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“Equipoise*” The Application of Pharmacogenomics in Clinical Practice

Mary S. Riccelli, PMHNP, B.C. Meliora Direct Health Colorado 8400 East Crescent Parkway Greenwood Village, CO 80111 New York 488 Pawling Ave Troy, NY www.melioradirecthealth.org 720-317-9460

Disclosures

Relevant Financial Relationships:

Receives speakers’ bureau financial compensation from GENOMIND Inc.

Receives honoraria for CE courses and seminars, including this one.

Owner Meliora Direct Health LLC

Mary S. Riccelli, PMHNP, B.C.

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“Change the way you look at things and the things you look at will change.”

Wayne Dyer

Traditional Treatment Strategy

✓Obtain patient history including family history, symptom profile, and past treatment response

✓ Utilize Clinical Practice Guidelines

✓ Use appropriate screening tools

✓ Select diagnosis and treatment

Proposed New Treatment Strategy

✓ Exhaust all evidence-based solutions

✓ Take another history

✓ Reconsider diagnosis

✓ Collect new data!

✓ Pharmacogenomics!

✓ Treat by rebalancing all evidence “equipoise”*

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Why use genetic testing in clinical practice?

✓ Avoid the trial and error approach

✓ Improve compliance with treatment

✓ Take a wider look at all available evidence-“let the brain talk”

✓ Successful interpretation and application generates more referrals from satisfied patients

✓ Fewer phone calls from patients, because they are stable If the brain could talk!

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"There is no reason anyone would want a computer in their home.”

Ken Olsen, founder of Digital Equipment Corporation, 1977

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Genetics is the New Technology in Psychiatry

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Key Questions

Does the test result have any clinical utility?

Will it change or improve my practice?

Will it help my patient?

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It’s Nature and Nurture!!

Epigenetics: the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself.

GeneticsYour parents did it!

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Reading and Interpreting ResultsPHARMACODYNAMIC GENES

SLC6A4BDNF

Efficacy of SSRIs

5HT2C MC4R

Weight gain

CACNA1CANK3

Neuronal Signaling

COMTADRA2A

Prefrontal and Frontal Cortex Dopamine-Response to Stimulants

DRD2 DOPAMINE Receptors: Response to Antipsychotics

GRIK1OPRM1

Alcoholism and other impulsive/addictive behaviors:Response to Topiramate and Response to Opiates

MTHFR Methylation and Supplements

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Efficacy of SSRIs

Gene: SLC6A4

Efficacy of SSRIs

Gene: SLC6A4

I’ve tried all the SSRIs,-twice!! and

none of them work! Then my doctor added Aripiprizole and Bupropion-it still didn’t work!!! Then the doctor told me-

Try exercise!!!

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Proportionate distributions (%) of SLC6A4 variants in different global populations.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487694

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Efficacy of SSRIsGENE: BDNF

https://www.ncbi.nlm.nih.gov/pubmed/Role of exercise-induced brain-derived neurotrophic factor production in the regulation of energy

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Weight Gain:Genes: 5HT2C and MC4R

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MTHFR

rhttp://www.mdl-labs.com/providers/tests/mthf

Supplements

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COMT: VALVAL

COMT: MET/MET

MET/MET= anxietyNeed to decreaseDopamine

Aripiprizole/Lurasidone/CariprazineHyper-dopaminergic prefrontal cortexHigh anxietyHyper-focusedHyper-sensitive

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ADRA2A

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CYP 450

21Why is CYP Variation Relative?

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