Translational Software, pharmacogenomics use case slide share
Pharmacogenomics Use Case
Director of Business Development
Avadhut Joshi Ph.D.
Clinical Pharmacogenomics Lead
Translational Software transforms genetic data to
actionable information to improve the health each
patient that we serve
Ms. F is a 54 year old female and is visiting Dr. Michael for a follow up.
Over the past two years she has had frequent flu like symptoms that she
describes as a chronic body ache, especially around the major limbs of
her body. Seven months ago she went on short term disability from her
job as a teacher and when she returned to work for the following school
year, she was assigned to a substitute teaching position due to her
inability to work five days per week.
The considerable loss of income has affected her mood, sleep and
standard of living. She is contemplating going onto long term disability
until Dr. Michael is able to control her symptoms.
Six months ago, Dr. Michael prescribed SSRI therapy and opioid
therapy for her depressed mood and her pain. She was also enrolled in
physical therapy which she attended twice per week.
Ms. F reports that her appetite seems to have increased during therapy,
the frequency and intensity of the pain does not appear to change and
she now reports a high level of constipation and daytime sedation.
Case: Dr. Michael and Patient Ms. F
Paroxetine, Codeine, Celecoxib, Lasix, Lisinopril
• Dr. Michael uses DNALabs for molecular testing and recently they
added PGxPersonal to their portal.
• This tool calculates the potential benefit of pharmacogenomics
testing for Ms. F.
• Dr. Michael is not aware of the specific genetic guidance for any of
the medications but is curious to see what information may be
• In entering Ms. F’s current medication, Dr. Michael learns that:
– A 12% prevalence of critical warnings exists in the population for
both Paroxetine and Codeine.
– A Pharmacogenomic test is strongly recommended.
Dr. Michael noticed that Ms. F is a poor CYP2D6 metabolizer and therefore
paroxetine and codeine therapies may not be optimal and could explain the
decreased efficacy of codeine and the observed side effects.
After refining her diagnosis and tapering off of her current therapies, Ms. F was
prescribed sertraline and pregabalin, each titrated to their therapeutic dose over the
course of 6 weeks.
Ms. F’s mood and sleep improved and her chronic neuropathy subsided to a level
where she reengaged with her physical therapy.
Shortly afterwards, she as able to comfortably work three days a week and on
occasion was able to work a fourth day when called upon. She plans to reapply for
a full time position when the next semester starts.
Roughly 15% of patients may exhibit adverse events when treated with an antidepressant metabolized
For clinicians that are considering PGx testing, it is important to know the potential
value of a test.
If the patient is not currently taking or considering a medication that is affected by a
polymorphic gene then the immediate value of a test is low and both the clinician
and the patient are likely to be disappointed.
Clinicians and patients may not have awareness of genetic implications on
medication therapy and rather than extensive education, surfacing the specific
potential benefit and the reasons behind the test relevant to the individual is more
efficient and effective.
Surfacing individual utility and risk may also help in realizing reimbursement, a
financial benefit to the patient.