Genetics: More Than 23 and Me
|
|
- Janel Hopkins
- 5 years ago
- Views:
Transcription
1 Genetics: More Than 23 and Me Stephanie J. Offord, FNP-BC, AGN-BC, MSN Gina Lewis, CPNP-PC, MSN Suzanne Ducett, BSN, RN Interactive questions in presentation. Text NPGENETICS123 to once to join
2 DISCLOSURE
3
4
5
6
7
8 Objectives Why Genetics is relevant in Medicine State of Genetics Children s Hospital of WI clinic model Genetics relevance for all Nurses The ABCs of Genetics Central dogma of genetics Basics of genetic testing Inheritance Patterns and Pedigrees Genetics referrals and resources Future of Genetics Direct to Consumer Testing Pharmacogenomics
9 Why is Genetics Relevant?
10 Genetics in Medicine Diagnosis Prevention Treatment
11 Former President Obama announced Precision Medicine Initiative
12 Precision Medicine An emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person NIH Precision Medicine Initiative
13 Genetics vs Genomics Genetics refers to the study of single genes and inherited characteristics Genomics is the study of the function and combined influence of all genetic sequences World Health Organization, 2015
14 State of Genetics Critical Shortage
15 Who are Geneticists and Genetic Counselors? Geneticist Board certified physician in Genetics Genetic counselor Master of Science in Genetic Counseling Genetic counselors receive special training in two areas - genetics and counseling
16 Children s Hospital of Wisconsin Genetics Model
17 What is a Nurse Clinician? The Clinician has advanced clinical knowledge and skill to partner with members of the healthcare team to assess, plan and provide nursing care to individuals and groups. The Clinician is a recognized resource and consultant to healthcare providers, within Children s Hospital and Health System (CHHS) and the community at large. -Children s Hospital of Wisconsin
18 How do you achieve advanced clinical knowledge? Comprehensive 9 week genetic education alongside the Nurse Practitioners Attend conferences yearly Seek out individual education where needed (Metabolic University, attend Conferences) Participate in monthly Journal clubs Attend registry meetings IRB certification (Research) Grand rounds weekly
19 Why was there a need to bring a Nurse Clinician into Genetics? The Genetic Counselors out of necessity were working out of their scope of practice in regards to medication management, triaging of medical illnesses, and overall general medical management The new model was bringing four additional Nurse Practitioners on board necessitating an increase in support to their role
20 Role of the Genetics Nurse Clinician Two Nurse Clinicians support the clinic Involved with clinic visits in conjunction with Physicians, Nurse Practitioners, Genetic Counselors, and Registered Dieticians Large volume of medication management-as well as infusion management Phone triage Assist with punch biopsies Prior-Authorizations Aide in the planning of NF symposiums Coordinate muscle biopsy rounds Participate in ongoing research projects Trouble shoot everything and anything!
21 Types of Clinics within Genetics Connective Tissue General Genome Metabolic RASopathies (ie; NF & Noonan syndrome) Research Achondroplasia Connective Tissue Fabry Disease
22 How does this impact you?
23 Genetics in Practice Cardiology Infectious Disease Heme/ Onc Pharma Pulm Neurology Renal Rheum GI
24 Lack of Genetic Training Studies over the last 15 years showed little change in the knowledge levels of nurses in genetics and genomics. Journal for Nurses in Professional Development 2017 No discipline has evolved more quickly than genomics, and so many nurses and NPs report feeling ill-prepared to engage because they believe their baseline preparation and knowledge is weak. The Nurse Practitioner 2014
25 Objectives Why Genetics is relevant in Medicine State of Genetics Children s Hospital of WI clinic model Genetics relevance for all Nurses The ABCs of Genetics Central dogma of Basics of genetic testing genetics Inheritance Patterns and Pedigrees Genetics referrals and resources Future of Genetics Direct to Consumer Testing Pharmacogenomics
26 DNA RNA Proteins
27
28
29
30
31 DNA RNA Proteins
32 What s in the code
33 What s in the code?
34 Genetic Testing
35
36
37 Karyotype (Chromosome Analysis) Detects numerical chromosomal differences Detects large chromosomal rearrangements
38 Fluorescence In Situ Hybridization (FISH) Quicker detection of numerical chromosomal differences Utilizes Probes to detect small changes
39 Possible Chromosomal Variations
40 Chromosome Variations May Involve: Changing the structure of a chromosome The loss or gain of part of a chromosome Types of Variations Deletion Duplication Inversion Translocation Nondisjunction
41 Deletion
42 Duplication Occurs when a gene sequence is repeated
43 Inversion Occurs when a part of a chromosome is flipped upside down
44 Involves two chromosomes that aren t homologous Part of one chromosome is transferred to another chromosome Translocation
45 Nondisjunction Failure of chromosomes to separate during meiosis
46 Chromosome Microarray Detects deletions and duplications
47 Possible Results Pathogenic Disease-causing The copy number variant identified is known to cause a genetic condition Benign Harmless The copy number variant does not cause disease Variant of Uncertain Significance Copy number variants with too little data to classify as either pathogenic or benign It is unknown whether this copy number variant causes a medical condition
48 Why is a microarray important?
49 Single Gene Testing Single genes can be tested with a variety of methodologies
50 Multigene Panel
51
52 Exome vs Genome Sequencing Whole exome sequencing scans all of the EXONS of all genes looking for DNA variants Whole genome sequencing scans ALL of the genetic code
53 Cell-Free Fetal DNA Prenatal screen that utilizes fetal DNA circulating in maternal blood from placental cells
54
55 Inheritance Patterns and Pedigrees
56 Autosomal Dominant Inheritance
57 Autosomal Recessive Inheritance
58 X-Linked Recessive Inheritance
59 Mitochondrial Inheritance
60 Objectives Why Genetics is relevant in Medicine State of Genetics Children s Hospital of WI clinic model Genetics relevance for all Nurses The ABCs of Genetics Central dogma of genetics Basics of genetic testing Inheritance Patterns and Pedigrees Genetics referrals and resources Future of Genetics Direct to Consumer Testing Pharmacogenomics
61 Reasons for a Genetics referral Multiple congenital anomalies Developmental delay Autism Dysmorphic facial features Unusual growth pattern Overgrowth, short stature, or hemihyperplasia Family History Consanguinity Cognitive delays, developmental disability, inherited disorder, birth defects, or early deaths
62 Genetics Resources GeneReviews Online Mendelian Inheritance in Man (OMIM) Genetic and Rare Diseases Information Center (GARD) Genetics Home Reference Unique
63 Genetics Facilities National Society of Genetic Counselors American College of Medical Genetics MG/ISGweb/FindaGeneticService.aspx Genetic Testing
64 Objectives Why Genetics is relevant in Medicine State of Genetics Children s Hospital of WI clinic model Genetics relevance for all Nurses The ABCs of Genetics Central dogma of genetics Basics of genetic testing Inheritance Patterns and Pedigrees Genetics referrals and resources Future of Genetics Direct to Consumer Testing Pharmacogenomics
65
66 Direct to Consumer Testing
67 Direct to Consumer Testing Companies that sell genetic testing directly to a patient independent of their physician Can inform on medical conditions accidentally or give false reassurance This is not full gene sequencing
68 Direct to Consumer Testing Biocompatibility Testing HLA Testing Neurocompatibility Testing Serotonin Transporter Psychological Compatibility Questionnaire
69 Direct to Consumer Testing
70 What s the harm? What can it tell me about my health? Nothing!!! This is not full testing Can offer false reassurance Cannot take test results to a provider for interpretation.
71 MTHFR Methylenetetrahydrofolate reductase gene The MTHFR gene is involved in the folate metabolism pathway Once upon a time, variants in the MTHFR gene were thought to be linked to more than 400 diseases, but the mainstream scientific community now thinks otherwise. Current scientific literature indicates that the impact of the two common MTHFR variants (C677T and A1298C) is minimal and clinically insignificant. In the US up to 40% of white and Hispanic individuals have one copy of the C677T variant. Up to 20% of the population have two copies of the C677T variant
72 What impact does this have on Direct to Consumer testing? Although research has supported that the test for MTHFR is not very useful, it has become a popular test for naturopaths, homeopaths, and alternative medicine companies. Several direct-to-consumer DNA testing labs screen for MTHFR variations. Supplement companies and alternative medicine maintain that MTHFR variations could be the key to everything from fatigue, blood clotting disorders, Alzheimer s, to schizophrenia & cancer.
73 Our Thoughts Despite lots of research and lots of buzz the existing scientific data doesn t support the vast majority of claims that common MTHFR variants impact human health. Based on the existing data, scientists at 23andMe have concluded that people should not interpret their genotypes at the common MTHFR variants as having an effect on their health.
74 Pharmacogenomics
75 Pharmacogenetics Study of how a person s genetic makeup can affect their response to a drug. Used to help decide appropriate treatment for each individual Choosing a drug more likely to work Avoiding drugs with side effects Adjusting the dose of a drug Need for closer monitor
76 Pharmacogenomics
77 CYP enzymes
78 Sample Results Right Patient Right Drug (RPRD) 1200 genes (not all listed on the report) 95% of data is not on report Table 1 Considered medically actionable Evidence based guidelines Clinical Pharmacogenetics Implementation Consortium
79 Table 2 Clinically relevant variants of interest Evidence that these genes play a role in medication metabolism No evidence based guidelines Sample Results
80 Sample Results Table 3 Known pharmacogenetic functions No CPIC guidelines or other treatment guidelines Emerging as potential genes
81 Limitations of Pharmacogenomics One single pharmacogenetic test cannot be used to determine response to all medications One medication in one pathway Only available for a small subset of medications Reimbursement for testing and counseling is limited Field of pharmacogenomics is still in its infancy Only 4-5 pharmacy schools in the country have residencies in pharmacogenomics MCW is working on adding pharmacogenomics to curriculum
82 Thank You
83 Questions
84
What s the Human Genome Project Got to Do with Developmental Disabilities?
What s the Human Genome Project Got to Do with Developmental Disabilities? Disclosures Neither speaker has anything to disclose. Phase Two: Interpretation Officially started in October 1990 Goals of the
More informationCURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi
2 CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE Dr. Bahar Naghavi Assistant professor of Basic Science Department, Shahid Beheshti University of Medical Sciences, Tehran,Iran 3 Introduction Over 4000
More informationSharan Goobie, MD, MSc, FRCPC
Sharan Goobie, MD, MSc, FRCPC Chromosome testing in 2014 Presenter Disclosure: Sharan Goobie has no potential for conflict of interest with this presentation Objectives Review of standard genetic investigations
More informationCHROMOSOMAL MICROARRAY (CGH+SNP)
Chromosome imbalances are a significant cause of developmental delay, mental retardation, autism spectrum disorders, dysmorphic features and/or birth defects. The imbalance of genetic material may be due
More informationSNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY.
SAMPLE REPORT SNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY. RESULTS SNP Array Copy Number Variations Result: LOSS,
More informationCorporate Medical Policy
Corporate Medical Policy Invasive Prenatal (Fetal) Diagnostic Testing File Name: Origination: Last CAP Review: Next CAP Review: Last Review: invasive_prenatal_(fetal)_diagnostic_testing 12/2014 3/2018
More informationIntroduction to Evaluating Hereditary Risk. Mollie Hutton, MS, CGC Certified Genetic Counselor Roswell Park Comprehensive Cancer Center
Introduction to Evaluating Hereditary Risk Mollie Hutton, MS, CGC Certified Genetic Counselor Roswell Park Comprehensive Cancer Center Objectives Describe genetic counseling and risk assessment Understand
More informationGenetics and Genetic Testing for Autism:
STAR Training 2/22/2018 Genetics and Genetic Testing for Autism: Demystifying the Journey to Find a Cause Alyssa (Ah leesa) Blesson, MGC, CGC Certified Genetic Counselor Center for Autism and Related Disorders
More informationGenetic Testing 101: Interpreting the Chromosomes
Genetic Testing 101: Interpreting the Chromosomes Kristin Lindstrom, MD Division of Genetics and Metabolism Phoenix Children s Hospital AzAAP Pediatrics in the Red Rocks I have no disclosures for this
More informationChallenges of CGH array testing in children with developmental delay. Dr Sally Davies 17 th September 2014
Challenges of CGH array testing in children with developmental delay Dr Sally Davies 17 th September 2014 CGH array What is CGH array? Understanding the test Benefits Results to expect Consent issues Ethical
More informationThe University of Arizona Pediatric Residency Program. Primary Goals for Rotation. Genetics
The University of Arizona Pediatric Residency Program Primary Goals for Rotation Genetics 1. GOAL: Understand the role of the pediatrician in preventing genetic disease, and in counseling and screening
More informationSNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY.
SAMPLE REPORT SNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY. RESULTS SNP Array Copy Number Variations Result: GAIN,
More informationGenetic Conditions and Services: An Introduction
Genetic Conditions and Services: An Introduction Jennifer Roberts, MC, MS, CGC Laboratory Genetics Counselor The Children s Mercy Hospital, 2017 Goals Determine which children/families may benefit from
More informationWhat is New in Genetic Testing. Steven D. Shapiro MS, DMD, MD
What is New in Genetic Testing Steven D. Shapiro MS, DMD, MD 18th Annual Primary Care Symposium Financial and Commercial Disclosure I have a no financial or commercial interest in my presentation. 2 Genetic
More informationGenomics for Rare Diseases
Genomics for Rare Diseases Gemma Chandratillake & Karola Rehnström East of England NHS Genomic Medicine Centre 21 st March 2018 Overview The genetic basis of rare disease Why is it useful to know the genetic
More informationGENETICS ROTATION OBJECTIVES MATERNAL-FETAL MEDICINE FELLOWSHIP
GENETICS ROTATION OBJECTIVES MATERNAL-FETAL MEDICINE FELLOWSHIP University of New Mexico 1. General Description: UNM MFM fellows rotate through genetics during their PGY5 and PGY7 years. The PGY5 fellow
More informationGenetics update and implications for (General) Practice
Genetics update and implications for (General) Practice May 12 th 2018 Women s Health Symposium Clearwater Estate Dr Kate Gibson MB BCh, MRCP, FRACP Topics NZ Clinical Genetics delivery New Technologies
More informationAMERICAN BOARD OF MEDICAL GENETICS AND GENOMICS
AMERICAN BOARD OF MEDICAL GENETICS AND GENOMICS Logbook Guidelines for Certification in Clinical Genetics and Genomics for the 2017 Examination as of 10/5/2015 Purpose: The purpose of the logbook is to
More informationAssociation for Molecular Pathology Promoting Clinical Practice, Basic Research, and Education in Molecular Pathology
Association for Molecular Pathology Promoting Clinical Practice, Basic Research, and Education in Molecular Pathology 9650 Rockville Pike, Bethesda, Maryland 20814 Tel: 301-634-7939 Fax: 301-634-7990 Email:
More informationTalking Genomes with Your Patients. Meagan Cochran, MS, CGC Certified Genetic Counselor HudsonAlpha Institute for Biotechnology
Talking Genomes with Your Patients Meagan Cochran, MS, CGC Certified Genetic Counselor HudsonAlpha Institute for Biotechnology Objectives Review the importance of physician familiarity with genomic testing
More informationChromosomes and Human Inheritance. Chapter 11
Chromosomes and Human Inheritance Chapter 11 11.1 Human Chromosomes Human body cells have 23 pairs of homologous chromosomes 22 pairs of autosomes 1 pair of sex chromosomes Autosomes and Sex Chromosomes
More informationIntegrating the Latest in Genomic Science into Modern Medical Practice
Integrating the Latest in Genomic Science into Modern Medical Practice Mayo Clinic Center for Individualized Medicine Datapalooza DC, 2017 4/21/2017 1 My Genome is an iron overloaded, lipid accumulating,
More informationGenetic Counselling in relation to genetic testing
Genetic Counselling in relation to genetic testing Dr Julie Vogt Consultant Geneticist West Midlands Regional Genetics Service September 2016 Disclosures for Research Support/P.I. Employee Consultant Major
More informationEpilepsy Genetics Service Kings College Hospital & St Thomas s Hospital, London
Epilepsy Genetics Service Kings College Hospital & St Thomas s Hospital, London Epilepsy Genetics Service Kings College Hospital & St Thomas s Hospital, London Epilepsy Genetics Team Professor Deb Pal
More informationGenetic Testing for Single-Gene and Multifactorial Conditions
Clinical Appropriateness Guidelines Genetic Testing for Single-Gene and Multifactorial Conditions EFFECTIVE DECEMBER 1, 2017 Appropriate.Safe.Affordable 2017 AIM Specialty Health 2069-1217 Table of Contents
More informationGENETIC TESTING AND COUNSELING FOR HERITABLE DISORDERS
Status Active Medical and Behavioral Health Policy Section: Laboratory Policy Number: VI-09 Effective Date: 03/17/2014 Blue Cross and Blue Shield of Minnesota medical policies do not imply that members
More informationMultiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016
Multiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016 Marwan Tayeh, PhD, FACMG Director, MMGL Molecular Genetics Assistant Professor of Pediatrics Department of Pediatrics
More informationPedigree Analysis. Genetic disorders. Dominant inheritance. Recessive inheritance. Autosomal vs. sex-linked traits. X-linked recessive inheritance
Genetic disorders 4.2 Errors During Meiosis 5.3 Following Patterns of Human nheritance Pedigree Analysis 2005 Lee Bardwell Autosomal vs. sex-linked traits Autosomal traits are caused by genes on autosomes
More informationPractical challenges that copy number variation and whole genome sequencing create for genetic diagnostic labs
Practical challenges that copy number variation and whole genome sequencing create for genetic diagnostic labs Joris Vermeesch, Center for Human Genetics K.U.Leuven, Belgium ESHG June 11, 2010 When and
More informationGenetic Considerations in Young Children with Developmental Delays
Early Intervention Training Program at the University of Illinois at Urbana-Champaign presents Genetic Considerations in Young Children with Developmental Delays The webinar will begin at (1:30 PM CST).
More informationNew Advances in Psychiatric Genetics Joseph Shen, M.D., Ph.D. Aisha Furqan, LCGC Clinical Genetics UCSF-Fresno Community Regional Medical Center
New Advances in Psychiatric Genetics Joseph Shen, M.D., Ph.D. Aisha Furqan, LCGC Clinical Genetics UCSF-Fresno Community Regional Medical Center Background Genetic testing Treatment options: Pharmacogenetics
More informationChapter 1 : Genetics 101
Chapter 1 : Genetics 101 Understanding the underlying concepts of human genetics and the role of genes, behavior, and the environment will be important to appropriately collecting and applying genetic
More informationClinical evaluation of microarray data
Clinical evaluation of microarray data David Amor 19 th June 2011 Single base change Microarrays 3-4Mb What is a microarray? Up to 10 6 bits of Information!! Highly multiplexed FISH hybridisations. Microarray
More informationThe Living Environment Unit 3 Genetics Unit 11 Complex Inheritance and Human Heredity-class key. Name: Class key. Period:
Name: Class key Period: Chapter 11 assignments Pages/Sections Date Assigned Date Due Topic: Recessive Genetic Disorders Objective: Describe some recessive human genetic disorders. _recessive_ alleles are
More informationGenetic Counseling & Testing. Courtney Eddy, MS, LCGC, MT(ASCP) Licensed & Certified Genetic Counselor
Genetic Counseling & Testing Courtney Eddy, MS, LCGC, MT(ASCP) Licensed & Certified Genetic Counselor What will you hear today? Description of genetic counseling & genetic counselors Description of a typical
More informationEvolution of Genetic Testing. Joan Pellegrino MD Associate Professor of Pediatrics SUNY Upstate Medical University
Evolution of Genetic Testing Joan Pellegrino MD Associate Professor of Pediatrics SUNY Upstate Medical University Genetic Testing Chromosomal analysis Flourescent in situ hybridization (FISH) Chromosome
More informationIntroduction to Fetal Medicine: Genetics and Embryology
Introduction to Fetal Medicine: Genetics and Embryology Question: What do cancer biology, molecular biology, neurobiology, cell biology developmental biology and reproductive biology, all have in common?
More informationAmerican Psychiatric Nurses Association
Francis J. McMahon International Society of Psychiatric Genetics Johns Hopkins University School of Medicine Dept. of Psychiatry Human Genetics Branch, National Institute of Mental Health* * views expressed
More informationMEDICAL GENETICS CLINICAL CARE ROTATION
Medical Genetics Clinical Care Rotation 1 MEDICAL GENETICS CLINICAL CARE ROTATION Overview: The Medical Genetics Clinical Care Rotation (MGC) is the backbone of the clinical genetics experience for the
More informationHeard About Genetic Counseling? What Does it Mean for You, Patients, and Families?
Heard About Genetic Counseling? What Does it Mean for You, Patients, and Families? Karin M. Dent, MS, LCGC Assistant Professor, Pediatrics Thursday, August 30 12:00-12:30pm Central Time Out for Genetics
More informationIntellectual Disability Exome Panel Requisition Form
Intellectual Disability Exome Panel Requisition Form The University of Chicago Genetic Services Laboratories 5841 South Maryland Avenue, Room G701/MC0077, Chicago, IL 60637 Toll Free: 888.824.3637 Local:
More information14 2 Human Chromosomes
14-2 Human Chromosomes 1 of 25 Sex-Linked Genes Sex-Linked Genes The X chromosome and the Y chromosomes determine sex. Genes located on these chromosomes are called sex-linked genes. More than 100 sex-linked
More informationChapter 11. Chromosomes and Human Inheritance
Chapter 11 Chromosomes and Human Inheritance Human Chromosomes Human body cells have 23 pairs of homologous chromosomes 22 pairs of autosomes 1 pair of sex chromosomes Autosomesand Sex Chromosomes Paired
More informationNeurogenetics Genetic Testing and Ethical Issues
Neurogenetics Genetic Testing and Ethical Issues Grace Yoon, MD, FRCP(C) Divisions of Neurology and Clinical and Metabolic Genetics The Hospital for Sick Children Objectives 1) To recognize the ethical
More informationApproach to the Genetic Diagnosis of Neurological Disorders
Approach to the Genetic Diagnosis of Neurological Disorders Dr Wendy Jones MBBS MRCP Great Ormond Street Hospital for Children National Hospital for Neurology and Neurosurgery What is a genetic diagnosis?
More informationSNP Microarray. Prenatal
SNP Microarray Prenatal SNP Microarray Reveal SNP Microarray is a test that analyzes chromosomes for changes that can explain certain kinds of birth defects. This brochure is designed to answer some of
More informationJULY 21, Genetics 101: SCN1A. Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology
JULY 21, 2018 Genetics 101: SCN1A Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology Disclosures: I have no financial interests or relationships to disclose. Objectives 1. Review genetic
More informationMovement Disorders Requisition Form
Movement Disorders Requisition Form The University of Chicago Genetic Services Laboratories 5841 South Maryland Avenue, Room G701/MC0077, Chicago, IL 60637 Toll Free: 888.824.3637 Local: 773.834.0555 Fax:
More informationGenetics and Genomics: Applications to Developmental Disability
Tuesday, 12:30 2:00, B1 Objective: Genetics and Genomics: Applications to Developmental Disability Helga Toriello 616-234-2712 toriello@msu.edu Identify advances in clinical assessment and management of
More informationMedical Genetics in Undergraduate Medicine
Medical Genetics in Undergraduate Medicine Sandra Marles Section Leader without Separate Clerkship Overall Goal of New Genetics Curriculum To integrate teaching of genetic principles, genetic diseases
More informationGenetics in Primary Care Curriculum Statement 6. Dr Dave Harniess PCME Stockport
Genetics in Primary Care Curriculum Statement 6 Dr Dave Harniess PCME Stockport Learning Objectives Understanding of genetic component of disease Screening for genetic conditions and risk assessment in
More informationAtlas of Genetics and Cytogenetics in Oncology and Haematology
Atlas of Genetics and Cytogenetics in Oncology and Haematology Genetic Counseling I- Introduction II- Motives for genetic counseling requests II-1. Couple before reproduction II-2. Couple at risk III-
More informationThe Patient Perspective: diagnostic Exome Sequencing
1 2 Hello, I m Teresa Kruisselbrink, genetic counselor in the Center of Individualized Medicine. 3 I have nothing to disclose. 4 The title of my talk, The patient perspective; diagnostic whole exome sequencing,
More informationMedical Genetics. Consult and Referral Guidelines
Medical Genetics Consult and Referral Guidelines HDVCH has developed these consult and referral guidelines as a general reference tool to assist referring physicians with the specialty referral process.
More informationRole of Genetic Counseling in FH: What Referring Physicians Need to Know. Amy C. Sturm, MS, CGC September 21, 2013
Role of Genetic Counseling in FH: What Referring Physicians Need to Know Amy C. Sturm, MS, CGC September 21, 2013 Disclosures Nothing to disclose. 2 Introduction to the topic Who are genetic counselors?
More informationPrenatal Diagnosis: Are There Microarrays in Your Future?
Financial Disclosure UCSF Antepartum Intrapartum Management Course June 8 I have no financial relationship with any aspect of private industry Prenatal Diagnosis: Are There Microarrays in Your Future?
More informationIntroduction to Fetal Medicine: Genetics and Embryology
Introduction to Fetal Medicine: Genetics and Embryology Question: What do cancer biology, molecular biology, neurobiology, cell biology developmental biology and reproductive biology, all have in common?
More informationINTRODUCTION. Marian Reiff Impact of genome-wide testing APHA Boston 2013
Healthcare providers perspectives on the impact of genomewide testing on pediatric clinical practice: Implications for informed consent and result disclosure Marian Reiff 1,2 Rebecca Mueller 3 Surabhi
More informationDNA Basics. We are all made up of cells. Cells contain DNA, or instructions to tell our bodies how to work.
DNA Basics We are all made up of cells. Cells contain DNA, or instructions to tell our bodies how to work. DNA is packaged into structures called chromosomes. Each chromosome contains many genes and each
More informationChromosome Changes. Information for Patients and Families
12 This is only a brief guide to chromosome changes. More information can be obtained from your local regional genetics centre (www.geneticalliance.org.uk/services.htm) and from these addresses: Unique
More informationPrecision Medicine and Genetic Counseling : Is Yes always the correct answer?
Precision Medicine and Genetic Counseling : Is Yes always the correct answer? Beverly M. Yashar, MS, PhD, CGC Director, Graduate Program in Genetic Counseling Professor, Department of Human Genetics. (yashar@umich.edu)
More informationApplications of Chromosomal Microarray Analysis (CMA) in pre- and postnatal Diagnostic: advantages, limitations and concerns
Applications of Chromosomal Microarray Analysis (CMA) in pre- and postnatal Diagnostic: advantages, limitations and concerns جواد کریمزاد حق PhD of Medical Genetics آزمايشگاه پاتوبيولوژي و ژنتيك پارسه
More informationRandom Pearls in Dysmorphology and Genetics
Random Pearls in Dysmorphology and Genetics Marilyn C. Jones Professor of Clinical Pediatrics, UCSD Wellesley College, BA Columbia University P&S, MD Pediatric Residency and Fellowship in Dysmorphology,
More informationGenomics and Genetics in Healthcare. By Mary Knutson, RN, MSN
Genomics and Genetics in Healthcare By Mary Knutson, RN, MSN Clinical Objectives Understand the importance of genomics to provide effective nursing care Integrate genetic knowledge and skills into nursing
More informationChromosomal Abnormalities and Karyotypes Creating a Karyotype
Chromosomal Abnormalities and Karyotypes Creating a Karyotype The Normal Human Karyotype The normal human karyotype is composed of SEVEN groups of chromosomes A G plus the sex chromosomes X and Y. The
More information22q11.2 DELETION SYNDROME. Anna Mª Cueto González Clinical Geneticist Programa de Medicina Molecular y Genética Hospital Vall d Hebrón (Barcelona)
22q11.2 DELETION SYNDROME Anna Mª Cueto González Clinical Geneticist Programa de Medicina Molecular y Genética Hospital Vall d Hebrón (Barcelona) Genomic disorders GENOMICS DISORDERS refers to those diseases
More informationPERSONALIZED GENETIC REPORT CLIENT-REPORTED DATA PURPOSE OF THE X-SCREEN TEST
INCLUDED IN THIS REPORT: REVIEW OF YOUR GENETIC INFORMATION RELEVANT TO ENDOMETRIOSIS PERSONAL EDUCATIONAL INFORMATION RELEVANT TO YOUR GENES INFORMATION FOR OBTAINING YOUR ENTIRE X-SCREEN DATA FILE PERSONALIZED
More informationLong QT. Long QT Syndrome. A Guide for Patients
Long QT Long QT Syndrome A Guide for Patients Long QT Syndrome What is long QT syndrome? Long QT syndrome (LQTS) is a condition that affects the ability of the heart to beat (contract) regularly and efficiently.
More informationCNNH NeuroGenomics Program Peer-to-Peer Service Consent/Information Form
CNNH NeuroGenomics Program Peer-to-Peer Service Consent/Information Form WHO WEARE The Center for Neurological and Neurodevelopmental Health (CNNH) is an innovative patient- and family-centered "Specialty
More informationImportance of Clinical Information for Optimal Genetic Test Selection and Interpretation
Importance of Clinical Information for Optimal Genetic Test Selection and Interpretation Chris Miller, MS, LCGC ARUP Laboratories Learning Objectives Understand the relevance of clinical information for
More informationResult Navigator. Positive Test Result: PTEN. After a positive test result, there can be many questions about what to do next. Navigate Your Results
Result Navigator Positive Test Result: PTEN Positive test results identify a change, or misspelling, of DNA that is known or predicted to cause an increased risk for cancer. DNA is the blueprint of life
More informationHuman Heredity: The genetic transmission of characteristics from parent to offspring.
Human Heredity: The genetic transmission of characteristics from parent to offspring. Karyotype : picture of the actual chromosomes arranged in pairs, paired and arranged from largest to smallest. Human
More informationThe Chromosomal Basis of Inheritance
The Chromosomal Basis of Inheritance Factors and Genes Mendel s model of inheritance was based on the idea of factors that were independently assorted and segregated into gametes We now know that these
More information5/2/18. After this class students should be able to: Stephanie Moon, Ph.D. - GWAS. How do we distinguish Mendelian from non-mendelian traits?
corebio II - genetics: WED 25 April 2018. 2018 Stephanie Moon, Ph.D. - GWAS After this class students should be able to: 1. Compare and contrast methods used to discover the genetic basis of traits or
More informationMEDICAL GENOMICS LABORATORY. Next-Gen Sequencing and Deletion/Duplication Analysis of NF1 Only (NF1-NG)
Next-Gen Sequencing and Deletion/Duplication Analysis of NF1 Only (NF1-NG) Ordering Information Acceptable specimen types: Fresh blood sample (3-6 ml EDTA; no time limitations associated with receipt)
More informationFaravareh Khordadpoor (PhD in molecular genetics) 1- Tehran Medical Genetics Laboratory 2- Science and research branch, Islamic Azad University
Faravareh Khordadpoor (PhD in molecular genetics) 1- Tehran Medical Genetics Laboratory 2- Science and research branch, Islamic Azad University 1395 21 مشاوره ژنتیک و نقش آن در پیش گیری از معلولیت ها 20
More informationHuman Genetics Notes:
Human Genetics Notes: Human Chromosomes Cell biologists analyze chromosomes by looking at. Cells are during mitosis. Scientists then cut out the chromosomes from the and group them together in pairs. A
More informationNo mutations were identified.
Hereditary High Cholesterol Test ORDERING PHYSICIAN PRIMARY CONTACT SPECIMEN Report date: Aug 1, 2017 Dr. Jenny Jones Sample Medical Group 123 Main St. Sample, CA Kelly Peters Sample Medical Group 123
More informationMutations Quick Questions and Notes (#1) QQ#1: What do you know about mutations?
Mutations Quick Questions and Notes (#1) QQ#1: What do you know about mutations? mutation basics Definition: a change in the genetic material of a cell Note: not all mutations are bad Can occur in 2 types
More informationResult Navigator. Positive Test Result: RET. After a positive test result, there can be many questions about what to do next. Navigate Your Results
Result Navigator Positive Test Result: RET Positive test results identify a change, or misspelling, of DNA that is known or predicted to cause an increased risk for cancer. DNA is the blueprint of life
More informationFatty Acid Oxidation Disorders
Genetic Fact Sheets for Parents Fatty Acid Oxidation Disorders Screening, Technology, and Research in Genetics is a multi-state project to improve information about the financial, ethical, legal, and social
More informationCopy Number Variants of Uncertain Significance in Prenatal diagnosis Are the Goalposts Moving? Lisa Burvill-Holmes Bristol Genetics Laboratory
Copy Number Variants of Uncertain Significance in Prenatal diagnosis Are the Goalposts Moving? Lisa Burvill-Holmes Bristol Genetics Laboratory http://www.nbt.nhs.uk/genetics Microarray CGH in Prenatal
More informationApproach to Mental Retardation and Developmental Delay. SR Ghaffari MSc MD PhD
Approach to Mental Retardation and Developmental Delay SR Ghaffari MSc MD PhD Introduction Objectives Definition of MR and DD Classification Epidemiology (prevalence, recurrence risk, ) Etiology Importance
More informationMULTIPLE CHOICE QUESTIONS
SHORT ANSWER QUESTIONS-Please type your awesome answers on a separate sheet of paper. 1. What is an X-linked inheritance pattern? Use a specific example to explain the role of the father and mother in
More informationInformation for You and Your Family
Information for You and Your Family What is Prevention? Cancer prevention is action taken to lower the chance of getting cancer. In 2017, more than 1.6 million people will be diagnosed with cancer in the
More informationthorough physical and laboratory investigations fail to define the etiology of hearing loss. (2000, p. 16). In a report produced for the Maternal and
GUIDELINES FOR GENETIC EVALUATON REFERRAL The prevalence of permanent hearing loss in infants is estimated to be 2-3/1000 in the United States (Finitzo et al., 1998; Prieve et al., 2000). One or both ears
More informationPatterns of Inheritance
Patterns of Inheritance Some diseases are caused by changes in genes (mutations). Remember, there are always two copies of each gene in a person, but changes in the genes can cause some genetic diseases.
More informationLesson Overview Human Chromosomes
Lesson Overview 14.1 Human Chromosomes Human Genome To find what makes us uniquely human, we have to explore the human genome, which is the full set of genetic information carried in our DNA. This DNA
More informationLab Activity 36. Principles of Heredity. Portland Community College BI 233
Lab Activity 36 Principles of Heredity Portland Community College BI 233 Terminology of Chromosomes Homologous chromosomes: A pair, of which you get one from mom, and one from dad. Example: the pair of
More informationBenefits and pitfalls of new genetic tests
Benefits and pitfalls of new genetic tests Amanda Krause Division of Human Genetics, NHLS and University of the Witwatersrand Definition of Genetic Testing the analysis of human DNA, RNA, chromosomes,
More informationMicroarray Comparative Genomic Hybridisation (array CGH)
Saint Mary s Hospital Manchester Centre for Genomic Medicine Information for Patients Microarray Comparative Genomic Hybridisation (array CGH) An array CGH test looks for small changes in a person s chromosomes,
More informationchromosomal anomalies and mental pdf Chapter 8: Chromosomes and Chromosomal Anomalies (PDF) Chromosomal abnormalities -A review - ResearchGate
DOWNLOAD OR READ : CHROMOSOMAL ANOMALIES AND MENTAL RETARDATION FROM GENOTYPES TO NEUROPSYCHOLOGICAL PHENOTYPES OF GENETIC SYNDROMES AT HIGH INCIDENCEGENOTYPE TO PHENOTYPE PDF EBOOK EPUB MOBI Page 1 Page
More information14 1 Human Heredity. Week 8 vocab Chapter 14
Week 8 vocab Chapter 14 Vocab 1. Karyotype 5. sex-linked gene 2. sex chromosome 6. nondisjunction 3. pedigree 7. DNA fingerprinting 4. Polygenic 1 of 43 Biology Biology 2 of 43 14-1 Human Heredity 3 of
More informationPre-Implantation Genetic Diagnosis. Bradley Kalinsky, MD Amanda Kalinsky, RN, BSN
Pre-Implantation Genetic Diagnosis Bradley Kalinsky, MD Amanda Kalinsky, RN, BSN Our Clinical Vignette A young couple in the mid-to-late twenties presents to your clinic to discuss having children. The
More informationGenetic Tests and Genetic Counseling How to Analyze Your Own Genome
Genetic Tests and Genetic Counseling 02-223 How to Analyze Your Own Genome Genetic Tests for Huntington Disease Hun7ngton Disease Incurable brain disorder that runs in families Movement, cogni7ve, and
More informationEssential Questions. Basic Patterns of Human Inheritance. Copyright McGraw-Hill Education
Essential Questions How can genetic patterns be analyzed to determine dominant or recessive inheritance patterns? What are examples of dominant and recessive disorders? How can human pedigrees be constructed
More informationCounsyl Foresight Carrier Screen. Utmost confidence in every result
Counsyl Foresight Carrier Screen Utmost confidence in every result EXTENDING THE BENEFITS OF CARRIER SCREENING Elevate quality of care with expanded carrier screening (ECS) Carrier screening is used to
More informationNew and Developing Technologies for Genetic Diagnostics National Genetics Reference Laboratory (Wessex) Salisbury, UK - July 2010 BACs on Beads
New and Developing Technologies for Genetic Diagnostics National Genetics Reference Laboratory (Wessex) Salisbury, UK - July 2010 BACs on Beads Susan Gross, MD Division of Reproductive Genetics Professor
More informationResult Navigator. Positive Test Result: BMPR1A. After a positive test result, there can be many questions about what to do next. Navigate Your Results
Result Navigator Positive Test Result: BMPR1A Positive test results identify a change, or misspelling, of DNA that is known or predicted to cause an increased risk for cancer. DNA is the blueprint of life
More informationICARE Initiative. Cristi Radford, MS, CGC ICARE Outreach Coordinator
ICARE Initiative Cristi Radford, MS, CGC ICARE Outreach Coordinator Agenda Overview of ICARE History Mission Benefits Patient enrollment Website contents Questions What is ICARE? Research initiative representing
More information