A PATIENT VIGNETTE | 66 Year Old AA Female

66-year-old AA female with h/o DM, HTN, Depression, Anxiety, Insomnia, PVD with recent serious skin structure infection and PEDIS score of 7 ( https://www.mdcalc.com/pedis-score-diabetic-foot-ulcers ).

Patient was placed on methicillin empirically for wound infection. PathDNA testing was performed using E-swab in Amies solution and sent to the lab for 24 hour turn around. Report indicates S. aureus and mecA gene positive for a diagnosis of MRSA. For this reason, empiric antibiotic regimen was changed immediately from methicillin to ertapenem.

  

At the same visit patient underwent pharmacogenetic testing of CYP450 pathways using LuminusLive HIPPA compliant portal for AI based bio-informatics. Several medications were flagged for genetic influences and poor metabolism, anti-cholinergic burden score was computed and seen to be in high risk category. (1) A large number of drug to drug interactions and black box warnings were observed.

The patient’s regimen was then altered using the alternative medications function to assess efficacy of medication changes virtually before implementing in the clinical setting. The goal was to reduce the patient’s overall risk score from the current regimen.

During this analysis, the provider could see the various risks by hovering over the colored risk bar. In addition to that, during the alternative medication analysis, the provider could see the current market pricing of each drug considered and is given recommendations for medication changes by AI driven scraping of over 6000 sources updated twice daily along with live market pricing of pharmaceuticals.

The provider can use this data in any PA process for a new medication for the patient and can also be cost conscious in medication selections overall. The HIPPA compliant portal is available to the patient and their providers for the life of the patient. It’s portability is a critical benefit to seamless information transfer between providers and for any emergent conditions where internet access is available.

In conclusion, care was tailored to the specific variables for this patient’s genetic make-up and current medical regimen. The rapid turn-around of PathDNA WOUND allowed for an effective treatment course of antibiotic. The use of LuminusLive was able to significantly reduce the patient’s overall risk and increase efficacy of medications for this patient. This includes management of the patient’s anti- cholinergic burden, reduction of any genetic influences, and drug to drug interactions. Use of personalized medicine greatly impacted patient outcome in this scenario.

(1) Myint, PK., Fox, GC., Kwok, CS., Luben, RN., Wareham, NJ., & Khaw, KT. (2014). Total anticholinergic burden and risk of mortality and cardiovascular disease over 10 years in 21,636 middle and older aged men and women of the EPIC-Norfolk prospective population study. Age and Ageing, (In press).


PATHDNA Diagnostic PCR Testing Panels

PATHDNA™ | Antibiotic Resistance

SPECIMEN: One E-Swab

CONTAINER: One E-Swab in Amies Solution

TRANSPORT: Room Temperature

THIS PANEL INCLUDES THE FOLLOWING PATHOGENS:

  • Class A -lactamase (blaKPC)
  • Class A -lactamase (CTX-MGroup 1)
  • Antibiotic Sensitivity Test
  • Class B metallo–lactamase (blaNDM)
  • Vancomycin (vanA)
  • Methicillin (mecA)

PATHDNA™ | Ear, Nose & Throat (ENT)

SPECIMEN: One E-Swab

CONTAINER: One E-Swab in Amies Solution

TRANSPORT: Room Temperature

THIS PANEL INCLUDES THE FOLLOWING PATHOGENS:

  • Acinetobacter baumannii
  • Chlamydophila pneumoniae
  • Enterobacter aerogenes
  • Enterobacter cloacae
  • Haemophilus influenzae
  • Klebsiella pneumoniae
  • Moraxella catarrhalis
  • Mycoplasma pneumoniae
  • Proteus mirabilis
  • Pseudomonas aeruginosa
  • Staphylococcus aureus
  • MRSA
  • Streptococcus pneumoniae
  • Streptococcus pyogenes (Group A)

PATHDNA™ | Upper Respiratory Infection (URI)

SPECIMEN: One E-Swab

CONTAINER: One E-Swab in Amies Solution

TRANSPORT: Room Temperature

THIS PANEL INCLUDES THE FOLLOWING PATHOGENS:

  • Influenza A
  • Influenze B
  • RSV A
  • RSV B
  • HMPV A
  • HMPV B
  • Rhinovirus
  • Enterovirus
  • Bocavirus
  • Adenovirus
  • Coronavirus OC43
  • Coronavirus 229E
  • Coronavirus NL63
  • Coronavirus HKU1
  • PIV 1
  • PIV 2
  • PIV 3
  • PIV 4
  • Haemophilus influenzae
  • Streptococcus pneumoniae
  • Streptococcus pyogenes
  • Moraxella catarrhalis
  • Bordetella pertussis
  • Chlamydophila pneumoniae
  • Mycoplasma pneumoniae
  • Legionella pneumophila

PATHDNA™ | Urinary Tract Infection (UTI)

SPECIMEN: 4 ML RANDOM, CLEAN CATCH, MIDSTREAM URINE COLLECTION

CONTAINER: GRAY TOP URINE CULTURE TRANSPORT TUBE

MINIMUM VOLUME: 4 ML

TRANSPORT: ROOM TEMPERATURE-PRESERVED. SUBMIT IMMEDIATELY

PATHDNA™ | Wound Infection

SPECIMEN: One E-Swab

CONTAINER: One E-Swab in Amies Solution

TRANSPORT: Room Temperature

THIS PANEL INCLUDES THE FOLLOWING PATHOGENS:

  • Acinetobacter baumannii
  • Citrobacter freundii/braakii
  • Enterobacter aerogenes
  • Enterobacter cloacae
  • Enterococcus faecalis
  • Enterococcus faecium
  • Escherichia coli
  • Klebsiella oxytoca
  • Klebsiella pneumoniae
  • Morganella morganii
  • Proteus mirabilis
  • Pseudomonas aeruginosa
  • Staphylococcus aureus
  • MRSA
  • Streptococcus pyogenes (Group A)

PATHDNA™ | Women’s Health

SPECIMEN: One E-Swab

CONTAINER: One E-Swab in Amies Solution

TRANSPORT: Room Temperature

THIS PANEL INCLUDES THE FOLLOWING TESTS:

  • CANDIDIASIS PANEL
  • AEROBIC VAGINITS PANEL
  • STD PANEL
  • BACTERIAL VAGINOSIS PANEL

Pharmacogenetics (PGx) Genetic Testing Panels

PHARMACOGENETICS (PGX) | Cardiac

SPECIMEN: 2 BUCCAL SWABS

CONTAINER: PURITAN PURFLOCK ULTRA (REF 25-3306-U)

MINIMUM VOLUME: 2 BUCCAL SWABS

TRANSPORT: ROOM TEMPERATURE. AFTER SWABBING EACH CHEEK RETURN THE SWABS TO THEIR ORIGINAL PACKAGING. MAKE SURE TO INCLUDE TWO UNIQUE PATIENT IDENTIFIERS ON EACH SWAB PACKAGE.

THIS PANEL INCLUDES THE PHARMACOGENETICS – CARDIAC

CYP2C9CYP2D6, CYP3A4, CYP3A5, FACTOR II, FACTOR V LEIDEN, MTHFR, SLC01B1, VKORC1

PARHMACOGENETICS (PGx) | Comprehensive

SPECIMEN: 2 BUCCAL SWABS

CONTAINER: PURITAN PURFLOCK ULTRA (REF 25-3306-U)

MINIMUM VOLUME: 2 BUCCAL SWABS

TRANSPORT: ROOM TEMPERATURE. AFTER SWABBING EACH CHEEK RETURN THE SWABS TO THEIR ORIGINAL PACKAGING. MAKE SURE TO INCLUDE TWO UNIQUE PATIENT IDENTIFIERS ON EACH SWAB PACKAGE.

THIS PANEL INCLUDES THE PHARMACOGENETICS- COMPREHENSIVE

ANKK1/DRD2, BDNF, COMT, CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, Factor II, Factor V Leiden, MTHFR, OPRM1, SLC01B1, VKORC1

PHARMACOGENETICS (PGx) | Pain Management

SPECIMEN: 2 BUCCAL SWABS

CONTAINER: PURITAN PURFLOCK ULTRA (REF 25-3306-U)

MINIMUM VOLUME: 2 BUCCAL SWABS

TRANSPORT: ROOM TEMPERATURE. AFTER SWABBING EACH CHEEK RETURN THE SWABS TO THEIR ORIGINAL PACKAGING. MAKE SURE TO INCLUDE TWO UNIQUE PATIENT IDENTIFIERS ON EACH SWAB PACKAGE.

THIS PANEL INCLUDES THE PHARMACOGENETICS – PAIN MANAGEMENT:

COMT, CYP1A2, CYP2B6, CYP2C19, CYP2C9 ,CYP2D6, CYP3A4, CYP3A5, OPRM1

PHARMACOGENETICS (PGx) | Peri-Operative

SPECIMEN: 2 BUCCAL SWABS

CONTAINER: PURITAN PURFLOCK ULTRA (REF 25-3306-U)

MINIMUM VOLUME: 2 BUCCAL SWABS

TRANSPORT: ROOM TEMPERATURE. AFTER SWABBING EACH CHEEK RETURN THE SWABS TO THEIR ORIGINAL PACKAGING. MAKE SURE TO INCLUDE TWO UNIQUE PATIENT IDENTIFIERS ON EACH SWAB PACKAGE.

THIS PANEL INCLUDES THE PHARMACOGENETICS – PERI-OPERATIVE:

CYP2C19, CYP2C9, CYP2D6, Factor II, Factor V Leiden, MTHFR, OPRM1, VKORC1.

PHARMACOGENETICS (PGx) | Psychiatry

SPECIMEN: 2 BUCCAL SWABS

CONTAINER: PURITAN PURFLOCK ULTRA (REF 25-3306-U)

MINIMUM VOLUME: 2 BUCCAL SWABS

TRANSPORT: ROOM TEMPERATURE. AFTER SWABBING EACH CHEEK RETURN THE SWABS TO THEIR ORIGINAL PACKAGING. MAKE SURE TO INCLUDE TWO UNIQUE PATIENT IDENTIFIERS ON EACH SWAB PACKAGE.

THIS PANEL INCLUDES THE PHARMACOGENETICS – PSYCHIATRY

ANKK1/DRD2, BDNF, COMT, CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, MTHFR.

AMPLIS™ DEPRESSION MEDICATION GUIDANCE TEST

AMPLIS

Antidepressant Guidance


Genes Analyzed1,2:

ABCB1, ABCC1, UGT1A1

Test Description:

AMPLIS is best in class pharmacogenetic guidance for Anti-Depressant selection. RCT1 and concordance2 studies both indicate Amplis may greatly increase remission rates with first drug selected through the proprietary combinatorial algorithm based on the understanding of Auto-Binding Cassette and Uridyl-Glucuronosyltransferase systems. In addition to the power of this algorithm, AMPLIS offers LuminusLive for an understanding of medications, their interactions and genetic influences in addition to a portal for virtual medication changes which can be analyzed in a matter of minutes. Co-existing morbidities can be efficiently treated while reducing risk to the patient for ADRs, Anti-cholinergic burden, Life style implications and genetic influences with up to the minute recommendations based on twice-daily scraping of over 6000 entries performed by Artificial Intelligence with respect to each tested genetic pathway and over 36,000 medications, herbals and OTC products along with current live-market pricing of each medication considered.

  • Agomelatine(Valdoxan®)
  • Amitriptyline (Elavil®)
  • Bupropion (Wellbutrin®)
  • Citalopram(Celexa®)
  • Clomipramine (Anafranil®)
  • Duloxetine (Cymbalta®)
  • Desvenlaxafine (Pristiq®)
  • Escitalopram (Lexapro®)
  • Fluoxetine (Prozac®)
  • Fluvoxamine (Luvox®)
  • Levomilnacipran (Fetzima®)
  • Mirtazapine (Remeron®)
  • Nortriptyline (Pamelor®)
  • Paroxetine (Paxil®)
  • Reboxetine (Edronax®)
  • Sertraline (Zoloft®)
  • Trazadone (Desyrel®)
  • Venlafaxine (Effexor®)
  • Vilazodone (Viibryd®)
  • Vortioxetine(Trintellix®)

  1. Improved Antidepressant Remission in Major Depression via a Pharmacokinetic Pathway Polygene Pharmacogenetic Report. Clin Psychopharmacol Neurosci. 2015;13(2):150-6.
  2. Bousman, C. A., Müller, D. J., Ng, C. H., Byron, K., Berk, M., & Singh, A. B. (2016). Concordance between actual and pharmacogenetic predicted desvenlafaxine dose needed to achieve remission in major depressive disorder: a 10-week open-label study. Pharmacogenetics and genomics, 27(1), 1-6.


SSRI Antidepressants

Genes Analyzed3:

COMT, CYP1A2, CYP3A4, CYP3A5, CYP2D6, CYP2C19

Drug Class Description:

Selective serotonin reuptake inhibitors (SSRIs) are prescribed to treat various psychiatric conditions, including depression, anxiety and personality disorders. SSRIs act by blocking the serotonin (5-HT) receptors in the brain. Suboptimal responses can delay the use of effective medications and remission of symptoms. Genetic differences can play an important role in determining patient responses.

  • Citalopram
  • Escitalopram
  • Fluoxetine
  • Fluvoxamine
  • Paroxetine
  • Sertraline
  • Vilazodone

3  Please visit http://www.pharmgkb.org for full list of pathways


SNRI Antidepressants

Genes Analyzed3:

CYP2C19, CYP2D6, CYP3A4

Drug Class Description:

Serotonin and norepinephrine reuptake inhibitors (SNRIs) such as duloxetine, levomilnacipran and venlafaxine are primarily indicated for the treatment of major depressive disorder (MDD). Some SNRIs are also prescribed to treat anxiety disorders and neuropathic pain. SNRIs, like SSRIs, are second-generation antidepressants that are better tolerated than first-generation antidepressants such as tricyclic antidepressants (TCAs) and monoamine oxidase inhibitors (MAOIs).

  • Duloxetine
  • Levomilnacipran
  • Venlafaxine

3  Please visit http://www.pharmgkb.org for full list of pathways


TCA Antidepressants

Genes Analyzed3:

CYP1A2, CYP2C19, CYP2D6, CYP3A4

Drug Class Description:

Tricyclic antidepressants (TCAs) are prescribed to treat depression and various other psychiatric conditions. TCAs act by blocking the neuronal uptake of norepinephrine and serotonin; the binding of TCAs to cholinergic, alpha-adrenergic, serotonin and histamine receptors contributes to various side effects.

  • Amitriptyline
  • Clomipramine
  • Desipramine
  • Doxepin
  • Imipramine
  • Nortriptyline
  • Protriptyline
  • Trimipramine

3  Please visit http://www.pharmgkb.org for full list of pathways


Other Antidepressants

Genes Analyzed3:

CYP2D6, CYP3A4, CYP2B6

Drug Class Description:

Other antidepressants that are used to treat depression and anxiety disorders include: Bupropion – a norepinephrine and dopamine reuptake inhibitor (NDRI) and a non-competitive antagonist of the nicotine receptors; Buspirone – an anti-anxiety medication unrelated to benzodiazepines; Mirtazapine – a commonly prescribed second-generation tetracyclic antidepressant that inhibits adrenergic alpha2-autoreceptors and serotonin 5-HT2 and 5-HT3 receptors; nefazodone – a phenylpiperazine antidepressant not related to SSRIs, TCAs and monoamine oxidase inhibitors, and blocks the serotonin 5-HT2 receptors; trazodone – a serotonin antagonist and a serotonin reuptake inhibitor (SARI) related to nefazodone; vortioxetine – a multimodal antidepressant that can be a useful alternative to serotonergic antidepressants for some patients who are partial responders or non-responders.

  • Bupropion
  • Buspirone
  • Mirtazapine
  • Nefazodone
  • Trazodone
  • Vortioxetine

3  Please visit http://www.pharmgkb.org for full list of pathways

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REQUISITIONS / REPORTS

PGx REQUISITION (AMPLIS™)
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PGx SAMPLE COMPREHENSIVE REPORT
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AMPLIS™ SAMPLE REPORT
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