APNA 29th Annual Conference Session 2026: October 29, 2015 T he - - PDF document

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APNA 29th Annual Conference Session 2026: October 29, 2015 T he Huma n Ge no me Pro je c t (1990-2003) Clinic a l Applic a tio n o f Pha rma c o g e no mic s T e sting : Co mprise d o f 20 I ntuitio ns fro m 6 c o untrie s 1 A T o o

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SLIDE 1

APNA 29th Annual Conference Session 2026: October 29, 2015 Allen 1

Clinic a l Applic a tio n o f Pha rma c o g e no mic s T e sting :

A T

  • o l fo r the Nurse Pra c titio ne r in the tre a tme nt Co -Oc c urring Diso rde rs

Pa tric ia M. Alle n, MSN PMHNP-BC Gre g Gilb e rt RN, BSN

T he Spe a ke rs ha ve no c o nflic ts o f inte re st to disc lo se

T he Huma n Ge no me Pro je c t (1990-2003)

  • Co mprise d o f 20 I

ntuitio ns fro m 6 c o untrie s1

  • 13 ye a rs to c o mple te 1
  • Co st ~ $2.7 b illo n1
  • I

de ntifie d ~ 3 b illo n b a se -pa irs1

  • I

de ntifie d ~ 20,500 huma n g e ne s1

  • 3.7 millio n ma ppe d huma n sing le

nuc le o tide po lymo rphism (SNPs)1

T he Huma n Ge no me Pro je c t Adva nc e me nts

  • F

ue le d disc o ve ry o f >1,800 dise a se g e ne s1

  • De c re a se d time to sc re e n g e ne s

suspe c te d o f c a using a n inhe rite d d ise a se to d a ys ra the r tha n ye a rs1

  • > 350 Bio te c h-b a se d pro duc ts a re

c urre ntly in c linic a l tria ls1

  • > 2,000 g e ne tic te sts fo r huma n

c o nditio ns a va ila b le 1

  • Pro vide d the sc ie nc e fo r

Pha rma c o g e no mic s & Pha rma c o g e ne tic (PGx) T e sting 1 Why do some me dic ations wor k for some patie nts, but not othe r s? On a ve ra g e , 40% o f pa tie nts who ta ke a g ive n me dic a tio n will no t re spo nd to tre a tme nt. K no wing a pa tie nt’ s g e ne tic pro file c a n he lp.2

Ge no mic va ria nc e s in a p a tie nt’ s me ta b o lic pa thwa y de te rmine ho w a pa tie nt will re spo nd to pre sc rib e d me dic a tio ns. Pha rma c o g e ne tic te sting pro vide s p hysic ia ns with insig ht into individua l g e ne tic diffe re nc e s in the ir pa tie nts' drug pro c e ssing a b ility. Arme d with this kno wle d g e , physic ia ns c o uld pre d ic t the p a tie nt’ s re spo nse to the ma jo rity o f c o mmo nly p re sc rib e d me dic a tio ns a llo wing fo r p re c isio n pre sc riptio n writing a nd b e tte r pa tie nt o utc o me s.

Wha t is Pha rma c o g e ne tic s?

Pha rma c o g e ne tic s is the stud y o f g e ne tic va ria tio ns tha t influe nc e ind ividua l re spo nse to d rug s. K no wing whe the r a pa tie nt c a rrie s a ny o f the se g e ne tic va ria tio ns c a n he lp:

  • Pre sc rib e rs ind ivid ua lize d rug the ra py3
  • De c re a se the c ha nc e fo r a d ve rse d rug e ve nts

(ADE s)3

  • Inc re a se the e ffe c tive ne ss o f d rug s.3

http:/ / www.a ma -a ssn.o rg / a ma / pub / physic ia n-re so urc e s/ me d ic a l-sc ie nc e / g e ne tic s-mo le c ula r-me d ic ine / ne ws.pa g e

“One -Size -F its-All” mo de l

  • Ave ra g e pa tie nt wa ste s $800-

$1,200/ ye a r o n me d ic a tio ns tha t d o the y d o no t re spo nd to OR the y c a nno t to le ra te . (Insura nc e Ave ra g e )

  • On a ve ra g e , a pa tie nt will ta ke 3 o r 4

d iffe re nt me d ic a tio ns b e fo re re po rting a d e q ua te sympto m re d uc tio n (Me nta l He a lth)4

  • 33%-55% Ra te o f me d ic a tio n no n-

a d he re nc e (Me nta l He a lth)4

  • On a ve ra g e , 40% o f pa tie nts who ta ke

a g ive n me d ic a tio n will no t re spo nd to tre a tme nt (Me nta l He a lth)4

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SLIDE 2

APNA 29th Annual Conference Session 2026: October 29, 2015 Allen 2

Pa tie nt Sa fe ty

Adve rse Drug E ve nts (ADEs)

  • ~850,000 ADE

s a nnua lly5

  • >125,000 ADE

d e a ths a nnua lly5

  • ~100,000 E

me rg e nc y ho spita liza tio ns a nnua lly a mo ng >65 ye a rs o ld 5

  • $289 Billio n pe r ye a r spe nt o n

ADE s5

Me dic a tio n Co mplia nc e

  • 49% sto ppe d a t 16 we e ks6
  • 59% sto ppe d a t 32 we e k6
  • “T

he Antid e pre ssa nt wa sn’ t he lping ” 6

  • “I wa s ha ving sid e

e ffe c ts” 6

Pe rso na lize d mo de l

Go a ls o f Pe rso na lize d Mo d e l

  • Re d uc tio n in ADE

s

  • Inc re a se T

he ra pe utic Re spo nse (Sta b iliza tio n time )

  • Inc re a se Me d ic a tio n

Co mplia nc e

  • Re d uc e Ove ra ll He a lthc a re

Co st (ie , RX, E R & o ffic e visits)

“Pe rso nalize d me dic ine aims to stre amline c linic al de c isio n making by using bio lo g ic al info rmatio n available thro ug h a g e ne tic te st o r bio marke r, and the n saying, ‘ base d o n this pro file , I think yo u're mo re like ly to re spo nd to Drug A o r Drug B, o r le ss like ly to have an adve rse re ac tio n with Drug C.’ T he ide a is to g e t patie nts o n the rig ht me dic atio n and to g e t the m o n it so o ne r.” – Dr. Issa m Zine h, Dir o f Clinic a l Pha rma c o lo g y, F DA

Pe rso na lize d Me dic ine Appro a c h

Wha t Ge ne s Are Ana lyze d?

  • CYP450 – Re spo nsib le fo r drug me ta b o lism
  • COMT– Re g ula te s Ca te c ho la mine Ne uro tra nsmitte rs
  • S

L C6A2 – No re pine phrine T ra nspo rt Pro te in (NE T )

  • S

L C6A4 – Se ro to nin T ra nspo rt Pro te in (SE RT )

  • HT

R2A – Se ro to nin Re c e pto r Site

  • HT

R2C – Se ro to nin Re c e pto r Site

  • OPRM1 – Mu-Opio id Re c e pto r
  • MT

HF R - K e y re g ula to ry e nzyme in the me ta b o lism o f fo la te

Cyto c hro me P450 (CYP450)

  • F

a mily o f live r e nzyme s re spo nsib le fo r me ta b o lizing ~85% o f pre sc rib e d me dic a tio ns

  • 50+ I

de ntifie d, b ut 6 a re re spo nsib le fo r re spo nsib le fo r the ma jo rity o f me ta b o lism

  • Va ria tio ns in the CYP450 c a n c a use the b o dy

to b re a k do wn drug s mo re ra pidly, o r to b re a k the m do wn mo re slo wly

  • De c re a se d drug c o nc e ntra tio n
  • I

nc re a se d drug c o nc e ntra tio n

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SLIDE 3

APNA 29th Annual Conference Session 2026: October 29, 2015 Allen 3

Clinic a l sig nific a nc e

Pa tie nt A: Ultra -Ra pid Me ta b o lize r –do se ma y ha ve little to no the ra pe utic e ffe c t6 Pa tie nt B: Po o r Me ta b o lize r –do se ma y b e to xic o r c a use ADE s6 Pa tie nt C: E xte nsive Me ta b o lize r –fa ll within the drug ’ s the ra pe utic windo w6

Se ro to nin (SE RT s) & No re pine phrine (NE T s) T ra nspo rte r Pro te ins

  • He lp to re g ula te the e ffe c t o f

ne uro tra nsmitte rs in the CNS

  • Are the ta rg e t fo r e a c h ma jo r

c la ss o f Antide pre ssa nts: SNRIs, SSRIs & T CAs

  • Muta tio ns in the SE

RT a nd NE T g e ne s c a n a lte r the e ffe c tive ne ss o f c e rta in SSRIs & SNRIs c a using a re d uc e d , slo we r o r a typic a l re spo nse to the me d ic a tio n

Re trie ve d fro m www.pha rmg kb .c o m

Se ro to nin Re c e pto rs: HT R2A a nd HT R2C

  • Wo rk a s pa rt o f a fe e db a c k lo o p

tha t re g ula te s Se ro to nin c o nc e ntra tio ns within the syna ptic c le ft

  • I

nvo lve d in the re spo nse to va rio us drug s use d to tre a t Anxie ty, De pre ssio n & Psyc ho sis

  • Muta tio ns in the HT

R2A o r HT R2C ha ve b e e n a sso c ia te d lo we r re spo nse ra te to a nd hig he r ra te o f side e ffe c ts

Re trie ve d fro m www.pha rmg kb .c o m

Ca te c ho l-O-me thyl tra nsfe ra se (COMT )

  • L
  • c a l me ta b o lizing e nzyme
  • Re g ula te s e xtra c e llula r

ne uro tra nsmitte r c o nc e ntra tio ns

  • Muta tio ns in the COMT

g e ne ha s b e e n a sso c ia te d with de c re ase d r e sponse to va rio us ADHD & Antide pre ssa nts me d ic a tio n

  • Has be e n assoc iate d with

sc hizo phre nia , d e pre ssio n, a nxie ty, a nd b ipo la r d iso rd e r.

Re trie ve d fro m www.pha rmg kb .c o m

Opio id Re c e pto r Mu-1 (OPRM1)

  • OPRM1 c o d e s fo r the Mu-Opio id

re c e pto r

  • Ma in ta rg e t o f o pio id s suc h a s

Mo rphine & F e nta nyl

  • Affe c ts me c ha nisms re la te d to pa in,
  • pio id e ffic a c y, a nd o pio id -re la te d

sid e e ffe c ts, to le ra nc e , d e pe nd e nc e & re wa rd

  • Muta tio ns in the OPRM1 g e ne c a n

de c r e ase r e sponse to c e rta in me d ic a tio ns inc lud ing Na ltre xo ne a nd Bupre no rphine

Re sults o f PGx Guide d T re a tme nt

QIDS-C16 Sc o re

  • 7.2% re d uc tio n in the ung uid e d g ro up 7
  • 31.2% re d uc tio n in the g uid e d g ro up 7

HAM-D17 ra ting s

  • 18.2% re d uc tio n in the ung uid e d g ro up 7
  • 30.8% re d uc tio n in the g uid e d g ro up 7

E c o no mic Impa c t

  • $1,036 in Rx sa ving s 7
  • $1,556 in o ffic e / E

R visits 7

  • $2,592 in to ta l a nnua l sa ving s 7

Translational Psychiatry (2012) 2, e172; doi:10.1038/tp.2012.99

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SLIDE 4

APNA 29th Annual Conference Session 2026: October 29, 2015 Allen 4

SUMMI T BEHAVI ORAL HEALTH

 Offe r a pe rso na lize d a ddic tio n se rvic e s c o ntinuum o f c a re

in PA, NJ a nd so o n MA

 Co -o c c urring Diso rde rs  Adults a nd Ado le sc e nts  Pe rso na lize d c lie nt-c e nte re d c a re  me e t the c lie nt ‘ whe re the y a re ’

CRITERIA FOR TESTING

Co-occurring diagnosis failed treatment Multiple failed trials of psychotropic medication Chronic non-adherence to drug regimen Known adverse reactions Unresolved symptoms impacting quality of life Chronic relapse

Ca se study 1

 Client is a 31 year old married female with Alcohol Use

Disorder, Anxiolytic Use Disorder, MDD, GAD.

 Hx of outpatient tx for mental health  Poor adherence d/ t adverse affects  4 prior suicide attempts (OD)  Significant family hx  Completed 10 detox, stepped down to PHP  Recent SI, passive thoughts of OD “It would be ok

if I didn’t wake –up

Treatment Course

Co -o c c urring diso rde rs Me dic a l Co mo rb iditie s: HT N , Re na l Multiple fa ile d tria ls SSRI s Una b le to wo rk, e xe c utive F a mily histo ry

I D Ge ne tix T e sting

CYP1A2 UM CYP2C9 IM CYP3A5 IM HT R2A COMT

Applic a tio n

Stoppe d L e xapr

  • Star

te d Viibr yd Disc ontinue d Xanax Star te d Clonidine

Treatment Outcomes

  • Sober 11 months
  • Mood stabilized, rates depression as “2” and anxiety as “1”
  • Reinstated drivers license
  • Back to work
  • Couples counseling, individual, aftercare group

Ca se Study 2

The client is an 18 year old male graduated from HS in June.

History of gambling, MDD, PTSD and GAD. Struggled through senior year

Hx of outpatient tx Medical co-morbidity : musculoskeletal sports related injuries,

surgery

Due to injuries unable to golf (intended major in college) 14 days inpatient r/t SI with plan to OD. Transitioned to PHP, IOP

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SLIDE 5

APNA 29th Annual Conference Session 2026: October 29, 2015 Allen 5

T re a tme nt Co urse

Co -o c c urring diso rde rs me dic a l a nd psyc hia tric F a ile d tria ls o f SSRI s F unc tio na l impa irme nts ADL s, sc ho o l c o lle g e , spo rts F a mily hx

I DGe ne tix T e sting

MT HF R 677 - me thyla tio n CYP2C9 I M CYP2C19 UM CYP3A4 PM SL C6A4 HT R2A ADRA2A

Applic a tio n

Star te d De plin Stoppe d We llbutr in Star te d Pr istiq Adde d Abilify

Treatment Outcomes

 Several slips with gambling  Depression stabilized, less anxiety, improved sleep  Continued outpatient: individual and family  1st semester in college in Florida  Increased physical activity, reconditioning  Relationship with parents improved

Case Study 3

 The client is a 49 year old married male with an Alcohol Use

Disorder MDD and GAD.

 No prior inpatient treatment  Previous outpatient treatment for depression and anxiety  Medical: HTN, congenital renal dysfunction  Admitted to inpatient for detox and SI (passive)  Transitioned to PHP - IOP

T re a tme nt Co urse

Co -o c c urring d iso rd e rs Me d ic a l Co mo rb id itie s: HT N , Re na l Multiple fa ile d tria ls SSRIs Una b le to wo rk, e xe c utive F a mily histo ry, a nxie ty

I D Ge ne tix T e sting

CYP1A2 UM CYP2C9 IM CYP3A4 IM CYP3A5 IM ADRA2A

Applic a tio n

Stoppe d Pr

  • zac

Star te d Br inte llix Inc r e ase d Br inte llix x2 Adde d Abilify E MDR

T re a tme nt Outc o me s

 2 slips o ve r 1 ye a r  K

id ne y surg e ry

 De pre ssio n in re missio n  Co ntinue s o utpa tie nt, inc re a se d e ng a g e me nt d / t a nxie ty  Me dic a tio n a djustme nts, g ro up, E MDR  Re turne d to wo rk a s b a nk vic e pre sid e nt  Anxie ty “its ma na g e a b le , fe e ling mo re like my o ld se lf”  Inc re a se d physic a l a c tivity, g o lf

Case Study 4

 The client is an 29 year old single male with a history

  • f Opiate Use Disorder, MDD, Panic Disorder with

agoraphobia

 No inpatient, Several episodes of outpatient

treatment

 Medical co-morbidity : chronic severe testicular pain  Isolated from family, unable to work

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SLIDE 6

APNA 29th Annual Conference Session 2026: October 29, 2015 Allen 6

T re a tme nt Co urse

Co -Oc c urring Diso rde rs Chro nic se ve re pa in Una b le to wo rk I mpa c t q ua lity o f life , re la tio nships, iso la tive

I DGe ne tix T e sting

CYP2C9 I M CYP2C19 UM CYP3A4 PM HT R2A OPRM1

Applic a tio n

Stoppe d be nzodiaze pine s Stoppe d Pr

  • zac

Star te d Nor tr iptyline Suboxone low dose for pain

T re a tme nt Outc o me s

 Sober 14 months  Effective use of low dose Suboxone  Depression symptoms improved, sleeping “back to normal

about 7 hours”,

 Remains engaged in outpatient group, individual  Meditation, yoga  Joined social group with guys in sober living  Working part time

Co nc lusio n, Ne xt Ste ps

 A inte g ra l to o l in o ut a rse na l o f stra te g ie s to suppo rt

re c o ve ry fo r sub sta nc e de pe nde nc e a nd c o -o c c urring diso rde rs

 Pha rma c o g e no mic s a s c o mpo ne nt o f pe rso na lize d

tre a tme nt

 F

  • ste r pa rtne rship with c lie nt, fa mily a nd e xte rna l

pro vide s

 E

xpa nding use with fo c us o n MAT

 F

  • rma lize re se a rc h

 Re duc e the lo ng sta nding stig ma o f sub sta nc e

de pe nde nc e a nd me nta l illne ss, e mpo we ring the c lie nt