Phenotype- High risk genotype status (HLA-B)	Positive	Detection of high-risk allele	Homozygous or heterozygous for high-risk allele	HLA-B*15:02
	Negative	High risk-allele not detected	No copies of high-risk allele

^*All terms should begin with the gene name (e.g., CYP2D6 Poor metabolizer, TPMT Normal metabolizer, SLCO1B1 Decreased Function)