FAQs




Answers

What is pharmacogenomics?

Pharmacogenomics is the study of how people respond to drugs based on their genetic makeup.


Is pharmacogenomics the same as personalized medicine?

Personalized (or precision) medicine involves tailoring an individual's healthcare in order to optimize the effectiveness of disease diagnosis, treatment, and prevention. Pharmacogenomics is the component of personalized medicine that helps ensure patients receive the right dose of the right medication.


What are PharmGKB evidence levels?

PharmGKB Clinical annotations are rated based on the level of evidence for the association. There are 4 levels with Level 1 having the highest evidence and level 4 the lowest. The PharmGKB curators use specific criteria (population size, number of studies, statistical significance, reproducibility) to assess Variant Annotations and determine the level of evidence.


What do the reports look like?

Sample reports for the Drug-Drug Interaction Report, the Personalized Pharmacogenomic Overview, and the Detailed Drug-Gene Report are available.


How do I read the Detailed Drug-Gene Report Tables?

For each drug provided tables are given that includes any clinical annotations that were identified based on your DNA file. In the first column is the PharmGKB evidence level. There are 4 levels possible with Level 1 having the highest evidence and level 4 the lowest. The PharmGKB curators use specific criteria (population size, number of studies, statistical significance, reproducibility) to assess Variant Annotations and determine the level of evidence. Next is the associated gene then the rsID (location) and the genotype. At each rsID, there are 4 possible letters present (A, C, G, T). These are called alleles, and the pair of alleles observed at each rsID is called the genotype. If your genotype matches the reference it is shown in black, if there is a variant, it is shown in purple.

Evidence Gene rsID Genotype Clinical Relevence
2 APOE 7412 CC If you are treated with ATORVASTATIN, then you may have a reduced response (less reduction in LDL-cholesterol)

What if I haven't had my DNA tested?

There are many Direct to Consumer at-home DNA testing companies including Ancestry, 23andme, FamilyTree, LivingDNA, and MyHeritage that provide inexpensive testing with access to the raw DNA file upon completion.


Do you accept whole exome sequencing or whole genome sequencing files?

Not at this time. These files are considerably larger, and we are currently adapting our platform for screening these files in a timely fashion.


What security measures are used?

Your raw DNA file is identified only by the random number you are assigned when you sign up for an account. We keep all DNA data in encrypted stores with restricted access, even within the company. Furthermore, only the owner of an account, or someone made a manager by the owner has access to the raw DNA file and all associated reports.


What is a star allele?

Star alleles is an annotation system used to identify pharmacogenomic markers. By using star alleles, a single star allele can identify not just a single variant, but a group of variants.


What star alleles are tested?

MyGenomeRx checks 2038 genes at over 1 million rsIDs but results depend on the rsIDs sequenced initially that are part of your raw DNA file, thus MyGenomeRx reports are dependent on the initial platform used for testing. Below are some of the allelic variations checked by the Ancestry and 23and me DNA platforms.

Ancestry
    CYP1A2
    CYP1A2*1F
    CYP2A6
    CYP2A6*2; CYP2A6*9A; CYP2A6*15
    CYP2B6
    CYP2B6*18; CYP2B6*22; CYP2B6*27
    CYP2C8
    CYP2C8*2; CYP2C8*3; CYP2C8*4; CYP2C9*13
    CYP2C9
    CYP2C9*3; CYP2C9*5; CYP2C9*6; CYP2C9*8
    CYP2D6
    CYP2D6*9; CYP2D6*10; CYP2D6*38
    CYP3A4
    CYP3A4*1B; CYP3A4*1G; CYP3A4*8; CYP3A4*18B; CYP3A4*20; CYP3A4*22
    CYPP3A5
    CYP3A7*1A; CYP3A5*3; CYP3A5*6; CYP3A5*7
    CYP4F2
    CYP4F2*3
    G6PD
    G6PD A- 202A_376G; G6PD Mediterranean; G6PD Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham
    NAT2
    NAT2*5; NAT2*6; NAT2*7; NAT2*12; NAT2*13; NAT2*14
    SLCO1B1
    SLCO1B1*1B; SLCO1B1*9; SLCO1B1*12; SLCO1B1*14; SLCO1B1*15
    TPMT
    TPMT*3A; TPMT*3B; TPMT*3C; TPMT*23; TPMT*37
    UGT
    UGT1A1*6; UGT1A1*60; UGT1A6*2a; UGT1A6*4a; UGT1A6*8; UGT2B15*2

23andMe
    CYP1A2
    CYP1A2*1F
    CYP2A6
    CYP2A6*2; CYP2A6*10; CYP2A6*17; CYP2A6*21
    CYP2B6
    CYP2B6*18; CYP2B6*2; CYP2B6*22; CYP2B6*27; CYP2B6*28; CYP2B6*4; CYP2B6*5
    CYP2C19
    CYP2C19*10; CYP2C19*11; CYP2C19*13; CYP2C19*14; CYP2C19*15; CYP2C19*17; CYP2C19*19; CYP2C19*3
    CYP2C8
    CYP2C8*2; CYP2C8*3; CYP2C8*4
    CYP2C9
    CYP2C9*11; CYP2C9*16; CYP2C9*2; CYP2C9*27; CYP2C9*3; CYP2C9*31; CYP2C9*42; CYP2C9*5; CYP2C9*6; CYP2C9*8
    CYP2D6
    CYP2D6*2; CYP2D6*3; CYP2D6*6; CYP2D6*7; CYP2D6*8; CYP2D6*9; CYP2D6*10; CYP2D6*14; CYP2D6*17; CYP2D6*29; CYP2D6*33; CYP2D6*39; CYP2D6*41; CYP2D6*45; CYP2D6*55; CYP2D6*64; CYP2D6*65; CYP2D6*69; CYP2D6*91; CYP2D6*98; CYP2D6*114
    CYP3A4
    CYP3A4*1B; CYP3A4*4
    CYP3A5
    CYP3A5*3; CYP3A5*6; CYP3A5*7
    CYP3A7
    CYP3A7*1A
    CYP4F2
    CYP4F2*3
    G6PD
    G6PD A- 202A_376G; G6PD Mediterranean; G6PD Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham,
    NAT2
    NAT2*5; NAT2*6; NAT2*7; NAT2*12; NAT2*13; NAT2*14
    SLCO1B1
    SLCO1B1*1B; SLCO1B1*9; SLCO1B1*12; SLCO1B1*14; SLCO1B1*15
    TPMT
    TPMT*3A; TPMT*3B; TPMT*3C; TPMT*3D; TPMT*1S; TPMT*24
    UGT
    UGT1A1*6; UGT1A1*60; UGT1A6*4a; UGT1A6*8; UGT2B15*2