Genomic Issues in Healthcare
|
|
- Alannah Violet Watson
- 8 years ago
- Views:
Transcription
1 Genomic Issues in Healthcare Kathleen Calzone, PhD, RN, APNG, FAAN Center for Cancer Research, Genetics Branch National Cancer Institute
2 Definitions Genetics study of individual genes and their impact on relatively rare single gene disorders Genomics study of all the genes in the human genome together, including their interactions with each other, the environment, and other psychosocial and cultural factors
3 Top 10 Leading Causes of Death Heart Disease 24.8% Malignant Neoplasms 23.5% Chronic Respiratory Disease 5.7% Cerebrovascular 5.3% Unintentional Injury 4.8% Alzheimer's Disease 3.3% Diabetes Mellitus 2.9% Influenza & Pneumonia 2.2% Nephritis 2.0% Suicide
4 Emerging Science/Technology
5
6 Extent of Genetic and Genomic Testing 9/5/2011, 2430 diseases with available genetic tests 2168 clinical 262 research 8/23/2012, 2735 diseases with available genetic tests 2487 clinical 248 research 3/7/2013, 2941 diseases with available genetic tests 2712 clinical 229 research
7
8 The Race for the $1000 Genome
9
10 Direct to Consumer Marketing and Testing Tests are available direct to the consumer. Most require only a saliva sample. Example: p 23andMe-Evaluating more than 1,000,000 SNP s for >200 health conditions or health related traits $99.
11 Genomic Healthcare Applications Preconception and Prenatal Testing Monitoring Disease Burden and Recurrence Newborn Screening Genomics Prognosis and Therapeutic Decisions Disease Susceptibility Screening and Diagnosis Calzone, et al. (2013). Relevance of genomics to healthcare and nursing practice. Journal of Nursing Scholarship. [EPub ahead of print].
12 The Cancer Exemplar Risk Assessment Screening Symptom Management Therapy Selection Diagnosis/Prognosis i i
13 Risk Assessment More than 55 hereditary cancer syndromes have been identified The most common syndromes are those associated with breast, ovarian, and gastrointestinal cancers Tumor features at diagnosis are now being used as an indication for genetic assessment Germline cancer susceptibility gene testing Relevant to individuals diagnosed with cancer whose cancer management may be altered Individuals unaffected with cancer who could benefit from mutation specific cancer risk management At-risk family members
14 Screening Genetic information is being used to personalize cancer screening recommendations SNP test results are being studied as a means to increase the specificity it of cancer risk calculation models (i.e. Gail model for breast cancer risk) Screening tests that include DNA analysis are being developed such as the DNA stool test, a less invasive means to screen for colon polyps or cancer
15 Diagnosis/Prognosis Establish Et blih an accurate diagnosis i Tumor profiling is being used to identify recurrence risk to guide adjuvant therapy Schmitz et al. (2012). Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature, Epub ahead of print. McDermott et al. (2011). Genomics and the continuum of cancer care, NEJM, 364,
16 Therapy Selection The use of therapies targeted to proteins encoded by mutated cancer genes Pre and Post PET Scan using Targeted Treatment for V600E BRAF Mutation in Melanoma McDermott et al. (2011). Genomics and the continuum of cancer care, NEJM, 364,
17 McDermott et al. (2011). Genomics and the continuum of cancer care, NEJM, 364,
18 Symptom Management Priority area of nursing research is the study of the genetic influences of symptom clusters Pharmacogenomics Inhibitors and/or Inducers Implications for: Medications used for other health conditions (i.e. anti-convulsants) Selecting medications to control symptoms such as hot flashes, nausea/vomiting Use of over the counter medications like St. Johns Wort Consumption of certain foods or supplements like grapefruit/grapefruit juice
19 The Quest for Personalized Health Care Use of an individual's genetic/genomic information In addition to traditional health information to guide health care decision-making Disease prevention, risk reduction, diagnosis, treatment, symptom management and palliative care Pharmacogenomics Medication selection Dose selection Inhibitors Inducers
20 Implications for Occupational Health and Safety Workplace Wellness Programs Environmental Hazards Health Protection Healthier and Safer Workforce
21 Genomics and Environmental o e a Hazards a a ds
22 Epigenetics The study of genetic variation caused by the activation and deactivation of genes without any change in the underlying DNA sequence. The epigenome involves chemical compounds that modify, or mark the genome in a way that tells it what, where, and when to do it. Can be passed on from cell to cell as cells divide, and from one generation to the next.
23
24 The International HapMap Project Discovery of common human genetic variation 10 million single nucleotide polymorphisms (SNPs) World-wide population distribution
25 Published Genome-Wide Associations through 07/2012 Published GWA at p 5X10-8 for 18 trait categories NHGRI GWA Catalog
26 Asbestos Exposure and Cancer Susceptibility Asbestosis results from exposure to asbestos and/or other fibrous minerals (i.e. erionite) Asbestos represents at least 6 fibrous silicate minerals used commercially Exposure increases the risk of lung cancer and mesothelioma Mesolthelioma is an aggressive malignancy of the mesothelial cells of the pleura, peritoneum and pericardium ~5% of workers exposed to asbestos develop mesothelioma Carbone et al. (2012). Molecular pathways: Targeting Mechanisms of asbestos and erionite carcinogenesis in mesothelioma. CCR, 18, Wei et al. (2012). Genome-wide gene-environment interaction analysis for asbestos exposure in lung cancer susceptibility. Carcinogenesis, 33:
27 Genetic Influences of Mineral Fiber Carcinogenesis BRCA1 associated protein 1 (BAP1); a tumor suppressor gene on chromosome 3p21 Germline mutations in BAP1 associated with malignant mesothelioma, uveal melanoma, cutaneous melanoma, and melanocytic BAP1- mutated atypical intradermal tumors (MBAITs) Evidence is accumulating that germline BAP1 mutation carriers are more susceptible to the carcinogenic effects of asbestos and erionite Landany et al. (2012). New strategies in pleural mesothelioma: BAP1 and NF2 as novel targets for therapeutic development and risk assessment. CCR, 18(17): Carbone et al. (2012). BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. JTM,
28 Genomics G i and d Health Protection
29 Hospital Outbreak of a Drug Resistant Pathogen Snitken et al. (2012). Tracking a hospital outbreak of carbapenem-resistent klebsiella pheumoniae with whole-genome sequencing. Sci Transl Med, 4.
30 What the Detective Found Gram-negative Klebsiella pneumoniae is a major cause of nosocomial infections Increase in strains resistant to carbapenum antibiotics with limited alternative treatment options Infection containment becomes paramount The CDC has detected this antibiotic resistant strain in 41 states One patient known to be infected was admitted in June 13, 2011 and discharged July 15, 2011 Enhanced isolation procedures were immediately implemented upon admission No spread of the infection was detected while she was in the hospital August 5, 2011, 3 weeks after the first patient was discharged, d a second infected patient t was identified d Snitken et al. (2012). Tracking a hospital outbreak of carbapenem-resistent klebsiella pheumoniae with whole-genome sequencing. Sci Transl Med, 4.
31 Who Done It? The outbreak progressed despite standard of care infection control procedures As the outbreak progressed even more aggressive measures were employed Nurses caring for infected patients cared for no other patient Monitors were hired to ensure aggressive infection control Traditional infection control epidemiologic assessments did not reveal how the pathogen traveled from one patient t to another 19 patients were infected, 12 died Genome analysis was employed Unexpected manner of transmission All cases appear to be have stemmed from the index case Snitken et al. (2012). Tracking a hospital outbreak of carbapenem-resistent klebsiella pheumoniae with whole-genome sequencing. Sci Transl Med, 4.
32 Carbapenem-resistant Enterobacteriaceae (CRE) and Infection Control Recognize R i these organisms as epidemiologically important Understand the prevalence in your region Identify colonized and infected patients when present in the facility Implement regional and facility based interventions designed to stop the transmission i of these organisms Byrnes, G., Elkins, M. (2009). Introduction to Infection Control IN:Hazard Byrnes, G., Elkins, M. (2009). Introduction to Infection Control IN:Hazard Recognition and Control in Institutional Settings. CDC. (2012). Guidance for Control of CRE. 12 CRE Toolkit.
33 Genomics and Workplace Wellness Programs g
34 Value of Family History Traditionally focused on identification of mendelian disorders Predicts the risk of common health conditions Demonstrated to be positively associated with risk awareness and risk reducing behaviors Remains the cheapest genomic test available Guttmacher, A., et al. (2004). The family history-more important than ever. NEJM, 351, Hariri, i S., et al. (2006). Family history of type 2 diabetes: a population-based screening tool for prevention? GIM, 8, McCusker, M., et al. (2004). Family history of heart disease and cardiovascular disease riskreducing behaviors. GIM, 6,
35 Prevalence and Relative Risk Estimates due to Family History for Common Diseases Table 1. From: Yoon et al. (2002). Can family history be used as a tool for public health and preventive medicine? Genet Med, 4,
36 Purpose of a Pedigree Facilitates the identification of genetic syndromes. Aides the provider in establishing a presymptomatic diagnosis of a genetic disease Helps identify at risk individuals. Helps to establish patterns of inheritance. Ill i t i l d bi l i l Illuminates social and biological relationships.
37 Pedigree Red Flags Multiple affected individuals, especially if condition is rare Early age at diagnosis Multiple primary tumors Bilateral disease in paired organs Sudden cardiac death in a healthy individual Individuals i i with 3 or more pregnancy losses di l bl i th ff i Medical problems in the offspring of consanguinous parents
38 Genomics and the Nursing Workforce Study National Nursing Workforce Study in collaboration with ANA (NNWF) N 619 ANA House of Delegates (HOD) 244 National Coalition of Ethnic Minority Nurses (NCEMNA) 392 Expanding RN Scope of Practice: A 7347 Method for Introducing a New Competency into Nursing Practice (MINC) MINC Admin Only 439
39 Family History In the prior Took family Took family AGREED OR three months nurses seeing patients who history: Assessed age at dx history: Assessed maternal and STRONGLY AGREED that family history RARELY OR NEVER assessed a family history. NNWFS 67%, (n=288/510) 41% (n=200/483) paternal lineages 66% (n=320/484) taking should be a key component of nursing care 84% (n=369/442) HOD 58% (n=59/102) 51% 75% 91% (n=116/227) (n=168/224) (n=219/242) NCEMNA Not Done 64% (n=231/363) MINC 69% (n=3270/4774) 29% (n=1564/5348) 78% (n=280/361) 53% (n=2850/5336) Not assessed 71% (n=4051/5701) MINC 63% (n=91/294) 34% 64% 80% Admin (n=142/421) (n=267/420) (n=347/436)
40 Pharmacogenomic Influences Efficacy Toxicity -inducers -inhibitors Pharmacodynamics Target Pharmacokinetics PK = absorption, distribution, metabolism and excretion PD = mechanism of action, drug concentration and effect
41 Polymorphisms and Phenotype UM-Ultrarapid Metabolizer Unusually high activity of a drug metabolizing enzyme (DME) or drug transport protein (DTP) Limited response to recommended doses EM-Extensive Metabolizer Wild-type (normal activity) it form of a DME or DTP Expected efficacy at recommended doses IM-Intermediate Metabolizer Reduced activity of a DME or DTP Some decreased efficacy at recommended doses PM-Poor P Metabolizer Very low or no activity of a DME or DTP Increased toxicity Decreased efficacy at recommended d doses Katz et al. (2008). Defining drug disposition determinants: A pharmacogenetic pharmacokinetic strategy. Nature Reviews Drug Discovery, 7,
42 Indiana University P450 Drug Interaction Table
43 Ethical, Legal and Social Issues
44 What Is Genetic Discrimination? Social or economic discrimination or stigmatization based on one s genetic information denial of access to or increased cost of insurance loss of employment, educational, or other opportunities Insurance considerations if Health, Life, Long Term Care, Disability **Special consideration for the military
45 The Burlington Northern Santa Fe Railroad Story Paper published associating variations in PMP22 with peripheral neuropathy disorder-carpal tunnel syndrome Company develops and markets genetic test Burlington Northern incorporates genetic testing into workman s compensation evaluation for carpal tunnel Conducts this genetic test on 35 workers seeking workmen s compensation and/or medical care for carpel tunnel syndrome No consent or knowledge of the test t Termination threatened for failure to submit to the test Unauthorized genetic testing discovered by family February 9, 2001 Complaint filed-eeoc challenging genetic testing under ADA Burlington Northern stops testing and settles suits EEOC Press Releases, Washington DC, February and April,
46 Genetic Information Nondiscrimination Act (GINA) Forbids genetic discrimination in the workplace and in health Genetic G i information i broadly defined d Genetic test means a test that assess genotypes, mutations, or chromosomal changes. Genetic information means information about: a person s genetic tests genetic tests of a person s family members (up to and including fourth-degree relatives) any manifestation of a disease or disorder in a family member participation of a person or family member in research that includes genetic testing, counseling, or education Specific to group and individual insurance plans Forbids use of genetic information in underwriting Forbids requiring genetic testing by employers and insurers Genetics and Public Policy Center.: Information on the Genetic Information Nondiscrimination Act (GINA). ttp://
47 Scope of GINA Coverage Coverage Limitations Exclusions Forbids genetic discrimination in the workplace and in health insurance Genetic information broadly defined Specific to group and individual insurance plans Forbids use of genetic information in underwriting Forbids requiring genetic testing by employers and insurers Civil suit is restricted to those that have exhausted all administrative remedies Does not prohibit medical underwriting based on current health status Does not cover life, disability, and long-term care insurance Members of the United States military, veterans obtaining health care through the Veteran s Administration and the Indian Health Service
48 Resources Journal of Nursing Scholarship Genomic Special Issue Webinar Series with Issue Authors Genetics/Genomics Competency Center for Education (G2C2) 2 CDC Public Health Genomics Genomic Competency Listserv Leave business card or calzonek@mail.nih.gov
49 Questions/Discussion
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 informationThe National Institute of Genomic Medicine (INMEGEN) was
Genome is...... the complete set of genetic information contained within all of the chromosomes of an organism. It defines the particular phenotype of an individual. What is Genomics? The study of the
More informationGene Therapy and Genetic Counseling. Chapter 20
Gene Therapy and Genetic Counseling Chapter 20 What is Gene Therapy? Treating a disease by replacing, manipulating or supplementing a gene The act of changing an individual s DNA sequence to fix a non-functional
More informationBAP1 germline mutations A new Cutaneous Nevus Melanoma Syndrome. Thomas Wiesner
BAP1 germline mutations A new Cutaneous Nevus Melanoma Syndrome Thomas Wiesner Disclosure Listed as co-inventor US patent application US 61/463,389 BAP1 mutational analysis in determining susceptibility
More informationBRCA 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 informationpatient education Fact Sheet PFS007: BRCA1 and BRCA2 Mutations MARCH 2015
patient education Fact Sheet PFS007: BRCA1 and BRCA2 Mutations MARCH 2015 BRCA1 and BRCA2 Mutations Cancer is a complex disease thought to be caused by several different factors. A few types of cancer
More informationThe Human Genome Project. From genome to health From human genome to other genomes and to gene function Structural Genomics initiative
The Human Genome Project From genome to health From human genome to other genomes and to gene function Structural Genomics initiative June 2000 What is the Human Genome Project? U.S. govt. project coordinated
More informationDal germinale al somatico nella identificazione di tumori ereditari
Modena 18-19 novembre 2010 Dal germinale al somatico nella identificazione di tumori ereditari Laura Ottini Tendencies to develop cancer can be inherited Fletcher & Houlston, 2010 Cancer is a genetic disease
More informationGenetic 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 informationGriffith University - Case for Support. Mesothelioma Research Program
Griffith University - Case for Support Mesothelioma Research Program Professor Lyn Griffiths Director, Dean, Research and Director, Genomics Research Centre (GHI) Established in 2007. Integrated health
More informationGenetic 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 informationWhat is Pharmacogenomics? Personalization of Medications for You! Michigan State Medical Assistants Conference May 6, 2006
What is Pharmacogenomics? Personalization of Medications for You! Michigan State Medical Assistants Conference May 6, 2006 Debra Duquette, MS, CGC Genomics Coordinator Epidemiology Services Division Department
More informationWhat 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 informationLecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs)
Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Single nucleotide polymorphisms or SNPs (pronounced "snips") are DNA sequence variations that occur
More informationHow 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 informationGenetic Testing: Scientific Background for Policymakers
Genetic Testing: Scientific Background for Policymakers Amanda K. Sarata Specialist in Health Policy December 19, 2011 CRS Report for Congress Prepared for Members and Committees of Congress Congressional
More informationGENETIC 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 informationNon-Communicable Diseases and Occupational Health Opportunities and Challenges
Non-Communicable Diseases and Occupational Health Opportunities and Challenges Dr Ivan Ivanov, Dr Evelyn Kortum Global Occupational Health Programme Public Health and Environment Environmental factors
More information14.3 Studying the Human Genome
14.3 Studying the Human Genome Lesson Objectives Summarize the methods of DNA analysis. State the goals of the Human Genome Project and explain what we have learned so far. Lesson Summary Manipulating
More informationSchool of Nursing. Presented by Yvette Conley, PhD
Presented by Yvette Conley, PhD What we will cover during this webcast: Briefly discuss the approaches introduced in the paper: Genome Sequencing Genome Wide Association Studies Epigenomics Gene Expression
More informationMutations: 2 general ways to alter DNA. Mutations. What is a mutation? Mutations are rare. Changes in a single DNA base. Change a single DNA base
Mutations Mutations: 2 general ways to alter DNA Change a single DNA base Or entire sections of DNA can move from one place to another What is a mutation? Any change in the nucleotide sequence of DNA Here
More informationINTERNATIONAL CONFERENCE ON HARMONISATION OF TECHNICAL REQUIREMENTS FOR REGISTRATION OF PHARMACEUTICALS FOR HUMAN USE E15
INTERNATIONAL CONFERENCE ON HARMONISATION OF TECHNICAL REQUIREMENTS FOR REGISTRATION OF PHARMACEUTICALS FOR HUMAN USE ICH HARMONISED TRIPARTITE GUIDELINE DEFINITIONS FOR GENOMIC BIOMARKERS, PHARMACOGENOMICS,
More informationIf 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 information2013 Indiana Healthcare Provider and Hospital Administrator Multi-Drug Resistant Organism Survey
2013 Indiana Healthcare Provider and Hospital Administrator Multi-Drug Resistant Organism Survey Antibiotic resistance is a global issue that has significant impact in the field of infectious diseases.
More informationIntroduction to genetic testing and pharmacogenomics
Introduction to genetic testing and pharmacogenomics Cecile Janssens Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands (a.janssens@erasmusmc.nl) Genetic prediction of monogenic diseases
More informationScreenWise. Breast, Cervical, and Hereditary Cancer Screenings OCTOBER 28, 2015
ScreenWise Breast, Cervical, and Hereditary Cancer Screenings OCTOBER 28, 2015 ScreenWise Three programs working together to bring quality screening services to Oregon residents Why we all do this work
More informationITT Advanced Medical Technologies - A Programmer's Overview
ITT Advanced Medical Technologies (Ileri Tip Teknolojileri) ITT Advanced Medical Technologies (Ileri Tip Teknolojileri) is a biotechnology company (SME) established in Turkey. Its activity area is research,
More informationGENETICS AND GENOMICS IN NURSING PRACTICE SURVEY
GENETICS AND GENOMICS IN NURSING PRACTICE SURVEY Dear Registered Nurse: You are invited to take a survey that will evaluate primary issues in genetics and genomics. As the front line of care, nurses have
More informationPreparing for the Collection and Use of External Family History and Genetic Test Result Data
Preparing for the Collection and Use of External Family History and Genetic Test Result Data HL7 - More Than You Think HIMSS March 5, 2013 Grant M. Wood Intermountain Healthcare Clinical Genetics Institute
More informationtreatments) worked by killing cancerous cells using chemo or radiotherapy. While these techniques can
Shristi Pandey Genomics and Medicine Winter 2011 Prof. Doug Brutlag Chronic Myeloid Leukemia: A look into how genomics is changing the way we treat Cancer. Until the late 1990s, nearly all treatment methods
More informationStatement of Principles concerning MESOTHELIOMA (Balance of Probabilities) (No. 105 of 2015)
Statement of Principles concerning MESOTHELIOMA (Balance of Probabilities) (No. 105 of 2015) The Repatriation Medical Authority determines the following Statement of Principles under subsection 196B(3)
More information1 page Overview. CONCURRENT 1D, 1E, 1F Biology & Pathogenesis Multi-Modality Immunology 1
1 page Overview 21 Oct Tuesday 1500 on REGISTRATION 1800 Welcome Reception & Cocktails at the Cape Town International Conference Centre (CTICC) 22 Oct Wednesday 0730 REGISTRATION 0830 OPENING 0900 PLENARY
More informationA Genetic Analysis of Rheumatoid Arthritis
A Genetic Analysis of Rheumatoid Arthritis Introduction to Rheumatoid Arthritis: Classification and Diagnosis Rheumatoid arthritis is a chronic inflammatory disorder that affects mainly synovial joints.
More informationMesothelioma. Mesothelioma and Asbestos 11/21/2009
Mesothelioma Michele Carbone, M.D.,PH.D. Director Cancer Research Center of Hawaii Professor and Chairman, Dept. of Pathology J.A. Burns Medical School University of Hawaii Honolulu, HI 96813 Mesotheliomas
More informationMendelian inheritance and the
Mendelian inheritance and the most common genetic diseases Cornelia Schubert, MD, University of Goettingen, Dept. Human Genetics EUPRIM-Net course Genetics, Immunology and Breeding Mangement German Primate
More informationGENETIC CONSIDERATIONS IN CANCER TREATMENT AND SURVIVORSHIP
GENETIC CONSIDERATIONS IN CANCER TREATMENT AND SURVIVORSHIP WHO IS AT HIGH RISK OF HEREDITARY CANCER? Hereditary Cancer accounts for a small proportion of all cancer or approximately 5-10% THE DEVELOPMENT
More informationResumen Curricular de los Profesores. Jesse Boehm
Resumen Curricular de los Profesores Jesse Boehm Jesse Boehm is the assistant director of the Cancer Program at the Broad Institute. In this role, he works closely with Cancer Program director Todd Golub
More informationContents. molecular biology techniques. - Mutations in Factor II. - Mutations in MTHFR gene. - Breast cencer genes. - p53 and breast cancer
Contents Introduction: biology and medicine, two separated compartments What we need to know: - boring basics in DNA/RNA structure and overview of particular aspects of molecular biology techniques - How
More informationOverview 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 informationCystic Fibrosis Webquest Sarah Follenweider, The English High School 2009 Summer Research Internship Program
Cystic Fibrosis Webquest Sarah Follenweider, The English High School 2009 Summer Research Internship Program Introduction: Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and
More informationUnderstanding 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 informationStatement of Principles concerning MESOTHELIOMA (Reasonable Hypothesis) (No. 104 of 2015)
Statement of Principles concerning MESOTHELIOMA (Reasonable Hypothesis) (No. 104 of 2015) The Repatriation Medical Authority determines the following Statement of Principles under subsection 196B(2) of
More informationGenetic 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 informationGenomic Medicine The Future of Cancer Care. Shayma Master Kazmi, M.D. Medical Oncology/Hematology Cancer Treatment Centers of America
Genomic Medicine The Future of Cancer Care Shayma Master Kazmi, M.D. Medical Oncology/Hematology Cancer Treatment Centers of America Personalized Medicine Personalized health care is a broad term for interventions
More informationPrognosis for Healthcare: The Future of Medicine
Prognosis for Healthcare: The Future of Medicine Bruce M. Cohen, M.D., Ph.D. Director, Frazier Research Institute, McLean Hospital President and Psychiatrist in Chief Emeritus, McLean Hospital Robertson-Steele
More informationPage 1. Genetic Testing and Breast Cancer by Zales and Colosi
Genetic Testing and Breast Cancer: Is a Little Knowledge a Dangerous Thing? by Charlotte R. Zales, Education Department, Moravian College, Bethlehem, PA and Joseph C. Colosi, Biology Department, DeSales
More informationWhat is Cancer? Cancer is a genetic disease: Cancer typically involves a change in gene expression/function:
Cancer is a genetic disease: Inherited cancer Sporadic cancer What is Cancer? Cancer typically involves a change in gene expression/function: Qualitative change Quantitative change Any cancer causing genetic
More informationOne out of every two men and one out of every three women will have some type of cancer at some point during their lifetime. 3
1. What is cancer? 2. What causes cancer?. What causes cancer? 3. Can cancer be prevented? The Facts One out of every two men and one out of every three women will have some type of cancer at some point
More informationCancer Genomics: What Does It Mean for You?
Cancer Genomics: What Does It Mean for You? The Connection Between Cancer and DNA One person dies from cancer each minute in the United States. That s 1,500 deaths each day. As the population ages, this
More informationLung Cancer. This reference summary will help you better understand lung cancer and the treatment options that are available.
Lung Cancer Introduction Lung cancer is the number one cancer killer of men and women. Over 165,000 people die of lung cancer every year in the United States. Most cases of lung cancer are related to cigarette
More informationHow To Plan Healthy People 2020
Healthy California 2020 Initiative: Consensus Building on Top Priority Areas for CDPH Public Health Advisory Committee April 30, 2010 Introducing the CDPH Decision Framework Responding to public health
More informationM E S O T H E L I O M A Questions & Answers
M E S O T H E L I O M A Questions & Answers A G U I D E F O R M E S O T H E L I O M A P A T I E N T S A N D T H E I R L O V E D O N E S MORGAN & MORGAN FORTHEPEOPLE.COM 877-667-4265 Mesothelioma Questions
More informationHow Can Institutions Foster OMICS Research While Protecting Patients?
IOM Workshop on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials How Can Institutions Foster OMICS Research While Protecting Patients? E. Albert Reece, MD, PhD, MBA Vice
More informationMesothelioma. 1995-2013, The Patient Education Institute, Inc. www.x-plain.com ocft0101 Last reviewed: 03/21/2013 1
Mesothelioma Introduction Mesothelioma is a type of cancer. It starts in the tissue that lines your lungs, stomach, heart, and other organs. This tissue is called mesothelium. Most people who get this
More informationPharmacology skills for drug discovery. Why is pharmacology important?
skills for drug discovery Why is pharmacology important?, the science underlying the interaction between chemicals and living systems, emerged as a distinct discipline allied to medicine in the mid-19th
More informationUNIT 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 informationExploring the Role of Vitamins in Achieving a Healthy Heart
Exploring the Role of Vitamins in Achieving a Healthy Heart There are many avenues you can take to keep your heart healthy. The first step you should take is to have a medical professional evaluate the
More informationHereditary Ovarian cancer: BRCA1 and BRCA2. Karen H. Lu MD September 22, 2013
Hereditary Ovarian cancer: BRCA1 and BRCA2 Karen H. Lu MD September 22, 2013 Outline Hereditary Breast and Ovarian Cancer (HBOC) BRCA1/2 genes How to identify What it means to you What it means to your
More informationProstate Cancer Risk Epidemiology and Genetics. Robert F. Marschke, Jr., M.D. November 2, 2013
Prostate Cancer Risk Epidemiology and Genetics Robert F. Marschke, Jr., M.D. November 2, 2013 PROSTATE CANCER RISK FACTORS Age The risk of prostate cancer rises rapidly after age 50 years PROSTATE CANCER
More informationUpdate in Hematology Oncology Targeted Therapies. Mark Holguin
Update in Hematology Oncology Targeted Therapies Mark Holguin 25 years ago Why I chose oncology People How to help people with possibly the most difficult thing they may have to deal with Science Turning
More informationGenetic Testing for Cancer: What You Need to Know
Genetic Testing for Cancer: What You Need to Know Here is some basic information about genetic testing and how it s used to learn about inherited cancer risk. It will help you understand what genetic testing
More informationBREAST CANCER AWARENESS FOR WOMEN AND MEN by Samar Ali A. Kader. Two years ago, I was working as a bedside nurse. One of my colleagues felt
Ali A. Kader, S. (2010). Breast cancer awareness for women and men. UCQ Nursing Journal of Academic Writing, Winter 2010, 70 76. BREAST CANCER AWARENESS FOR WOMEN AND MEN by Samar Ali A. Kader Two years
More informationLESSON 3.5 WORKBOOK. How do cancer cells evolve? Workbook Lesson 3.5
LESSON 3.5 WORKBOOK How do cancer cells evolve? In this unit we have learned how normal cells can be transformed so that they stop behaving as part of a tissue community and become unresponsive to regulation.
More informationDeveloping VA GDx: An Informatics Platform to Capture and Integrate Genetic Diagnostic Testing Data into the VA Electronic Medical Record
Developing VA GDx: An Informatics Platform to Capture and Integrate Genetic Diagnostic Testing Data into the VA Electronic Medical Record Scott L. DuVall Jun 27, 2014 1 Julie Lynch Vickie Venne Dawn Provenzale
More informationTranscript for Asbestos Information for the Community
Welcome to the lecture on asbestos and its health effects for the community. My name is Dr. Vik Kapil and I come to you from the Centers for Disease Control and Prevention, Agency for Toxic Substances
More informationMedicare 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 informationCancer SBL101. James Gomes School of Biological Sciences Indian Institute of Technology Delhi
Cancer SBL101 James Gomes School of Biological Sciences Indian Institute of Technology Delhi All Figures in this Lecture are taken from 1. Molecular biology of the cell / Bruce Alberts et al., 5th ed.
More informationMolecular Genetic Testing in Public Health and Clinical Settings
Molecular Genetic Testing in Public Health and Clinical Settings Ira M. Lubin, PhD, FACMG Division of Laboratory Systems NCPDCID, CCID Centers for Disease Control and Prevention Atlanta, Georgia Disclaimers
More informationMCB 4934: Introduction to Genetics and Genomics in Health Care Section 125D Fall 2012 2 Credits
MCB 4934: Introduction to Genetics and Genomics in Health Care Section 125D Fall 2012 2 Credits Instructor Dr. Jennifer Drew Microbiology & Cell Science jdrew@ulf.edu Skype username: jennifercdrew I am
More informationGenetics and Breast Cancer. Elly Lynch, Senior Genetic Counsellor Manager, Austin Health Clinical Genetics Service
Genetics and Breast Cancer Elly Lynch, Senior Genetic Counsellor Manager, Austin Health Clinical Genetics Service Overview Background/Our Team What is the difference between sporadic/familial cancer? How
More information810.12. 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 informationCancer: Genetic testing can save lives
Cancer: Genetic testing can save lives Track chances of having a tumor's tendency among people with a history of disease cases in the family, but practice should not be trivialized and hurt even more who
More informationIf you were diagnosed with cancer today, what would your chances of survival be?
Q.1 If you were diagnosed with cancer today, what would your chances of survival be? Ongoing medical research from the last two decades has seen the cancer survival rate increase by more than 40%. However
More informationMUTATION, DNA REPAIR AND CANCER
MUTATION, DNA REPAIR AND CANCER 1 Mutation A heritable change in the genetic material Essential to the continuity of life Source of variation for natural selection New mutations are more likely to be harmful
More informationGene mutation and molecular medicine Chapter 15
Gene mutation and molecular medicine Chapter 15 Lecture Objectives What Are Mutations? How Are DNA Molecules and Mutations Analyzed? How Do Defective Proteins Lead to Diseases? What DNA Changes Lead to
More informationCHAPTER 2: UNDERSTANDING CANCER
CHAPTER 2: UNDERSTANDING CANCER INTRODUCTION We are witnessing an era of great discovery in the field of cancer research. New insights into the causes and development of cancer are emerging. These discoveries
More informationAsbestos and the diseases it causes
Asbestos and the diseases it causes October 2013 Liz Darlison Mesothelioma UK University Hospitals of Leicester Contents What is asbestos Why is it such an issue in the UK Disease Statistics Asbestos Related
More informationGenomics and Family History Survey Questions Updated March 2007 Compiled by the University of Washington Center for Genomics & Public Health
Genomics and Survey Questions Updated March 2007 Compiled by the University of Washington Center for Genomics & Public Health This publication is distributed free of charge and supported by CDC Grant #U10/CCU025038-2.
More informationAUSTRALIAN VIETNAM VETERANS Mortality and Cancer Incidence Studies. Overarching Executive Summary
AUSTRALIAN VIETNAM VETERANS Mortality and Cancer Incidence Studies Overarching Executive Summary Study Study A u s t ra l i a n N a t i o n a l S e r v i c e V i e t n a m Ve t e ra n s : M o r t a l i
More informationName of Policy: Genetic Testing for Hereditary Breast and/or Ovarian Cancer
Name of Policy: Genetic Testing for Hereditary Breast and/or Ovarian Cancer Policy #: 513 Latest Review Date: January 2014 Category: Laboratory Policy Grade: B Background/Definitions: As a general rule,
More informationMalignant Mesothelioma: an Update
Malignant Mesothelioma: an Update Nico van Zandwijk Asbestos Diseases Research Institute Bernie Banton Centre University of Sydney Australia Physicians Week RACP 19-5-2009 Health Risks of Asbestos Fibers
More informationThe Genetics of Early- Onset Breast Cancer. Cecelia Bellcross, Ph.D., M.S.,C.G.C. Department of Human Genetics Emory University School of Medicine
The Genetics of Early- Onset Breast Cancer Cecelia Bellcross, Ph.D., M.S.,C.G.C. Department of Human Genetics Emory University School of Medicine All cancers are genetic BUT Not all cancers are hereditary
More informationElectronic Medical Records and Genomics: Possibilities, Realities, Ethical Issues to Consider
Electronic Medical Records and Genomics: Possibilities, Realities, Ethical Issues to Consider Daniel Masys, M.D. Affiliate Professor Biomedical and Health Informatics University of Washington, Seattle
More informationConnecticut Diabetes Statistics
Connecticut Diabetes Statistics What is Diabetes? State Public Health Actions (1305, SHAPE) Grant March 2015 Page 1 of 16 Diabetes is a disease in which blood glucose levels are above normal. Blood glucose
More informationDiseases. Inflammations Non-inflammatory pleural effusions Pneumothorax Tumours
Pleura Visceral pleura covers lungs and extends into fissures Parietal pleura limits mediastinum and covers dome of diaphragm and inner aspect of chest wall. Two layers between them (pleural cavity) contains
More informationNOVEL PLATFORMS FOR CANCER DIAGNOSIS
NOVEL PLATFORMS FOR CANCER DIAGNOSIS Luca Beneduce, Ph.D. Founded in 2001 and headquartered in Venice (Italy) Xeptagen is a privately held biotech company funded by venture capital. Xeptagen s mission
More informationIntegrating Genetic Data into Clinical Workflow with Clinical Decision Support Apps
White Paper Healthcare Integrating Genetic Data into Clinical Workflow with Clinical Decision Support Apps Executive Summary The Transformation Lab at Intermountain Healthcare in Salt Lake City, Utah,
More informationUsing Family History to Improve Your Health Web Quest Abstract
Web Quest Abstract Students explore the Using Family History to Improve Your Health module on the Genetic Science Learning Center website to complete a web quest. Learning Objectives Chronic diseases such
More informationAsbestos Disease: An Overview for Clinicians Asbestos Exposure
Asbestos Asbestos Disease: An Overview for Clinicians Asbestos Exposure Asbestos: A health hazard Exposure to asbestos was a major occupational health hazard in the United States. The first large-scale
More informationHosts. New Methods for Treating Colorectal Cancer
Hosts Anees Chagpar MD Associate Professor of Surgical Oncology Francine MD Professor of Medical Oncology New Methods for Treating Colorectal Cancer Guest Expert: Scott, MD Associate Professor in the Department
More informationNebraska Occupational Health Indicator Report, 2013
Occupational Health Indicator Report, 213 Occupational Safety and Health Surveillance Program Department of Health and Human Services Web: www.dhhs.ne.gov/publichealth/occhealth/ Phone: 42-471-2822 Introduction
More informationPREAMBLE. Robert Wells, Chairman Public Policy Committee. Jeffery Cossman, M.D., Chairman Clinical Science Committee
PREAMBLE Although the first draft of the human genome was unveiled less than a decade ago, genetic information is fast becoming integrated into the everyday flow of data that impacts not only human health
More informationGENETIC DATA ANALYSIS
GENETIC DATA ANALYSIS 1 Genetic Data: Future of Personalized Healthcare To achieve personalization in Healthcare, there is a need for more advancements in the field of Genomics. The human genome is made
More informationProposed 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 informationJESSE HUANG ( 黄 建 始 ),MD,MHPE,MPH,MBA Professor of Epidemiology Assistant President
Breast Cancer Epidemiology i in China JESSE HUANG ( 黄 建 始 ),MD,MHPE,MPH,MBA Professor of Epidemiology Assistant President Chinese Academy of Medical Sciences Peking Union Medical College Medical Center
More informationSNP Essentials The same SNP story
HOW SNPS HELP RESEARCHERS FIND THE GENETIC CAUSES OF DISEASE SNP Essentials One of the findings of the Human Genome Project is that the DNA of any two people, all 3.1 billion molecules of it, is more than
More informationInformation 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 informationPREVENTION OF OCCUPATIONAL DISEASES
THE PREVENTION OF OCCUPATIONAL DISEASES World Day for safety and health at work 28 April 2013 Outline The hidden epidemic: a global picture Assessing the need for better data Steps for the prevention of
More informationDisease/Illness GUIDE TO ASBESTOS LUNG CANCER. What Is Asbestos Lung Cancer? www.simpsonmillar.co.uk Telephone 0844 858 3200
GUIDE TO ASBESTOS LUNG CANCER What Is Asbestos Lung Cancer? Like tobacco smoking, exposure to asbestos can result in the development of lung cancer. Similarly, the risk of developing asbestos induced lung
More informationHow Cancer Begins???????? Chithra Manikandan Nov 2009
Cancer Cancer is one of the most common diseases in the developed world: 1 in 4 deaths are due to cancer 1 in 17 deaths are due to lung cancer Lung cancer is the most common cancer in men Breast cancer
More information