Genetic Counselling in relation to genetic testing
|
|
- Austen Jackson
- 5 years ago
- Views:
Transcription
1 Genetic Counselling in relation to genetic testing Dr Julie Vogt Consultant Geneticist West Midlands Regional Genetics Service September 2016
2 Disclosures for Research Support/P.I. Employee Consultant Major Stockholder Speakers Bureau Honoraria Scientific Advisory Board No relevant conflicts of interest to declare No relevant conflicts of interest to declare No relevant conflicts of interest to declare No relevant conflicts of interest to declare No relevant conflicts of interest to declare No relevant conflicts of interest to declare No relevant conflicts of interest to declare - 2 -
3 - 3 - Outline of presentation Availability of genetic investigations Value of genetic testing Ordering genetic investigations Interpreting genetic results Communicating genetic results
4 - 4 - Availability of genetic investigations Karyotyping Microarrays Single gene tests Gene panels Exome and genome sequencing (100K)
5 Standard karyotype Microscopic Low resolution Labour intensive Subjective
6 Microarray Deletion 7q31.1q31.2 High resolution Higher throughput More accurate Cost effective 1 st line testing for DD since Mb - 6 -
7 Resolution Molecular Genetics Cytogenetics 1bp 5Kb 5Mb >10Mb DNA microarray 1mm 5 to 5,000m >5000m
8 - 8 - Next-Generation Sequencing Exact order of nucleotides in a given DNA or RNA sequence Whole Exome Sequencing (WES/ WGS) Targets the coding regions (exons) of the genome 1% of total genome (25,000 genes) Incidental / secondary findings ~1% in WES WES cheaper than Whole Genome Sequencing
9 recruited over families from around the UK and Ireland Completed array-cgh Exome sequencing ongoing variants were identified from exome sequencing and microarray analysis in each individual average 400 were rare and predicted to be protein altering de novo and segregating variants in known developmental disorder genes a diagnostic yield of 27% in 1133 undiagnosed children with developmental disorders
10 GENOMICS ENGLAND AND THE 100,000 GENOMES PROJECT Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy, through the sequencing of 100,000 genomes.
11 Value of genetic testing Confirmatory genetic diagnosis Early diagnosis and treatment Preconception / Prenatal testing Predictive genetic testing Cascade carrier testing Population screening
12 Value of genetic testing Stratify risk Opportunistic screening though incidental findings Mechanisms of disease Pharmocogenomics Identify novel therapeutic targets Effective, tailored treatments
13 Ordering genetic investigations Ordering clinician Properly trained and prepared in genetics and genomics Clinical assessment and understanding of genetic counselling essential Pedigree analysis Risk assessment Guide genetic testing Collection of most informative samples Assist with interpretation of results Clarify risk for other relatives
14 Ordering genetic investigations Incidental findings Minimum list of incidental findings Disease genes, verifiable and amenable to medical intervention Categories of variants to be reported Uncertainties: penetrance, health consequences, further investigation Ethical considerations asymptomatic children with adult onset disorders genetic results may have implications for other relatives Patient autonomy versus future potential health benefit Consult a clinical geneticist
15 Ordering genetic investigations Laboratory responsibility for analysis, interpretation, report generation, clear summary of analysis variant (1) pathogenic, (2) likely pathogenic, (3) uncertain significance, (4) likely benign, or (5) benign Patient competent to make their own health-care decisions children or significantly impaired adults teenagers and mildly impaired adults discussion and assent
16 Interpreting genetic results Definitive genetic diagnosis Pathogenic mutation Well characterised mutation Consistent with phenotype Probable genetic diagnosis Likely pathogenic mutation Consistent with clinical presentation No genetic diagnosis No genetic variant detected Genetic variants of uncertain significance (~1-5% of sequencing reports)
17 Interpreting genetic results Incidental findings ~ 1% of sequencing reports Insufficient evidence of benefits, risks, and costs of disclosing Reporting incidental findings with medical benefit Sequence variation is previously reported and is a recognized cause of the disorder Sequence variation is previously unreported and is of the type which is expected to cause the disorder Confirmatory investigation
18 Communicating genetic results Responsibility of ordering clinician Interpreting and communicating results to family Re-evaluate family and medical history Contextualise findings Appropriate surveillance for at risk
19 Clinical Examples for Discussion Karyotyping Microarrays NGS
20 Thank you for your attention Any questions?
Challenges 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 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 informationWhat 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 informationCentoXome FUTURE'S KNOWLEDGE APPLIED TODAY
CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY More genetic information requires cutting-edge interpretation techniques Whole Exome Sequencing For certain patients the combination of symptoms does not allow
More informationCentoXome FUTURE'S KNOWLEDGE APPLIED TODAY
CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY More genetic information requires cutting-edge interpretation techniques Whole Exome Sequencing For some patients, the combination of symptoms does not allow
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 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 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 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 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 informationGenetics/Genomics: role of genes in diagnosis and/risk and in personalised medicine
Genetics/Genomics: role of genes in diagnosis and/risk and in personalised medicine Lynn Greenhalgh, Macmillan Cancer and General Clinical Geneticist Cancer Genetics Service Cancer is common 1 in
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 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 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 informationGenerating Spontaneous Copy Number Variants (CNVs) Jennifer Freeman Assistant Professor of Toxicology School of Health Sciences Purdue University
Role of Chemical lexposure in Generating Spontaneous Copy Number Variants (CNVs) Jennifer Freeman Assistant Professor of Toxicology School of Health Sciences Purdue University CNV Discovery Reference Genetic
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 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 informationUnderstanding The Genetics of Diamond Blackfan Anemia
Understanding The Genetics of Diamond Blackfan Anemia Jason Farrar, MD jefarrar@ About Me Assistant Professor of Pediatrics at University of Arkansas for Medical Sciences & Arkansas Children s Hospital
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 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 informationCytogenetics 101: Clinical Research and Molecular Genetic Technologies
Cytogenetics 101: Clinical Research and Molecular Genetic Technologies Topics for Today s Presentation 1 Classical vs Molecular Cytogenetics 2 What acgh? 3 What is FISH? 4 What is NGS? 5 How can these
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 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 informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name OMIM number for disease 147920 Disease alternative names Please provide any alternative
More informationImplementation of the DDD/ClinGen OGT (CytoSure v3) Microarray
Implementation of the DDD/ClinGen OGT (CytoSure v3) Microarray OGT UGM Birmingham 08/09/2016 Dom McMullan Birmingham Women's NHS Trust WM chromosomal microarray (CMA) testing Population of ~6 million (10%)
More informationDeveloping Guidelines
Assessing Genomic Sequencing Information for Health Care Decision Making: A Workshop Developing Guidelines Howard M. Saal, M.D. Cincinnati Children s Hospital Medical Center University of Cincinnati College
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Epileptic encephalopathy, early infantile 4. OMIM number for disease 612164 Disease
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider TEST DISEASE/CONDITION POPULATION TRIAD Submitting laboratory: Birmingham RGC Approved: September 2012
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 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 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 informationWhole Exome Sequencing (WES) Whole Exome Sequencing. What Is Whole Exome Sequencing?
Whole Exome Sequencing (WES) Procedure(s) addressed by this policy: Exome (e.g., unexplained constitutional or heritable disorder or syndrome); sequence analysis Sequence analysis, each comparator exome
More informationWhole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders
Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders Policy Number: 2.04.102 Last Review: 12/2017 Origination: 12/2015 Next Review: 12/2018 Policy Blue Cross and Blue Shield of Kansas
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 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 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 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 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 informationGenetic Testing for Whole Exome and Whole Genome Sequencing
Clinical Appropriateness Guidelines Genetic Testing for Whole Exome and Whole Genome Sequencing EFFECTIVE DECEMBER 1, 2017 Appropriate.Safe.Affordable 2017 AIM Specialty Health 2067-1217 Table of Contents
More informationHow many disease-causing variants in a normal person? Matthew Hurles
How many disease-causing variants in a normal person? Matthew Hurles Summary What is in a genome? What is normal? Depends on age What is a disease-causing variant? Different classes of variation Final
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 informationInvestigating rare diseases with Agilent NGS solutions
Investigating rare diseases with Agilent NGS solutions Chitra Kotwaliwale, Ph.D. 1 Rare diseases affect 350 million people worldwide 7,000 rare diseases 80% are genetic 60 million affected in the US, Europe
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 informationA guide to understanding variant classification
White paper A guide to understanding variant classification In a diagnostic setting, variant classification forms the basis for clinical judgment, making proper classification of variants critical to your
More informationLearning Objectives. Genomic Medicine and Primary Care. Clinical Applications of Genome-Level DNA Sequencing. Molecular Medicine.
Presenter Disclosure Information 9:45 10:25am Genomic Medicine and Primary Care SPEAKER Wayne W. Grody, MD, PhD, FACMG, FCAP The following relationships exist related to this presentation: Wayne W. Grody,
More informationGenetics: More Than 23 and Me
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 22333 once to join DISCLOSURE
More informationTelephone Disclosure Visual Aid Toolkit: Panel Testing
Telephone Disclosure Visual Aid Toolkit: Panel Testing This is your visual aid toolkit that will be used during your disclosure appointment. Included in this packet are definitions and descriptions of
More informationCanadian College of Medical Geneticists (CCMG) Cytogenetics Examination. May 4, 2010
Canadian College of Medical Geneticists (CCMG) Cytogenetics Examination May 4, 2010 Examination Length = 3 hours Total Marks = 100 (7 questions) Total Pages = 8 (including cover sheet and 2 pages of prints)
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 informationMolecular Markers. Marcie Riches, MD, MS Associate Professor University of North Carolina Scientific Director, Infection and Immune Reconstitution WC
Molecular Markers Marcie Riches, MD, MS Associate Professor University of North Carolina Scientific Director, Infection and Immune Reconstitution WC Overview Testing methods Rationale for molecular testing
More informationCNV Detection and Interpretation in Genomic Data
CNV Detection and Interpretation in Genomic Data Benjamin W. Darbro, M.D., Ph.D. Assistant Professor of Pediatrics Director of the Shivanand R. Patil Cytogenetics and Molecular Laboratory Overview What
More informationDisclosures. Update on Medical Genetics for Family Practitioners. Objectives. Genetic Testing. Types of Genetic Tests. Dogma of Genetics 08/05/2018
Update on Medical Genetics for Family Practitioners Genetic Testing, Newborn Screening, and Direct to Consumer Testing Sandhya Parkash, MD, FRCPC, FCCMG Maritime Medical Genetics Service, IWK Health Centre
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 informationMOLECULAR DIAGNOSIS for X-LINKED INTELLECTUAL DISABILITY
MOLECULAR DIAGNOSIS for X-LINKED INTELLECTUAL DISABILITY Intellectual disability (ID) or mental retardation is characterized by significant limitations in cognitive abilities and social/behavioral adaptive
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 informationThe Deciphering Development Disorders (DDD) project: What a genomic approach can achieve
The Deciphering Development Disorders (DDD) project: What a genomic approach can achieve RCP ADVANCED MEDICINE, LONDON FEB 5 TH 2018 HELEN FIRTH DM FRCP DCH, SANGER INSTITUTE 3,000,000,000 bases in each
More informationClinical Genomics. Ina E. Amarillo, PhD FACMGG
Clinical Genomics Ina E. Amarillo, PhD FACMGG Associate Medical Director, Cytogenetics Lab (CaTG), Lab and Genomic Medicine Assistant Professor, Pathology and Immunology Outline Clinical Genomics Testing
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider TEST DISORDER/CONDITION POPULATION TRIAD Submitting laboratory: Exeter RGC Approved: Sept 2013 1. Disorder/condition
More informationApplication of Whole Genome Microarrays in Cancer: You should be doing this test!!
Application of Whole Genome Microarrays in Cancer: You should be doing this test!! Daynna Wolff, Ph.D. Director, Cytogenetics and Genomics Disclosures Clinical Laboratory Director and Employee, Medical
More informationGenetic Testing for the Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Genetic Testing for the Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies Policy Number: 2.04.59 Last Review: 5/2018 Origination: 5/2015 Next Review: 5/2019
More informationOverdiagnosis in Genetic Screening: Uncertainty
National Cancer Institute Overdiagnosis in Screening: Uncertainty Barbara Dunn, NCI/Division of Cancer Prevention Kathy Helzlsouer, NCI/Division of Cancer Control and Population Sciences U.S. DEPARTMENT
More informationMerging single gene-level CNV with sequence variant interpretation following the ACMGG/AMP sequence variant guidelines
Merging single gene-level CNV with sequence variant interpretation following the ACMGG/AMP sequence variant guidelines Tracy Brandt, Ph.D., FACMG Disclosure I am an employee of GeneDx, Inc., a wholly-owned
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 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 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 informationParental Interest in Genomic Sequencing of Healthy Newborns: Experiences from the BabySeq Project
Parental Interest in Genomic Sequencing of Healthy Newborns: Experiences from the BabySeq Project Richard Parad, MD, MPH, Pankaj Agrawal, MBBS MMSc, Ingrid Holm, MD, MPH, Caroline Weipert, CGC, Meghan
More informationLearning Outcomes: The following list provides the learning objectives that will be covered in the lectures, and tutorials of each week:
Course Code Course Title ECTS Credits MED-306 Medical Genetics 6 School Semester Prerequisites Medical School Spring (Semester 6) MED-103 Biology I MED-109 Biology II MED-204 Biochemistry I MED-209 Biochemistry
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Leber congenital amaurosis OMIM number for disease 204000 Disease alternative
More informationGenetic causes 90% Other causes 10% No variants are found in known genes associated with ADPKD
CLINICIAN PRODUCT SHEET Genome.One Polycystic Kidney Disease Test Genome.One offers a diagnostic genetic test for patients with polycystic kidney disease (PKD), with a focus on the most common form, autosomal
More informationThe 100,000 Genomes Project Harnessing the power of genomics for NHS rare disease and cancer patients
The 100,000 Genomes Project Harnessing the power of genomics for NHS rare disease and cancer patients Dr Richard Scott, Clinical Lead for Rare Disease Dr Nirupa Murugaesu, Clinical Lead for Cancer Four
More informationAuthor's response to reviews
Author's response to reviews Title: Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: Case report Authors:
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. 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 informationSection: Medicine Effective Date: January15, 2016 Subsection: Pathology/Laboratory Original Policy Date: December 7, 2011 Subject:
Section: Medicine Effective Date: January15, 2016 Last Review Status/Date: December 2015 Page: 1 of 22 Microarray Analysis and Next-Generation Autism Spectrum Disorder and/or Congenital Description Chromosomal
More informationClinical Interpretation of Cancer Genomes
IGENZ Ltd, Auckland, New Zealand Clinical Interpretation of Cancer Genomes Dr Amanda Dixon-McIver www.igenz.co.nz 1992 Slovenia and Croatia gain independence USA and Russia declare the Cold War over Steffi
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 informationControversies Genetic: How do I tell the patient? 4/12/12
Controversies Genetic: How do I tell the patient? 4/12/12 1 Sameer M Zuberi MD, FRCP Paediatric Neurologist Honorary Clinical Associate Professor Royal Hospital for Sick Children Glasgow, UK American Epilepsy
More informationLIST OF INVESTIGATIONS
Karyotyping: K001 K002 LIST OF INVESTIGATIONS SAMPLE CONTAINER TYPE cells For Karyotyping [Single] cells For Karyotyping [Couple] Vacutainer Vacutainer 7-8 7-8 K003 Fetal Blood Sample For Karyotyping Vacutainer
More informationDMD Genetics: complicated, complex and critical to understand
DMD Genetics: complicated, complex and critical to understand Stanley Nelson, MD Professor of Human Genetics, Pathology and Laboratory Medicine, and Psychiatry Co Director, Center for Duchenne Muscular
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Choroideremia OMIM number for disease 303100 Disease alternative names please
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Polycystic Kidney Disease, Autosomal Dominant OMIM number for disease 173900 Disease
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 informationGermline Testing for Hereditary Cancer with Multigene Panel
Germline Testing for Hereditary Cancer with Multigene Panel Po-Han Lin, MD Department of Medical Genetics National Taiwan University Hospital 2017-04-20 Disclosure No relevant financial relationships with
More informationGenomics in Public Health Vision and Goals for the Population Screening Working Group
Genomics in Public Health Vision and Goals for the Population Screening Working Group Mike Murray Jim Evans Co-chairs; IOM Action Collaborative 24 February 2017 Washington DC Intent of IOM Action Collaborative
More informationControversies in the Diagnosis of Type 1 VWD. Paula James MD, FRCPC ISLH Honolulu, Hawaii Friday, May 5, 2017
Controversies in the Diagnosis of Type 1 VWD Paula James MD, FRCPC ISLH Honolulu, Hawaii Friday, May 5, 2017 Disclosures for Paula James Research Support/P.I. Employee Consultant Major Stockholder Speakers
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 informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Amyotrophic Lateral Sclerosis 10 (ALS10) and Amyotrophic Lateral Sclerosis 6 (ALS6)
More informationNGS panels in clinical diagnostics: Utrecht experience. Van Gijn ME PhD Genome Diagnostics UMCUtrecht
NGS panels in clinical diagnostics: Utrecht experience Van Gijn ME PhD Genome Diagnostics UMCUtrecht 93 Gene panels UMC Utrecht Cardiovascular disease (CAR) (5 panels) Epilepsy (EPI) (11 panels) Hereditary
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Loeys-Dietz Syndrome OMIM number for disease 609192; 608967; 610380; 610168 Disease
More informationMP Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders
Medical Policy BCBSA Ref. Policy: 2.04.102 Last Review: 10/18/2018 Effective Date: 10/18/2018 Section: Medicine Related Policies 2.04.59 Genetic Testing for Developmental Delay/Intellectual Disability,
More informationHuman Genetic Variation Copy Number Variation
The Evolution of Laboratory Prenatal Diagnosis Lawrence D. Platt, MD Professor of Obstetrics and Gynecology David Geffen School of Medicine at UCLA Center for Fetal Medicine & Women s Ultrasound Los Angeles,
More informationGenomics in the Kidney Clinic
Genomics in the Kidney Clinic Translation, Implementation and Challenges Dr Andrew Mallett Nephrologist, RBWH & MNHHS National Director, KidGen AGHA Renal Genetics Flagship Why Kidneys? Frequency, Outcomes
More informationPersonalis ACE Clinical Exome The First Test to Combine an Enhanced Clinical Exome with Genome- Scale Structural Variant Detection
Personalis ACE Clinical Exome The First Test to Combine an Enhanced Clinical Exome with Genome- Scale Structural Variant Detection Personalis, Inc. 1350 Willow Road, Suite 202, Menlo Park, California 94025
More information100,000 genomes RD Validation and Reporting Working Groups - Overview - Dom McMullan Chair Association for Clinical Genomic Science
100,000 genomes RD Validation and Reporting Working Groups - Overview - Dom McMullan Chair Association for Clinical Genomic Science What? More Working Groups? Post January 20 th meeting Volunteers for
More informationGenetics Quality and Accreditation workshop Manchester 17 th May 2017
Genetics Quality and Accreditation workshop Manchester 17 th May 2017 Katrina Rack Oxford CEQAS What is CEQAS Types of schemes Scheme update Highlights 2016 Key recommendations CEQAS Background External
More informationCase Studies and Informed Consent. Ashley Cannon, PhD, MS, CGC Genomics Immersion Course 10/14/2015
Case Studies and Informed Consent Ashley Cannon, PhD, MS, CGC Genomics Immersion Course 10/14/2015 Case Study 1 You are studying the gene mutations in the NF1 gene in the hope of establishing genotype-phenotype
More informationManaging Moderate Penetrance
Managing Moderate Penetrance Thomas Slavin, MD, FACMG Assistant Clinical Professor, Department of Medical Oncology, Division of Clinical Cancer Genetics Program Member, Cancer Control and Population Sciences
More informationSETPEG GENETIC TESTING GUIDELINES Version 1.0, 5 th October 2017
SETPEG GENETIC TESTING GUIDELINES Version 1.0, 5 th October 2017 1. The Epilepsy Genetic Diagnostic & Counselling Service at King s Health Partners Professor Deb Pal PhD MRCP (Consultant) deb.pal@nhs.net
More informationFEP Medical Policy Manual
FEP Medical Policy Manual FEP 2.04.102 Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders Effective Date: April 15, 2017 Related Policies: 2.04.59 Genetic Testing for Developmental
More informationFEP Medical Policy Manual
FEP Medical Policy Manual Effective Date: July 15, 2018 Related Policies: None Genetic Testing for PTEN Hamartoma Tumor Syndrome Description The PTEN hamartoma tumor syndrome (PHTS) includes several syndromes
More information