Clinical Implementation of precision medicine

Bernard Esquivel MD MHA PhD Clinical Immunology & Allergies / Precision Medicine Medical GeneticsPersonalized Medicine Latin American Association- President

OBJECTIVES

• Demonstrate precision medicine presence at the clinical field

• Share real “hands on” clinical decision using a precision medicine approach

Reviewer / Researcher/ Board/Advisor

Is Pharmacogenomics a clinical reality ?

What about mental disorders…

•1. Neutropenia in patients treated with clozapine.

• 2. Steven-Johnson in patients treated with lamotrigine

• 3. Late dyskinesia, acute dystonia, metabolic Sx associated with antipsychotics

• 4. Better adherence treatment rates

Reduction in use of medical services.

Reduction in absence and disability

CASE

MEDICALRECORD

• Age: 38 yrs• Family background:

• Father: Renal failure• Mother: Hypertension. • Aunt: Ovarian Ca at 50 yrs. • Great aunt: Breast Cancer at 70 yrs.

• Medical history: Denies surgeries, chronic diseases, etc.

• Habits: Non smoker. Alcohol consumption: ocasional.

Ob/Gyn

• Menarche: 13 yrs R: 28X5.• Last pregnancy 14 yrs ago,

“normal”, female, weight 4.7 lb. Apgar 8/9

• Breastfeeding for 6 months. • Contraceptive: Contraceptive

patches for over 5 yrs.• Pap smear: 1 year ago, HPV.

• Attends at the ob/gyn

office presenting a 1 year

and a half history of a fast

growing lump at left

breast

• Physical findings: Symetrical

breasts . Solid tumor at left upper

quadrant irregular, rough, painful,

non-anchored. Size 5X5X4 cm.

Bylateral nodules

IMAGE

• Mammography: Birads 2.

• Complementary ultrasound

(Same date):o Solid tumor at left upper

quadrant 3.3 X 2.6 X 2.3 cm.

Birads 4C. Suggests directed

biopsy

INFILTRATING LOBULILLAR CARCINOMA

• Immunohistochemistry:

ER+, PR +, HER+.

TREATMENT

LEFT MODIFIED RADICAL

MASTECTOMY MADDEN

TECH

CHEMOTERAPY + TARGETED

IMMUNE THERAPY

AROMATASE INHIBITORS

FAMILIAR GENOTYPING

PGX panel

• Anesthesiology • Pain • Quimo• Etc

• BIOPSY OF TUMOR FOR GENETEST ONCOPHARMA®

RADICAL LEFT MASTECTOMYTYPE MADDEN MODIFIED

• TUMOR CELL GENOTYPING

CHEMOTHERAPY+

TRASTUZUMAB

Genetic sequencing HER2, EGFR, KRAS, BRAF, etc. from tumoral cells.

TAMOXIFEN- RALOXIFEN

RALOXIFEN

FAMILYGENOTYPING

Daughter with panel gene test ox:• Brca1 and brca2 complete gen

sequencing - non-pathogenic

• Affection of cyps and receptors in estrogenic metobolic via

Belous AR, Hachey DL, Dawling S, Roodi N, Parl FF. Cytochrome P450 1B1-mediated estrogen metabolism results in estrogen-deoxyribonucleoside

adduct formation. Cancer research. 2007;67(2):812-7