Genomics in Primary Care: The Promise of Personalized Medicine
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1 Lehigh Valley Health Network LVHN Scholarly Works Department of Family Medicine Genomics in Primary Care: The Promise of Personalized Medicine Heather B. Fagan MD, MPH Brian Stello MD Lehigh Valley Health Network, Christopher V. Chambers MD Melanie B. Johnson MPA Lehigh Valley Health Network, Geoffrey Mills MD, PhD See next page for additional authors Follow this and additional works at: Part of the Primary Care Commons Published In/Presented At Fagan, H., Stello, B., Chambers, C., Johnson, M., Mills, G., & Rosenthal, M. (2013, November 1-3). The promise of personalized medicine. Presented at: The 32nd Annual 2013 FEMC Northeast Region Meeting, Philadelphia, PA. This Presentation is brought to you for free and open access by LVHN Scholarly Works. It has been accepted for inclusion in LVHN Scholarly Works by an authorized administrator. For more information, please contact
2 Authors Heather B. Fagan MD, MPH; Brian Stello MD; Christopher V. Chambers MD; Melanie B. Johnson MPA; Geoffrey Mills MD, PhD; and Michael P. Rosenthal MD This presentation is available at LVHN Scholarly Works:
3 THE PROMISE OF PERSONALIZED MEDICINE F M E C C O N F E R E N C E N O V E M B E R 1 ST 2013 P H I L A D E L P H I A, P A Chambers, CV* Mills, G Fagan, HB* Rosenthal, MP Johnson, M Stello, B* *presenters
4 BACKGROUND Whole genome sequencing Human Genome Project completed in 2003 Personalized Medicine Predictive Medicine (Risk) Pharmacogenomics Move from single gene to multiple gene Understanding of disease
5 BACKGROUND Direct to Consumer testing
6 Carrier Status (53) ARSACS * Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN) * Alpha-1 Antitrypsin Deficiency * Autosomal Recessive Polycystic Kidney Disease * BRCA Cancer Mutations (Selected) * Beta Thalassemia * Bloom's Syndrome * Canavan Disease * Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) * Connexin 26-Related Sensorineural Hearing Loss * Cystic Fibrosis * D-Bifunctional Protein Deficiency * DPD Deficiency * Dihydrolipoamide Dehydrogenase Deficiency * Factor XI Deficiency * Familial Dysautonomia * Familial Hypercholesterolemia Type B * Familial Hyperinsulinism (ABCC8-related) * Familial Mediterranean Fever * Fanconi Anemia (FANCC-related) * G6PD Deficiency * GRACILE Syndrome * Gaucher Disease * Glycogen Storage Disease Type 1a * Glycogen Storage Disease Type 1b * Hemochromatosis (HFE-related) * Hereditary Fructose Intolerance * Hypertrophic Cardiomyopathy (MYBPC3 25bp-deletion) * LAMB3-related Junctional Epidermolysis Bullosa * Leigh Syndrome, French Canadian Type (LSFC) * Limb-girdle Muscular Dystrophy * Maple Syrup Urine Disease Type 1B * Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency * Mucolipidosis IV * Neuronal Ceroid Lipofuscinosis (CLN5-related) * Neuronal Ceroid Lipofuscinosis (PPT1-related) * Niemann-Pick Disease Type A * Nijmegen Breakage Syndrome * Pendred Syndrome * Phenylketonuria * Primary Hyperoxaluria Type 2 (PH2) * Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1) * Salla Disease * Sickle Cell Anemia & Malaria Resistance * Drug Response (24) Abacavir Hypersensitivity * Alcohol Consumption, Smoking and Risk of Esophageal Cancer * Antidepressant Response Beta-Blocker Response Caffeine Metabolism Clopidogrel (Plavix ) Efficacy * Floxacillin Toxicity Fluorouracil Toxicity * Hepatitis C Treatment Side Effects Heroin Addiction Lumiracoxib (Prexige ) Side Effects Metformin Response Naltrexone Treatment Response Oral Contraceptives, Hormone Replacement Therapy and Risk of Venous Thromboembolism * Phenytoin (Dilantin ) Sensitivity (Epilepsy Drug) * Postoperative Nausea and Vomiting (PONV) Pseudocholinesterase Deficiency * Response to Hepatitis C Treatment * Response to Interferon Beta Therapy Statin Response Sulfonylurea Drug Clearance (Type 2 Diabetes Treatment) * Thiopurine Methyltransferase Deficiency * Warfarin (Coumadin ) Sensitivity * Warfarin (Coumadin ) Sensitivity: Preliminary Research Traits (60) Adiponectin Levels Alcohol Flush Reaction * Asparagus Metabolite Detection Avoidance of Errors Biological Aging Birth Weight Bitter Taste Perception * Blood Glucose Breast Morphology Breastfeeding and IQ C-reactive Protein Level Caffeine Consumption Childhood and Adolescent Growth Chronic Hepatitis B Earwax Type * Eating Behavior Eye Color * Eye Color: Preliminary Research Finger Length Ratio Food Preference Freckling HDL ("Good") Cholesterol Levels HIV Progression Hair Color Hair Curl * Hair Curl: Preliminary Research Hair Thickness Height Hypospadias Iris Patterns LDL ("Bad") Cholesterol Levels Lactose Intolerance * Leprosy Susceptibility Longevity Malaria Complications Malaria Resistance (Duffy Antigen) * Male Pattern Baldness * Male Pattern Baldness: Preliminary Research Measures of Intelligence Measures of Obesity Memory Menarche Menopause Muscle Performance *
7 Disease Risk (122) Abdominal Aortic Aneurysm Age-related Macular Degeneration * Alcohol Dependence Alopecia Areata Alzheimer's Disease * Alzheimer's Disease: Preliminary Research Ankylosing Spondylitis Asthma Atopic Dermatitis Atrial Fibrillation * Atrial Fibrillation: Preliminary Research Attention-Deficit Hyperactivity Disorder Back Pain Basal Cell Carcinoma Behçet's Disease Bipolar Disorder * Bipolar Disorder: Preliminary Research Bladder Cancer Brain Aneurysm Breast Cancer * Breast Cancer Risk Modifiers Celiac Disease * Celiac Disease: Preliminary Research Chronic Kidney Disease * Chronic Lymphocytic Leukemia Chronic Obstructive Pulmonary Disease (COPD) Cleft Lip and Cleft Palate Cluster Headaches Colorectal Cancer * Coronary Heart Disease * Coronary Heart Disease: Preliminary Research Creutzfeldt-Jakob Disease Crohn's Disease * Developmental Dyslexia Dupuytren's Disease Endometriosis Esophageal Cancer: Preliminary Research Esophageal Squamous Cell Carcinoma (ESCC) * Essential Tremor Exfoliation Glaucoma * Follicular Lymphoma Gallstones * Generalized Vitiligo Gestational Diabetes Glaucoma: Preliminary Research Gout * Gout: Preliminary Research Hashimoto's Thyroiditis Hay Fever (Allergic Rhinitis) Heart Rhythm Disorders (Arrhythmias) High Blood Pressure (Hypertension) Hodgkin Lymphoma Hypertriglyceridemia Hypothyroidism Intrahepatic Cholestasis of Pregnancy Keloid Kidney Cancer Kidney Disease Kidney Stones Larynx Cancer Lou Gehrig's Disease (ALS) Lung Cancer * Lupus (Systemic Lupus Erythematosus) * Male Breast Cancer Male Infertility Melanoma * Melanoma: Preliminary Research Meningioma Migraines Multiple Sclerosis * Myeloproliferative Neoplasms Narcolepsy Nasopharyngeal Carcinoma Neural Tube Defects Neuroblastoma Nicotine Dependence Nonalcoholic Fatty Liver Disease Obesity * Obesity: Preliminary Research Obsessive-Compulsive Disorder Oral and Throat Cancer Osteoarthritis Otosclerosis Ovarian Cancer Paget's Disease of Bone Pancreatic cancer Parkinson's Disease * Parkinson's Disease: Preliminary Research Peripheral Arterial Disease Placental Abruption Polycystic Ovary Syndrome Preeclampsia Primary Biliary Cirrhosis * Primary Biliary Cirrhosis: Preliminary Research Progressive Supranuclear Palsy Prostate Cancer * Psoriasis * Pulmonary Fibrosis Restless Legs Syndrome * Restless Legs Syndrome: Preliminary Research Rheumatoid Arthritis * Sarcoidosis Sarcoma Schizophrenia Scleroderma (Limited Cutaneous Type) * Scoliosis Selective IgA Deficiency Sjögren's Syndrome Squamous Cell Carcinoma Stomach Cancer (Gastric Cardia Adenocarcinoma) * Stomach Cancer: Preliminary Research Stroke Sudden Cardiac Arrest Tardive Dyskinesia Testicular Cancer Thyroid Cancer Tourette's Syndrome Type 1 Diabetes * Type 2 Diabetes * Ulcerative Colitis * Uterine Fibroids Venous Thromboembolism *
8 METHODS Mailed paper survey to primary care physicians 3 regional health systems Christiana Care Health System plus DAFP Jefferson Health System Lehigh Valley Health Network Introductory letter with all 3 logos $5 Wawa gift card Supported by Dean s office at TJU
9 RESULTS n = 316 Response rate 37.89% 67% Academic 33% Private
10 PARTICIPANTS DESCRIPTION (n= 316) Male 53% Age % % % % % 75 2% Specialty FM 67% IM 23% Other 10%
11 IN THE LAST 6 MONTHS HAVE YOU ORDERED GENETIC TESTING? 0% 19% No ans Yes No 81%
12 GENETIC TESTING ORDERED Testing (n) Cancer Risk 28 Prenatal 11 Other* 11 Pharmacogenomics 9 Micro array 6
13 PHYSICIAN CONFIDENCE 100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% Take a thorough family genetic history Build a family medical history pedigree chart Assess risk of hereditary disorders Order genetic testing for hereditary cancers Discuss the risks, benefits and limitations of genetic testing for hereditary cancers Counsel patients about whether or not to have genetic counseling Counsel patients about risk reduction strategies (lifestyle changes, screening, medical therapy) based on the results of genetic testing Very high confidence High confidence Somewhat confident Low confidence Not confident
14 TABLE A
15 TABLE B
16 CASE 1 A 43 year-old woman comes to you concerned about her risk for cancer. You obtain a family history and discover that her father had colorectal cancer diagnosed at age 49 and a sister diagnosed with colorectal cancer at 45 years of age.
17 HOW LIKELY WOULD YOU BE TO
18 CASE 2 A 52 year old healthy man with an unremarkable family history tells you that he has had his blood drawn for a full genetic analysis (currently commercially available for less than $5000.) He wants to bring the results in to talk to you about your recommendations.
19 HOW IMPORTANT ARE THE FOLLOWING BARRIERS TO DISCUSSING HIS RESULTS?
20 CASE 3 You are seeing a 57-year old woman with a recent DVT for warfarin management. A lab report from her recent hospitalization includes information about genomic markers relevant to warfarin metabolism.
21 YOU ARE MOST LIKELY GOING TO: Case 3 1% 6% 2% 5% No answer Consult a geneticist Consult with a colleague or anticoagulation specialist 37% 49% Do independent reading to better understand the implications of these results Initiate warfarin using a standard algorithm Other (please specify)
22 NEXT STEPS Current state of Family History data in Electronic Medical Record Availability and integration of resources at the point of care Challenge of education initiatives in real world primary care
23 USEFUL LINKS GeneTests (select GeneReviews ) : OMIM (Online Mendelian Inheritance in Man) : Genes and Disease (NCBI) (organized by parts of the body affected): Chromosomal Variation in Man: cess.html National Coalition for Health Professional Education in Genetics: http// GeneTests (select Educational Materials and Genetic Tools ): http// March of Dimes Genetics and Your Practice: http//marchofdimes.com/gyponline/index.bm2
24 THANK YOU
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