GENETIC TESTING WHY, WHEN AND WHOM. Denise Goh Li Meng

Save this PDF as:
 WORD  PNG  TXT  JPG

Size: px
Start display at page:

Download "GENETIC TESTING WHY, WHEN AND WHOM. Denise Goh Li Meng"

Transcription

1 GENETIC TESTING WHY, WHEN AND WHOM Denise Goh Li Meng Genetic Testing has become part of clinical medicine and its role will continue to grow. An awareness of the availability, advantages, limitations and interpretation of genetic testing is important to ensure its correct use and benefits to the patient. Contents Definition Why When Whom How to achieve informed consent? Accuracy of genetic tests Interpretation of results Follow up of results of genetic tests (Post- testing genetic counseling) Special issues to pay attention to 1

2 Definition Genetic tests are laboratory techniques used to determine if a person has a genetic disorder or is likely to get the disorder. In Singapore, there are many genetic tests available on a clinical basis. Clinical genetic testing is mainly physician initiated viz. a patient presents with a complaint that the physician recognizes as a possibly genetic in origin, and orders or refers the patient for genetic testing. A small proportion is patient driven and this tends to be in the area of carrier, pre-natal and pre-symptomatic diagnosis. Why? The main reasons for genetic testing are 1. to confirm a specific diagnosis in a symptomatic individual (diagnostic testing) 2. to ascertain the risk of having a particular condition in an individual who is asymptomatic at the time of the testing (predictive testing) 3. to ascertain the risk of transmitting a condition (carrier testing) 4. to ascertain the risk of a fetus having a clinically significant genetic disorder (prenatal diagnosis) When? Genetic testing is offered when (1) there is suspicion that a gene contributes to the pathogenesis of the disease, and (2) when such testing is available. This is dependent on the type of genetic disorder involved. There are three main groups of genetic disorders: single gene disorders, chromosomal disorders and multifactorial disorders. 1. Single Gene Disorders A single gene disorder is caused by a change in a single gene. There are many different types of single gene disorders. Individually, they are usually rare but overall they affect ~2 percent of the population over a lifetime. If the gene for the disease has been identified, it is likely that genetic testing is available or will be available soon for clinical use. 2. Chromosomal Disorders Individuals with chromosomal disorders have either a deficiency or excess of a part or whole chromosome. As chromosomes contain genes, a chromosomal disorder causes problems because many genes are either deficient or in excess. Chromosomal disorders are relatively common. About half of the miscarriages that occur in the first trimester are due to chromosomal defects, and about 0.7 per cent of babies are born with a chromosomal defect. An example is Down s syndrome. Common tests done to look for chromosomal disorders include a karyotype and fluorescent in-situ hybridization (FISH). 2

3 3. Multifactorial Disorders These are a group of diseases that arise due to multiple factors that include both genetic and environmental factors. They can cause many types of diseases ranging from birth defects in babies to common disorders in adults e.g. heart disease, diabetes mellitus. It is estimated that this group of disorder affects more than 60 percent of the population. Genetic testing is not usually available for this group of diseases as the effect of genetic variation on disease is not yet fully understood. Whom? Anyone who is an adult capable of making an informed consent can undergo genetic testing. There are, however, certain vulnerable groups that may need to be protected. These include 1. Minors (children) 2. Mentally incompetent 3. Individuals with language difficulties 4. Prisoners and students Minors with genetic diseases tend to fall into one of these groups 1. Symptomatic at diagnosis 2. Asymptomatic at evaluation, at risk of developing disease childhood/adulthood, availability of intervention or treatment during childhood 3. Asymptomatic at evaluation, at risk of developing disease adulthood, availability of intervention or treatment only during adulthood 4. Asymptomatic at evaluation, at risk of developing disease, no intervention or treatment available Minors in groups (1) and (2) can be tested as the results of the tests are likely to be directly benefit them. Minors in groups (3) and (4) should not be tested during childhood as prior knowledge usually has no direct benefit to the child, whereas the person giving consent may have a vested interest in the outcome of the genetic tests. The counter argument is that science is rapidly advancing and intervention or treatment in childhood may become available. To maximally benefit from such advancement, there is a need to know that one has the disease. In balance, effort must be made to protect the privacy of the child and his right not to know his genetic risk. Genetic testing of mentally incompetent individuals raise similar issues as the legal guardian who provides consent may benefit more from the results than the affected themselves. Non-educated persons and individuals with language issues e.g. deaf, foreigners are another vulnerable group as they may not be able to comprehend and hence not capable of truly informed consent. Prisoners and students are vulnerable as they may feel coerced to consenting to participating in genetic tests. 3

4 How to achieve informed consent Informed consent is the process by which a person is made fully aware of their options and participate in his/her choices about health care. To achieve informed consent in genetic testing is challenging because it involves many complex issues that may not be intuitive to the physician or patient. Hence, pre-testing genetic counseling given by an appropriately trained person is both prudent and essential. The aims of pre-testing genetic counseling are to explain the following to the patient/guardian 1. Genetic testing is voluntary and consent is required to proceed. 2. Time should be taken to ask all questions needed to make an independent personal decision. After consent is given, withdrawal of consent can be done at any time or the disclosure of the results postponed 3. The major medical facts of the disorder (diagnosis, prognosis, treatments available, inheritance pattern, and risks of recurrence in the family) 4. The implications of genetic testing (implications to other family members, detection of non-paternity, and possibility of psychological stress) 5. Sample required and possible side effects of the sample taking procedure. 6. Test procedure and expected turn around time 7. Accuracy of test results 8. Confidentiality of results 9. Alternative to gene testing Only after informed consent, is the sample is taken and sent for testing. The turn around time varies from days to weeks depending on the test and laboratory involved. Accuracy of genetic tests Accuracy in genetic testing is dependent on several factors 1. Integrity of the diagnostic chain i.e. ensuring no sample switch, contamination etc. 2. The test methodology. Test methodologies are broadly grouped into those based on DNA, RNA, chromosomes and/or proteins. Each group has its advantages and limitations, and these have implications on the interpretation of the results. Interpretation of results One of the biggest challenges in genetic testing is accurate interpretation of the results. This is greatly dependent upon experience and having up to date knowledge. In the context of diagnostic testing (i.e. a test used to identify or confirm the diagnosis of a disease in an affected individual), a positive test result is relatively straightforward to interpret. It confirms the clinical diagnosis, may give a prediction of the course of illness, can lead to a better choice in treatment and can be used to identify at-risk 4

5 family members. If an affected person tests negative, this does not imply that the clinical diagnosis is wrong. This negative test result may have arisen because (1) a mutation is present but test could not find it or (2) another gene is causing the disease. What it does mean is that outlook and treatment is not tailored and at risk family members are not likely to benefit from predictive testing. In the context of predictive testing (i.e. a test used to determine if an asymptomatic person is at risk of developing a genetic disorder), its utility hinges on whether we know the mutation in the family. If we know the mutation in the family, the genetic tests serves to answer the question Does this individual have the family mutation?. If this person tests negative, then he/she is very unlikely to develop that disease. If this person tests positive, then he/she has a risk of developing that disease. However, this risk may be complicated to quantify because (1) the certainty of having disease may not be 100% (nonpenetrance), (2) lack of genotype-phenotype correlation, (3) modification by preventive measures. If we don t know the mutation in the family, the genetic tests serves to answer the question Is there a significant mutation present in this gene?. If this person tests positive, then he/she has a risk of developing that disease. Similar to the above situation, this risk may be complicated to quantify because (1) the certainty of having disease may not be 100% (non-penetrance), (2) lack of genotype-phenotype correlation, (3) modification by preventive measures. If the person tests negative, this does not exclude the possibility of still being at because (1) a mutation present but test could not find it or (2) another gene is causing the disease. Follow up of results of genetic tests (Post- testing genetic counseling) As illustrated above, interpretation of genetic tests are complicated and hence a follow up visit is recommended so that a qualified person can explain the results and implications of the test in simple layman language. The patient s reaction, expectations and questions will have to be addressed and several visits may be necessary. Special issues to pay attention to Genetic testing not only has medical implications, it also has many ethical, social and legal implications. With the evolution and advancement of genetic testing technology, issues raised include Confidentiality Equitable accessibility to testing Revelation of non paternity and undisclosed adoption Risks for discrimination Risks for psychological stress e.g. guilt, anxiety, self doubt, ostracized, despair because no treatment is available etc. 5

6 There are no easy answers to these solutions. Several developed countries have come up with their own set of recommendations and Singapore is currently also developing her own especially since the governance and management of bioethical issues is critical to her development in the biomedical sciences. The Bioethics Advisory Committee, appointed by the Cabinet in December 2000, is tasked to address the potential ethical, legal and social issues arising from biomedical sciences research in Singapore. This includes the issue of genetic testing and its recommendations on this matter are expected with the next year. Diagnostic testing Test positive Confirm the diagnosis May give a prediction of the course of illness Can help choose the better treatment Can Identify at-risk family members Test negative Does not exclude the possibility of having the disease. Mutation present but test could not find it Another gene is causing the disease Outlook and treatment not tailored At risk family members not likely to benefit from predictive testing Predictive Genetic Testing Family mutation known Tests positive: has a risk of developing that disease What is the certainty of disease? (Penetrance) How severe? (Genotypephenotype correlation) Do preventive measures work? Is there early treatment? Tests negative: unlikely to develop that disease Family mutation not known Tests positive: has a risk of developing that disease What is the certainty of disease? (Penetrance) How severe? (Genotype-phenotype correlation) Do preventive measures work? Is there early treatment? Tests negative: Does not exclude the possibility of having the disease. Mutation present but test could not find it Another gene is causing the disease 6

810.12. Federal Act on Human Genetic Testing (HGTA) Scope, Purpose and Definitions

810.12. Federal Act on Human Genetic Testing (HGTA) Scope, Purpose and Definitions English is not an official language of the Swiss Confederation. This translation is provided for information purposes only and has no legal force. Federal Act on Human Genetic Testing (HGTA) 810.12 of

More information

Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics: Outcome Indicators

Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics: Outcome Indicators Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics: Outcome Indicators Introduction The Outcome Indicators are an adjunct to the Essential Nursing Competencies and Curricula

More information

REI Pearls: Pitfalls of Genetic Testing in Miscarriage

REI Pearls: Pitfalls of Genetic Testing in Miscarriage The Skinny: Genetic testing of miscarriage tissue is controversial and some people question if testing is helpful or not. This summary will: 1) outline the arguments for and against genetic testing; 2)

More information

Genetic Testing in Research & Healthcare

Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research and Healthcare Human genetic testing is a growing science. It is used to study genes

More information

Act of 5 December 2003 No. 100 relating to the application of biotechnology in human medicine, etc

Act of 5 December 2003 No. 100 relating to the application of biotechnology in human medicine, etc Act of 5 December 2003 No. 100 relating to the application of biotechnology in human medicine, etc Cf. earlier Acts of 5 August 1994 No. 56 and 12 June 1987 No. 68 Chapter 1. Purpose and scope 1-1. Purpose

More information

Genetic testing. The difference diagnostics can make. The British In Vitro Diagnostics Association

Genetic testing. The difference diagnostics can make. The British In Vitro Diagnostics Association 6 Genetic testing The difference diagnostics can make The British In Vitro Diagnostics Association Genetic INTRODUCTION testing The Department of Health published Our Inheritance, Our Future - Realising

More information

Insurance. Chapter 7. Introduction

Insurance. Chapter 7. Introduction 65 Chapter 7 Insurance Introduction 7.1 The subject of genetic screening in relation to insurance is not new. In 1935 R A Fisher addressed the International Congress of Life Assurance Medicine on the topic,

More information

Proposed European Curriculum for MSc Genetic Counselling. Eligibility to register Master level education

Proposed European Curriculum for MSc Genetic Counselling. Eligibility to register Master level education Introduction Proposed European Curriculum for MSc Genetic Counselling Eligibility to register Master level education The EBMG proposes that all genetic counsellors and nurses be educated at Master level;

More information

BCS1L COQ2 POLG. Genetic Testing for Mitochondrial Disorders: A Guide for Patients

BCS1L COQ2 POLG. Genetic Testing for Mitochondrial Disorders: A Guide for Patients Mito COX10 BCS1L COQ2 POLG Genetic Testing for Mitochondrial Disorders: A Guide for Patients KNOWING WHAT TO LOOK FOR KNOWING WHERE TO LOOK AND KNOWING WHAT IT MEANS Mitochondrial Disorders What are mitochondria?

More information

In recent years the number of DNA genetic tests that you can

In recent years the number of DNA genetic tests that you can Inside How accurate are the tests? 2 How useful are the tests? 2 What can Direct-to-Consumer DNA genetic tests tell me? 2 What happens to my personal information? 3 What protections are there in Australia?

More information

Overview of Genetic Testing and Screening

Overview of Genetic Testing and Screening Integrating Genetics into Your Practice Webinar Series Overview of Genetic Testing and Screening Genetic testing is an important tool in the screening and diagnosis of many conditions. New technology is

More information

Minimum standards for ICSI use, screening, patient information and follow-up in WA fertility clinics. January 2006

Minimum standards for ICSI use, screening, patient information and follow-up in WA fertility clinics. January 2006 Minimum standards for ICSI use, screening, patient information and follow-up in WA fertility clinics January 2006 1. BACKGROUND ICSI has been shown to be effective for male factor infertility and it also

More information

Consultation Response Medical profiling and online medicine: the ethics of 'personalised' healthcare in a consumer age Nuffield Council on Bioethics

Consultation Response Medical profiling and online medicine: the ethics of 'personalised' healthcare in a consumer age Nuffield Council on Bioethics Consultation Response Medical profiling and online medicine: the ethics of 'personalised' healthcare in a consumer age Nuffield Council on Bioethics Response by the Genetic Interest Group Question 1: Health

More information

A test your patients can trust.

A test your patients can trust. A test your patients can trust. A simple, safe, and accurate non-invasive prenatal test for early risk assessment of Down syndrome and other conditions. informaseq Prenatal Test Simple, safe, and accurate

More information

How does genetic testing work?

How does genetic testing work? How does genetic testing work? What is a genetic test? A genetic test looks at to find changes (variants) that cause disease or put you at greater risk to develop disease. DNA is the code our bodies use

More information

This fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive.

This fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive. 11111 This fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive. In summary Genes contain the instructions for

More information

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD 2 Outline Genetics 101: Basic Concepts and Myth Busting Inheritance Patterns

More information

Information for patients and the public and patient information about DNA / Biobanking across Europe

Information for patients and the public and patient information about DNA / Biobanking across Europe Information for patients and the public and patient information about DNA / Biobanking across Europe BIOBANKING / DNA BANKING SUMMARY: A biobank is a store of human biological material, used for the purposes

More information

Patient Information. for Childhood

Patient Information. for Childhood Patient Information Genetic Testing for Childhood Hearing Loss Introduction This document describes the most common genetic cause of childhood hearing loss and explains the role of genetic testing. Childhood

More information

Information for Your Patients

Information for Your Patients Information for Your Patients What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test offered to women

More information

REQUEST FOR IMAGe SYNDROME TESTING

REQUEST FOR IMAGe SYNDROME TESTING REQUEST FOR IMAGe SYNDROME TESTING Please provide the following information. We cannot perform your test without ALL of this information. PLEASE PRINT ALL ANSWERS PATIENT INFORMATION* FIRST NAME MI LAST

More information

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father. AP Psychology 2.2 Behavioral Genetics Article Chromosomal Abnormalities About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes.

More information

Pl"OtocolDirector: Iris Schrijver _ IRB Approval Date: _June 20 2006 IRE Expiration Date: June 19, 2007 _ STANFORD SAMPLE CONSENT FORM

PlOtocolDirector: Iris Schrijver _ IRB Approval Date: _June 20 2006 IRE Expiration Date: June 19, 2007 _ STANFORD SAMPLE CONSENT FORM Protocol Title: Molecular genetic basis of sensorineural hearing Pl"OtocolDirector: Iris Schrijver IRB Approval Date: June 20 2006 IRE Expiration Date: June 19, 2007 STANFORD SAMPLE CONSENT FORM Please

More information

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What does the career involve? Explore family histories to identify risks Reducing risks

More information

INTRODUCTION TO THE UK CURRICULUM IN CLINICAL GENETICS

INTRODUCTION TO THE UK CURRICULUM IN CLINICAL GENETICS INTRODUCTION TO THE UK CURRICULUM IN CLINICAL GENETICS Clinical Geneticists work in multidisciplinary regional genetic centres in the UK, in close collaboration with laboratory scientists, clinical co-workers

More information

About The Causes of Hearing Loss

About The Causes of Hearing Loss About 1 in 500 infants is born with or develops hearing loss during early childhood. Hearing loss has many causes: some are genetic (that is, caused by a baby s genes) or non-genetic (such as certain infections

More information

Genetic Counseling and Testing: Cancer Genetics

Genetic Counseling and Testing: Cancer Genetics KAISER PERMANENTE HAWAII CLINICAL PRACTICE GUIDELINE Genetic Counseling and Testing: Cancer Genetics QUALITY COMMITTEE ADOPTION DATE: October 2015 LAST REVIEW DATE: September 2015 NEXT SCHEDULED REVIEW

More information

Client s Rights and Counselor Responsibilities

Client s Rights and Counselor Responsibilities Client s Right to Give Informed Consent Client s Rights and Counselor Responsibilities Chapter 5 Psychology 475 Professional Ethics in Addictions Counseling Listen to the audio lecture while viewing these

More information

Contents. Juvenile Onset HD. Family Guide Series. Reviewed by: Disclaimer: How to Use This Guide 2. I. Huntington s Disease and the HD Gene 3-5

Contents. Juvenile Onset HD. Family Guide Series. Reviewed by: Disclaimer: How to Use This Guide 2. I. Huntington s Disease and the HD Gene 3-5 Juvenile Onset HD Family Guide Series Reviewed by: Randi Jones, Ph.D. HDSA Center of Excellence Emory University Atlanta, GA Ami Rosen, CGC HDSA Center of Excellence Emory University Atlanta, GA Contents

More information

First Trimester Screening for Down Syndrome

First Trimester Screening for Down Syndrome First Trimester Screening for Down Syndrome What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test

More information

Human Mendelian Disorders. Genetic Technology. What is Genetics? Genes are DNA 9/3/2008. Multifactorial Disorders

Human Mendelian Disorders. Genetic Technology. What is Genetics? Genes are DNA 9/3/2008. Multifactorial Disorders Human genetics: Why? Human Genetics Introduction Determine genotypic basis of variant phenotypes to facilitate: Understanding biological basis of human genetic diversity Prenatal diagnosis Predictive testing

More information

Suggested answers to questions

Suggested answers to questions Teacher Notes Introduction This activity encourages students to read an article which provides a good overview of the issues involved in genetic testing. It will also teach them useful reading skills,

More information

BRCA in Men. Mary B. Daly,M.D.,Ph.D. June 25, 2010

BRCA in Men. Mary B. Daly,M.D.,Ph.D. June 25, 2010 BRCA in Men Mary B. Daly,M.D.,Ph.D. June 25, 2010 BRCA in Men Inheritance patterns of BRCA1/2 Cancer Risks for men with BRCA1/2 mutations Risk management recommendations for men with BRCA1/2 mutations

More information

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA Cytogenetics is the study of chromosomes and their structure, inheritance, and abnormalities. Chromosome abnormalities occur in approximately:

More information

Clinical Genetics in Heart Function Services

Clinical Genetics in Heart Function Services Clinical Genetics in Heart Function Services Dhavendra Kumar Consultant/ Hon. Professor Clinical Geneticist & Lead- Cardiovascular Genetics Institute of Medical Genetics University Hospital of Wales Cardiff

More information

Usher Syndrome Genetics

Usher Syndrome Genetics Usher Syndrome Genetics October 2012 Page 1 of 20 Introduction Usher syndrome is a genetic or inherited condition that affects hearing, vision and balance The sight loss is caused by an eye condition known

More information

UNIT 13 (OPTION) Genetic Abnormalities

UNIT 13 (OPTION) Genetic Abnormalities Unit 13 Genetic Abnormailities 1 UNIT 13 (OPTION) Genetic Abnormalities Originally developed by: Hildur Helgedottir RN, MN Revised (2000) by: Marlene Reimer RN, PhD, CCN (C) Associate Professor Faculty

More information

NOTTINGHAM UNIVERSITY HOSPITAL NHS TRUST NOTTINGHAM BREAST INSTITUTE BREAST AND OVARIAN FAMILY HISTORY GUIDELINES

NOTTINGHAM UNIVERSITY HOSPITAL NHS TRUST NOTTINGHAM BREAST INSTITUTE BREAST AND OVARIAN FAMILY HISTORY GUIDELINES NOTTINGHAM UNIVERSITY HOSPITAL NHS TRUST NOTTINGHAM BREAST INSTITUTE BREAST AND OVARIAN FAMILY HISTORY GUIDELINES GP Referrals All GP referrals for asymptomatic women with a family history of breast and/or

More information

DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES

DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES Extracts from a review article by KN North and KJ Jones: Recent advances in diagnosis of the childhood muscular dystrophies Journal of Paediatrics and Child Health

More information

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Patient Education intermountainhealthcare.org A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Most news is good news. Most babies are born without major birth defects. Early in your pregnancy,

More information

Diagnostic Scoring System for LQTS

Diagnostic Scoring System for LQTS Medical Coverage Policy Genetic Testing: Congenital Long QT Syndrome Device/Equipment Drug Medical Surgery Test Other Effective Date: 2/15/2011 Policy Last Updated: 2/21/2012 Prospective review is recommended/required.

More information

U.K. Familial Ovarian Cancer Screening Study (UK FOCSS) Phase 2 Patient Information Sheet

U.K. Familial Ovarian Cancer Screening Study (UK FOCSS) Phase 2 Patient Information Sheet U.K. Familial Ovarian Cancer Screening Study (UK FOCSS) Phase 2 Patient Information Sheet 1. Invitation You are being invited to take part in a research study. Before you decide it is important for you

More information

Preimplantation Genetic Diagnosis (PGD) and Childhood Diagnostic Evaluation

Preimplantation Genetic Diagnosis (PGD) and Childhood Diagnostic Evaluation IG O Preimplantation Genetic Diagnosis (PGD) and Childhood Diagnostic Evaluation KD Carsten Bergmann carsten.bergmann@bioscientia.de carsten.bergmann@uniklinik-freiburg.de Controversies Conference on ADPKD

More information

Human Research Protection Program University of California, San Diego ISSUES ON DNA AND INFORMED CONSENT

Human Research Protection Program University of California, San Diego ISSUES ON DNA AND INFORMED CONSENT Human Research Protection Program University of California, San Diego ISSUES ON DNA AND INFORMED CONSENT Regulatory changes will occur for investigators studying human DNA The recent acceleration and widening

More information

The University of Texas Southwestern Medical Center at Dallas Retina Foundation of the Southwest CONSENT TO PARTICIPATE IN RESEARCH

The University of Texas Southwestern Medical Center at Dallas Retina Foundation of the Southwest CONSENT TO PARTICIPATE IN RESEARCH The University of Texas Southwestern Medical Center at Dallas Retina Foundation of the Southwest CONSENT TO PARTICIPATE IN RESEARCH Title of Research: Funding Agency/Sponsor: Study Doctors: Research Personnel:

More information

R 3160 PHYSICAL EXAMINATION

R 3160 PHYSICAL EXAMINATION TEACHING STAFF EBERS PHYSICAL EXAINATION R 3160/Page 1 of 6 A. Definitions R 3160 PHYSICAL EXAINATION 1. Employee assurance statement means a statement signed by the employee certifying that information

More information

Genetics Disorder Grading Rubric

Genetics Disorder Grading Rubric Your Name: Disorder: Genetics Disorder Grading Rubric Introduction Name the What part of the body does it generally affect? List all of the possible effects on the body What happens in the body to cause

More information

European registered Clinical Laboratory Geneticist (ErCLG) Core curriculum

European registered Clinical Laboratory Geneticist (ErCLG) Core curriculum (February 2015; updated from paper issued by the European Society of Human Genetics Ad hoc committee for the accreditation of clinical laboratory geneticists, published in February 2012) Speciality Profile

More information

Concordat and Moratorium on Genetics and Insurance

Concordat and Moratorium on Genetics and Insurance Concordat and Moratorium on Genetics and Insurance 2011 Introduction 1. The Government and the Association of British Insurers (ABI) believe the relationship between medical data and insurance underwriting

More information

Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina

Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina Genetic Counseling: A Profession in the Making Jessica Hooks, MS Genetic Counselor University of South Carolina Definition the process of helping people understand and adapt to the medical, psychological

More information

Fact Sheet 14 EPIGENETICS

Fact Sheet 14 EPIGENETICS This fact sheet describes epigenetics which refers to factors that can influence the way our genes are expressed in the cells of our body. In summary Epigenetics is a phenomenon that affects the way cells

More information

Medicare Coverage of Genomic Testing

Medicare Coverage of Genomic Testing Medicare Coverage of Genomic Testing Louis B. Jacques, MD Director, DID/CAG/OCSQ With acknowledgements to Jeff Roche, MD Social Security Act 1862(a)(1)(A) Notwithstanding any other provision of this title,

More information

Conroe Physician Associates. Patient Consent Form. I fully understand that this is given in advance of any specific diagnosis or treatment.

Conroe Physician Associates. Patient Consent Form. I fully understand that this is given in advance of any specific diagnosis or treatment. Conroe Physician Associates Patient Consent Form Please Read and Sign I, undersigned, hereby consent to the following: Administration and performance of all treatments Administration of any needed anesthetics

More information

Obstetrical Ultrasound and Prenatal Diagnostic Center

Obstetrical Ultrasound and Prenatal Diagnostic Center Obstetrical Ultrasound and Prenatal Diagnostic Center Prenatal Diagnosis: Options and Opportunities Learn about various screening options including Early Risk Assessment (ERA), now available to women of

More information

The RCGP Curriculum: Clinical Modules

The RCGP Curriculum: Clinical Modules The RCGP Curriculum: Clinical Modules Version approved 18 May 2015 for implementation from 5 August 2015 3.02 Genetics in Primary Care Summary It has been estimated that at least one in ten of the patients

More information

Consent to Perform Preimplantation Genetic Screening (PGS) using. Comparative Genomic Hybridization (acgh) or Next Generation Sequencing (NGS)

Consent to Perform Preimplantation Genetic Screening (PGS) using. Comparative Genomic Hybridization (acgh) or Next Generation Sequencing (NGS) Consent to Perform Preimplantation Genetic Screening (PGS) using Array Comparative Genomic Hybridization (acgh ) or Next Generation Sequencing (NGS) Purpose The purpose of Preimplantation Genetic Screening

More information

Preimplantation Genetic Diagnosis. Evaluation for single gene disorders

Preimplantation Genetic Diagnosis. Evaluation for single gene disorders Preimplantation Genetic Diagnosis Evaluation for single gene disorders What is Preimplantation Genetic Diagnosis? Preimplantation genetic diagnosis or PGD is a technology that allows genetic testing of

More information

Genetic Basis of Cardiomyopathy

Genetic Basis of Cardiomyopathy Genetic Basis of Cardiomyopathy A GUIDE FOR PATIENTS AND FAMILIES LABORATORY FOR MOLECULAR MEDICINE This booklet has been prepared for patients, families and healthcare professionals who are interested

More information

RESEARCH PARTICIPANT INFORMED CONSENT AND PRIVACY AUTHORIZATION FORM

RESEARCH PARTICIPANT INFORMED CONSENT AND PRIVACY AUTHORIZATION FORM If you are using Epic for this study, fax a copy of the signed consent form to 410-367-7382. Patient I.D. Plate RESEARCH PARTICIPANT INFORMED CONSENT AND PRIVACY AUTHORIZATION FORM Protocol Title: Application

More information

ACKNOWLEDGEMENT OF RECEIPT OF WESTERN DENTAL S NOTICE OF PRIVACY PRACTICE

ACKNOWLEDGEMENT OF RECEIPT OF WESTERN DENTAL S NOTICE OF PRIVACY PRACTICE ACKNOWLEDGEMENT OF RECEIPT OF WESTERN DENTAL S NOTICE OF PRIVACY PRACTICE By signing this document, I acknowledge that I have received a copy of Western Dental s Joint Notice of Privacy Practices. Name

More information

Keweenaw Holistic Family Medicine Patient Registration Form

Keweenaw Holistic Family Medicine Patient Registration Form Keweenaw Holistic Family Medicine Patient Registration Form How did you first learn of our Clinic? Circle one: Attended Lecture Internet KHFM website Newspaper Sign in window Yellow Pages Physician Friend

More information

CAGC Certification Logbook of Clinical Experience INSTRUCTIONS

CAGC Certification Logbook of Clinical Experience INSTRUCTIONS CAGC Certification Logbook of Clinical Experience INSTRUCTIONS The purpose of the logbook is to show that the applicant has been significantly involved in the evaluation and counselling of patients seeking

More information

STUDENT PROFESSIONALISM

STUDENT PROFESSIONALISM STUDENT PROFESSIONALISM CMA Code of Ethics (Updated 2004 reviewed March 2012) This Code has been prepared by the Canadian Medical Association as an ethical guide for Canadian physicians, including residents,

More information

Noninvasive prenatal screen for pregnancy

Noninvasive prenatal screen for pregnancy Noninvasive prenatal screen for pregnancy What is QNatal TM Advanced Noninvasive Prenatal Screening? The QNatal Advanced prenatal screen is a noninvasive test that provides a high degree of accuracy for

More information

Prenatal screening and diagnostic tests

Prenatal screening and diagnostic tests Prenatal screening and diagnostic tests Contents Introduction 3 First trimester routine tests in the mother 3 Testing for health conditions in the baby 4 Why would you have a prenatal test? 6 What are

More information

GENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110

GENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110 GENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110 COVERAGE: Pre- and post-genetic test counseling may be eligible for coverage in addition to the genetic

More information

Working Together HEALTH SERVICES FOR CHILDREN IN FOSTER CARE

Working Together HEALTH SERVICES FOR CHILDREN IN FOSTER CARE Chapter Eight Maintaining Health Records Maintaining the health records of children in foster care is critical to providing and monitoring health care on an ongoing basis. When health records are maintained

More information

Your newborn baby s blood test

Your newborn baby s blood test Newborn Screening Free health checks for your baby Your newborn baby s blood test The Newborn Metabolic Screening Programme All babies are checked at birth to see that all is well. Some of your baby s

More information

European Society of Human Genetics Ad hoc committee for the accreditation of clinical laboratory geneticists

European Society of Human Genetics Ad hoc committee for the accreditation of clinical laboratory geneticists European Society of Human Genetics Ad hoc committee for the accreditation of clinical laboratory geneticists Clinical Laboratory Genetics as an EU-recognized specialist profession Aims and objectives for

More information

Assessing Risk in Social and Behavioral Sciences

Assessing Risk in Social and Behavioral Sciences Tracy Arwood, MS Clemson University Sangeeta Panicker, PhD American Psychological Association Assessing Risk in Social and Behavioral Sciences Assessing Risk in Social and Behavioral Sciences Content Authors

More information

Consent Form: Example 2 (DNA Sequencing)

Consent Form: Example 2 (DNA Sequencing) Consent Form: Example 2 (DNA Sequencing) Important note: This model language was developed for the NHGRI Medical Sequencing Project (MSP). It is included here only as an example of how to describe a sequencing

More information

Who to call for an emergency: Name: Relationship: Home Phone: ( ) - Work Phone: ( ) - Cell Phone: ( ) -

Who to call for an emergency: Name: Relationship: Home Phone: ( ) - Work Phone: ( ) - Cell Phone: ( ) - 4425 Ponce de Leon Blvd., Suite 115 Email:info@ Dr. Mercedes Gonzalez, Pediatric Dermatologist Patient Information: Patient Name: Social Security Number: / / Date of Birth: / / Sex: M / F (Circle one)

More information

MUSCLE BIOPSY FREQUENTLY ASKED QUESTIONS. for mitochondrial and metabolic disorders

MUSCLE BIOPSY FREQUENTLY ASKED QUESTIONS. for mitochondrial and metabolic disorders MUSCLE BIOPSY for mitochondrial and metabolic disorders FREQUENTLY ASKED QUESTIONS Note: The information contained in this document is not intended nor should it replace a one on one discussion about your

More information

Proposal 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 Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name and description (please provide any alternative names you wish listed) (A)-Testing

More information

Understanding Hereditary Breast and Ovarian Cancer. Maritime Hereditary Cancer Service

Understanding Hereditary Breast and Ovarian Cancer. Maritime Hereditary Cancer Service Understanding Hereditary Breast and Ovarian Cancer Maritime Hereditary Cancer Service General Information Cancer is very common. About one in three (33%) people are diagnosed with some form of cancer during

More information

CORD BLOOD TRANSPLANTATION STUDY EXPANDED ACCESS PROTOCOL APPENDIX A SAMPLE CONSENT FORM

CORD BLOOD TRANSPLANTATION STUDY EXPANDED ACCESS PROTOCOL APPENDIX A SAMPLE CONSENT FORM APPENDIX A SAMPLE CONSENT FORM CORD BLOOD TRANSPLANTATION (COBLT) STUDY SAMPLE CONSENT FORM FOR THE EXPANDED ACCESS PROTOCOL You (your child) are being asked to take part in a clinical research study.

More information

Rigid spine syndrome (RSS) (Congenital muscular dystrophy with rigidity of the spine, including RSMD1)

Rigid spine syndrome (RSS) (Congenital muscular dystrophy with rigidity of the spine, including RSMD1) Rigid spine syndrome (RSS) (Congenital muscular dystrophy with rigidity of the spine, including RSMD1) What is RSMD1? The congenital muscular dystrophies are a group of conditions which share early presentation

More information

Preimplantation Genetic Diagnosis (PGD) in Western Australia

Preimplantation Genetic Diagnosis (PGD) in Western Australia Preimplantation Genetic Diagnosis (PGD) in Western Australia Human somatic cells have 46 chromosomes each, made up of the 23 chromosomes provided by the egg and the sperm cell from each parent. Each chromosome

More information

If you are signing for a minor child, you refers to your child throughout the consent document.

If you are signing for a minor child, you refers to your child throughout the consent document. CONSENT TO PARTICIPATE IN A CLINICAL RESEARCH STUDY Adult Patient or Parent, for Minor Patient INSTITUTE: National Cancer Institute PRINCIPAL INVESTIGATOR: Raffit Hassan, M.D. STUDY TITLE: Tissue Procurement

More information

RESEARCH PARTICIPANT INFORMATION SHEET. Safer pre-natal diagnosis using free DNA in maternal blood test. (also known as the IONA Study)

RESEARCH PARTICIPANT INFORMATION SHEET. Safer pre-natal diagnosis using free DNA in maternal blood test. (also known as the IONA Study) RESEARCH PARTICIPANT INFORMATION SHEET Safer pre-natal diagnosis using free DNA in maternal blood test (also known as the IONA Study) REC ref: 07/H0607/101 Principal Investigator: Mr Edward Johnstone Version

More information

Making Sense of Your Genes

Making Sense of Your Genes 1 A Guide to Genetic Counseling Making Sense of Your Genes a Guide to Genetic Counseling Contents What is genetic counseling? 1 Why might I see a genetic counselor? 1 How can I prepare for a genetic counseling

More information

Genetic diagnostics the gateway to personalized medicine

Genetic diagnostics the gateway to personalized medicine Micronova 20.11.2012 Genetic diagnostics the gateway to personalized medicine Kristiina Assoc. professor, Director of Genetic Department HUSLAB, Helsinki University Central Hospital The Human Genome Packed

More information

Concordat and Moratorium on Genetics and Insurance

Concordat and Moratorium on Genetics and Insurance Concordat and Moratorium on Genetics and Insurance 2014 Preface The Concordat and Moratorium on Genetics and Insurance has been updated to reflect the agreement s extension until 2019. The interim review

More information

Heredity - Patterns of Inheritance

Heredity - Patterns of Inheritance Heredity - Patterns of Inheritance Genes and Alleles A. Genes 1. A sequence of nucleotides that codes for a special functional product a. Transfer RNA b. Enzyme c. Structural protein d. Pigments 2. Genes

More information

Carrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner)

Carrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner) Carrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner) The goal of our practice at ARMS is to make sure that you receive optimal care to improve your chances of having

More information

Guidance For Research Involving Human Embryonic Stem Cells, Germ Cells, And Cells Obtained From Cord Blood

Guidance For Research Involving Human Embryonic Stem Cells, Germ Cells, And Cells Obtained From Cord Blood Guidance For Research Involving Human Embryonic Stem Cells, Germ Cells, And Cells Obtained From Cord Blood Supreme Council of Health Department of Research Guidance Regarding Research Involving Human Embryonic

More information

THE HEALTH CARE PROFESSIONS COUNCIL OF SOUTH AFRICA GUIDELINES FOR GOOD PRACTICE IN THE HEALTH CARE PROFESSIONS

THE HEALTH CARE PROFESSIONS COUNCIL OF SOUTH AFRICA GUIDELINES FOR GOOD PRACTICE IN THE HEALTH CARE PROFESSIONS THE HEALTH CARE PROFESSIONS COUNCIL OF SOUTH AFRICA GUIDELINES FOR GOOD PRACTICE IN THE HEALTH CARE PROFESSIONS SEEKING PATIENTS INFORMED CONSENT: THE ETHICAL CONSIDERATIONS BOOKLET 9 PRETORIA MAY 2008

More information

Array Comparative Genomic Hybridisation (CGH)

Array Comparative Genomic Hybridisation (CGH) Array Comparative Genomic Hybridisation (CGH) Exceptional healthcare, personally delivered What is array CGH? Array CGH is a new test that is now offered to all patients referred with learning disability

More information

University of Central Arkansas Counseling Center Student Health Center Suite 327 Conway, AR 72035 (501) 450-3138

University of Central Arkansas Counseling Center Student Health Center Suite 327 Conway, AR 72035 (501) 450-3138 Page1 University of Central Arkansas Counseling Center Student Health Center Suite 327 Conway, AR 72035 (501) 450-3138 UCA Counseling Center Client Information Eligibility: Counseling services of the Center

More information

Proposal 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 Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider TEST DISEASE/CONDITION POPULATION TRIAD Submitting laboratory: Cambridge RGC Approved: September 2012

More information

A Guide to Prenatal Genetic Testing

A Guide to Prenatal Genetic Testing Patient Education Page 29 A Guide to Prenatal Genetic Testing This section describes prenatal tests that give information about your baby s health. It is your choice whether or not to have these tests

More information

2013 CPT Coding Changes Psychiatry

2013 CPT Coding Changes Psychiatry 2013 CPT Coding Changes Psychiatry CPT made dramatic changes to this coding section to better reflect the different work performed by physicians and other healthcare professionals and to capture changes

More information

THE ROYAL AUSTRALIAN AND NEW ZEALAND COLLEGE OF RADIOLOGISTS

THE ROYAL AUSTRALIAN AND NEW ZEALAND COLLEGE OF RADIOLOGISTS medical imaging consent guidelines FAculty of Clinical Radiology THE ROYAL AUSTRALIAN AND NEW ZEALAND COLLEGE OF RADIOLOGISTS The Royal Australian and New Zealand College of Radiologists Eligibility to

More information

James A. Purvis, Ph.D. Psychotherapy Services Agreement

James A. Purvis, Ph.D. Psychotherapy Services Agreement James A. Purvis, Ph.D. Psychotherapy Services Agreement PSYCHOLOGICAL SERVICES Psychotherapy is not easily described in general statements. It varies depending on the personalities of the psychologist

More information

Genetics of Turner syndrome. Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics

Genetics of Turner syndrome. Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics Genetics of Turner syndrome Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics National Centre for Medical Genetics Clinical Genetics Cytogenetics Molecular Genetics www.genetics.ie

More information

12.0 Investigator Responsibilities

12.0 Investigator Responsibilities v. 5.13.13 12.0 Investigator Responsibilities 12.1 Policy Investigators are ultimately responsible for the conduct of research. Research must be conducted according to the signed Investigator statement,

More information

Family Guide: Children s Mental Health Services. Texas Resilience and Recovery

Family Guide: Children s Mental Health Services. Texas Resilience and Recovery Family Guide: Children s Mental Health Services Texas Resilience and Recovery This Family Guide to Children s Mental Health Services was created to help you navigate the Children s Mental Health System

More information

Strategies for Electronic Exchange of Substance Abuse Treatment Records

Strategies for Electronic Exchange of Substance Abuse Treatment Records Strategies for Electronic Exchange of Substance Abuse Treatment Records Patricia Gray, J. D., LL. M. Prepared for the Texas Health and Human Services Commission and the Texas Health Services Authority

More information

Guidance on the Genetic Information Nondiscrimination Act: Implications for Investigators and Institutional Review Boards

Guidance on the Genetic Information Nondiscrimination Act: Implications for Investigators and Institutional Review Boards Office for Human Research Protections (OHRP) Department of Health and Human Services (HHS) Guidance on the Genetic Information Nondiscrimination Act: Implications for Investigators and Institutional Review

More information

Guidelines for health professionals about DNA / Biobanking in Europe

Guidelines for health professionals about DNA / Biobanking in Europe Guidelines for health professionals about DNA / Biobanking in Europe BIOBANKING SUMMARY A "biobank" is a: "service unit, non-profit organization for the collection and preservation of biological material

More information