Dr. Advice: The Geneticist Is In
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1 Overview Dr. Advice: The Geneticist Is In George E Tiller, MD, PhD Regional Chief, Dept. Genetics SCPMG Introduce the Department of Genetics and Regional Genetic Services Discuss basic concepts in cell biology Review modes of inheritance and basic genetic concepts Introduce approach to genetic testing Recommend who and when to refer to genetics Learning Objectives Quickly assess patient and family history to refer patients with or at risk for genetic conditions Briefly counsel patients on benefits and what to expect with genetic risk assessment Implement correct protocols for genetic testing, considering patient s age, ethnicity and gender Provide appropriate after-care based on information identified by genetic risk Question #1 What is your clinical practice? 1) Internal medicine 2) Internal medicine subspecialty 3) Family medicine 4) Hospitalist 5) Other 1
2 Question #2 Question #3 Have you sent your local geneticist a Dr. Advice question in the past 3 months? Can you name or recognize your local geneticist or a genetic counselor? 1) Yes 2) No 1) Yes 2) No Regional Genetic Services Regional Genetic Services Who We Are Who We Are 9 clinical geneticists (MD) 32 genetic counselors (MS) Screening programs staff Admin/support staff 2
3 Where We Serve What We Do What We Do Ventura Antelope Valley Irvine Ontario Preconceptional & prenatal counseling Genetic screening: prenatal & newborn Clinical genetic services for patients of all ages Cytogenetic, biochemical & molecular diagnostic testing Educate members & health care providers on genetic issues San Marcos What We Do What We Really Do What Are Our Tools? What Are Our Tools? Easy Stuff Reassure Solve puzzles Explain why Offer options Order right lab test Influence treatment Embrace innovation Hard Stuff Give out bad news Can t solve the puzzle Can t explain why Accept patient s choices Explain lab results Realize no treatment Convince KP to buy in Patient s medical history Family medical history ( it s the pedigree, stupid! ) Thorough PE (as required) Pp-to-date web resources Cytogenetic tests Biochemical tests Molecular tests Personal experience Effective counseling 3
4 Kaiser & Garfield Watson & Crick The Human Genome Genes Are Recipes for Proteins 3 billion base pairs of DNA (6 ft) ~20,000 genes E1 E2 E3 E4 E5 E6 transcription translation 46 chromosomes 4
5 Gene Expression Function of Human Genes MLH1 Types of Genetic Disorders Chromosomal disorders: trisomies, monosomy X, deletions, duplications, translocations Single gene disorders: autosomal dominant,autosomal recessive, X- linked, mitochondrial inherited Multifactorial disorders: combination of genetic and environmental factors 47,XY+21 Chromosomal Disorders 46,XY del22q ,XXY 5
6 Autosomal Dominant Autosomal Recessive 6
7 X-linked Recessive Genetic Heterogeneity Tuberous Sclerosis * TSC1, chr 9 TSC2, chr 16 * Frequency: 1/25,000 Inheritance: autosomal dominant Features: ash-leaf spots, shagreen Patches, adenoma sebaceum; epilepsy, mental retardation, intracranial calcifications; cardiac rhabdomyoma; renal anomalies 1 o defect: tuberin (chromosome 16), or hamartin (chromosome 9) mutations Tuberous sclerosis 7
8 Allelic Heterogeneity Different mutations in the same gene can cause disease of varied severity Different mutations in the same gene can cause different clinically distinct diseases Penetrance Likelihood of developing disease due to a particular genetic mutation High: huntington s disease (100%) Moderate: breast/ovarian cancer sx (60%) Low: hemochromatosis (5%) 8
9 Genetic Testing In SCAL What Sites Good We Is Serve Genetic Testing? Establishing, confirming (or excluding!) a clinical diagnosis Refining risk for an inherited disorder Determining best treatment option ( personalized medicine ) Choices in Testing Challenges in Testing Targeted vs general Predictive vs diagnostic Degree of resolution Evolving technologies Variability among vendors Difficulty with interpretation 9
10 Genetic Sites Counseling We Serveand Testing Primary Care Provider Patient Challenges in 1 o Care Recognizing genetic disease in your patient panel Knowing when to refer to genetics (and what to expect!) Genetics Professional Other Subspecialists Utilizing molecular technology appropriately and recognizing its limitations Where Can We Improve? Accurately diagnose all members with genetic disease (refer) Improve management of members with genetic disease (integrate) Identify members at risk for genetic disease (family hx) Educate members and mds about genetic diseases Decrease morbidity and mortality??? 10
11 When to Refer? When NOT to Refer? OB: AMA, >3 miscarriages, (+) family hx Neo: birth defects, dysmorphic, abnormal newborn screens Peds: dysmorphic, developmental delay, short stature, (+) family hx IntMed/FamMed: affected with or (+) family hx of genetic disease Who s yo daddy? What s my ancestry? Molecular confirmation of clinical dx Isolated cancer >50 yr old (neg fam hx) When You re Not Sure? Genetic Help 5 The Geneticist is 11
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