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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