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Translational Software, pharmacogenomics use case slide share


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A use case showing the utility of pharmacogenomics and a screening tool to assess the potential benefit of a laboratory test.

Published in: Healthcare

Translational Software, pharmacogenomics use case slide share

  1. 1. Pharmacogenomics Use Case Rick Shigaki Director of Business Development Avadhut Joshi Ph.D. Clinical Pharmacogenomics Lead
  2. 2. Translational Software Our Mission: Translational Software transforms genetic data to actionable information to improve the health each patient that we serve
  3. 3. 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 Medication History: Paroxetine, Codeine, Celecoxib, Lasix, Lisinopril
  4. 4. • 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 surfaced. • 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.
  5. 5. Ms. F’s PGX Report JW
  6. 6. Ms. F’s Alternative Meds JW
  7. 7. 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 by CYP2D6
  8. 8. 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.