PGx Basics
What two genes have high evidence for mental health medication interactions?
CYP2D6 and CYP2C19
What do FDA and AMP stand for?
Food and Drug Administration
Association of Molecular Pathology
What does CPIC stand for?
Clinical Pharmacogenetics Implementation Consortium
Invitae studies have shown that PGx testing leads to a reduction in which major driver of healthcare expense?
hospitalization
Define a “companion diagnostic test”
A companion diagnostic is a medical device or test which provides information that is essential for the safe and effective use of a corresponding drug or biological product.
What happens if a CYP2D6 ultrarapid metabolizer takes a prodrug metabolized by CYP2D6?
They convert so much to the active form that they are at risk of toxicity at standard doses.
Which of Invitae’s competitors is missing AMP Tier 1 alleles for CYP2D6 and CYP2C9?
Genesight
The majority of contributors at CPIC are what kind of healthcare provider?
Pharmacists
In our recent PIP paper, approximately what percentage of patients were taking PGx impacted medications in more than one clinical area?
Almost 60%
What state won a 834 million settlement from the makers of clopidogrel (Plavix)?
Hawaii
Name two commonly prescribed pain medication(s) have CYP2D6 interactions?
codeine, tramadol or hydrocodone
What CPIC levels are considered actionable?
A or B
What does CPIC level “A” mean?
Genetic information should be used to change prescribing of the associated drug.
In our recent PIP paper, if a patient had a PIP >0%, how many had an evidence-based actionable drug-gene interaction found at the time of testing?
1 in 3 (33%)
Who provides the financial funding to PharmGKB, proving they are a reliable source of recommendations?
The National Institute of Health / NIH.
How many high evidence genes are covered by our 38-gene panel
20 high evidence
What does AMP Tier 1 indicate?
AMP Tier 1 is the Minimum Recommendation for inclusion on a PGx test
What classification does CPIC assign drug interactions with SLC6A4?
B/C
In our recent publication on preliminary results from our collaboration with Christ Hospital Health Network, what percentage of significant interactions involved PGx?
~50%
There are two major, respected institutions who manage CPIC. Name one of them.
Stanford University
St. Jude Children’s Research Hospital
What commonly prescribed mental health medication is associated with a 9.1% increase in suicide in CYP2C19 PMs and UMs?
Citalopram and escitalopram
The FDA provides a table that categorizes interactions into three categories. This table is called the “Table of Pharmacogenetic Associations”. What are two of the three categories in this table?
Therapeutic Management Recommendations
Potential Impact on Safety or Response
Potential Impact on Pharmacokinetic Properties Only
When CPIC assigns a gene class B/C designation, what does that mean?
Prescribing actionability based on genetics is not clear without further evidence review and either at least one optional action (change in prescribing) is recommended (B) or no prescribing actions are recommended (C).
In Invitae’s recent PIP paper, what two commonly used pain medications were associated with the most EADGIs?
codeine and tramadol
Genesight is missing a key variant in a key gene with an allele frequency of 9% to 12% in those of African ancestry, 1.5% in Latinos, and <0.5% in European and Asian (Central/South and East Asian) populations. What gene is this in?
CYP2D6