Terri Ottosen Consumer Health Outreach Coordinator National Network of Libraries of Medicine, Southeastern Atlantic Region...
Educational Objectives: <ul><li>Define the basic concepts of genes, chromosomes and DNA </li></ul><ul><li>Explain and unde...
 
Top Ten Reasons You Should Care About Genetics <ul><li>10. DNA is not just another four-letter word </li></ul><ul><li>9. G...
Top Ten Reasons You Should Care About Genetics <ul><li>4. Genetic technologies, especially DNA testing, save and improve l...
Google Trends for genetics, genes, genome, and DNA
“ Just the Facts” <ul><li>Definitions </li></ul><ul><ul><li>Alphabet Soup from Genetic Alliance:  http://www.geneticallian...
“ Just the Facts” <ul><li>Concepts </li></ul><ul><ul><li>DNA from the Beginning: an animated primer:  http://www.dnaftb.or...
Genetic Testing <ul><li>Analysis using small samples of blood or body tissue </li></ul><ul><li>Determines whether individu...
Genetic Counseling/Consultation <ul><li>Evaluating family history and medical records </li></ul><ul><li>Ordering genetic t...
Genetics Counselors <ul><li>Master’s degree in medical genetics and counseling skills </li></ul><ul><li>Certified exam adm...
Prenatal Counseling:  Risk Factors <ul><li>If standard testing reveals abnormal result </li></ul><ul><li>If amniocentesis ...
Counseling/Testing  Resources <ul><li>Genetics Home Reference – genetic consultation:  http://ghr.nlm.nih.gov/info=consult...
Human Genome Project <ul><li>Began in 1990 </li></ul><ul><li>Goals: </li></ul><ul><ul><li>Determine complete sequence of t...
The Unknown <ul><li>Gene number, exact locations and functions </li></ul><ul><li>Gene regulation </li></ul><ul><li>DNA seq...
HGP Resources <ul><li>National Human Genome Research Institute:  http://www.genome.gov </li></ul><ul><li>Human Genome Reso...
Patents <ul><li>25% genes in human genome have associated patents </li></ul><ul><li>Issued to encourage innovation, provid...
DNA Patent Database <ul><li>Kennedy Institute of Ethics </li></ul><ul><li>Contains >37,000 DNA-based patents issued from 1...
Genetics Home Reference <ul><li>Launched April 2003 </li></ul><ul><li>Summaries for 184 genetic conditions, 289 genes, and...
Topic Selection  <ul><li>MedlinePlus Health Topics </li></ul><ul><li>Top 20 requests from Genetics and Rare Diseases (GARD...
GHR Content <ul><li>Monitored to ensure accuracy and currency </li></ul><ul><li>Topics comprehensively reviewed annually <...
Gene Summaries <ul><li>Official name and symbol </li></ul><ul><li>Importance of normal function </li></ul><ul><li>Mutation...
Chromosomes Link <ul><li>Overview of chromosome with links to tables of identified genes and conditions for each chromosom...
Chromosomes Link (continued) <ul><li>Resources including chromosome-specific databases and web sites, information on chrom...
Family Health History <ul><li>Record of health information for you and your blood relatives </li></ul><ul><li>Identify ind...
Family History Resources <ul><li>GHR – </li></ul><ul><li>List of links: </li></ul><ul><li>http://ghr.nlm.nih.gov/spotlight...
Family History Resources <ul><li>National Society of Genetic Counselors: </li></ul><ul><li>http://www.nsgc.org/consumer/fa...
Genetic Disorders and Birth Defects: Other Resources <ul><li>MedlinePlus: Genetic Disorders:  http://www.nlm.nih.gov/medli...
Other resources <ul><li>NORD – National Organization for Rare Disorders:  http://www.rarediseases.org </li></ul><ul><ul><l...
Ethical, Legal  and Social Issues <ul><li>Fears </li></ul><ul><ul><li>Genetic information used to harm or discriminate </l...
Ethical, Legal and  Social Issues <ul><li>Fear </li></ul><ul><ul><li>Health information privacy </li></ul></ul><ul><ul><li...
Ethical, Legal and  Social Issues <ul><li>Anti-discrimination laws </li></ul><ul><ul><li>Americans with Disabilities Act –...
To tell or not to tell? <ul><li>Protect interests of patients </li></ul><ul><li>Keep medical information confidential </li...
Societal Concerns <ul><li>Who should have access to personal genetic information, and how will it be used? </li></ul><ul><...
Societal Concerns <ul><li>Who owns and controls genetic information? </li></ul><ul><ul><li>Privacy and confidentiality of ...
Societal Concerns <ul><li>How does personal genetic information affect an individual and society’s perceptions of that ind...
Societal Concerns <ul><li>Do healthcare personnel properly counsel parents about the risks and limitations of genetic tech...
Societal Concerns <ul><li>How will genetic tests be evaluated and regulated for accuracy, reliability and utility? </li></...
Societal Concerns <ul><li>Should testing be performed when no treatment is available? </li></ul><ul><li>Should parents hav...
Societal Concerns <ul><li>Do people’s genes make them behave in a particular way? </li></ul><ul><li>Can people always cont...
Societal Concerns <ul><li>Are genetically modified foods and other products safe to humans and the environment? </li></ul>...
Societal Concerns <ul><li>Who owns genes and other pieces of DNA? </li></ul><ul><li>Will patenting DNA sequences limit the...
GenETHX <ul><li>National Reference Center for Bioethics Literature </li></ul><ul><li>National Information Resource on Ethi...
<ul><li>Consumer/Patron Question Scenarios </li></ul>
<ul><li>EXERCISES </li></ul>
Wrap-up <ul><li>Questions, Comments? </li></ul><ul><li>Evaluation form </li></ul><ul><li>Terri Ottosen: </li></ul><ul><li>...
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  1. 1. Terri Ottosen Consumer Health Outreach Coordinator National Network of Libraries of Medicine, Southeastern Atlantic Region Unraveling the Mysteries of Genetics Information for Consumers S of DNA:
  2. 2. Educational Objectives: <ul><li>Define the basic concepts of genes, chromosomes and DNA </li></ul><ul><li>Explain and understand the issues and implications surrounding genetic disorders and testing </li></ul><ul><li>Identify and use resources for specific genetic informational needs </li></ul><ul><li>Appreciate the significant ethical, legal, and social issues associated with genomic discoveries </li></ul>
  3. 4. Top Ten Reasons You Should Care About Genetics <ul><li>10. DNA is not just another four-letter word </li></ul><ul><li>9. Gattaca will be so much more enjoyable if you get genetics </li></ul><ul><li>8. You gotta know who to blame for your troubles – your mom and dad </li></ul><ul><li>7. Your DNA may link you to a celebrity or a historical figure </li></ul><ul><li>6. Genes make for good excuses </li></ul><ul><li>5. Specializing in genetics can help you get a job </li></ul>
  4. 5. Top Ten Reasons You Should Care About Genetics <ul><li>4. Genetic technologies, especially DNA testing, save and improve lives </li></ul><ul><li>3. Gene-based diets and lifestyles will soon be the latest fad </li></ul><ul><li>2. Your unique genetic make-up will help you get personalized medicine </li></ul><ul><li>And the number 1 reason you should care about genetics is…. </li></ul><ul><li>1. Genetics is cool </li></ul><ul><li>* Taken from Genetics and Health blog, By Hsien Hsien Lei, PhD on General Genetics and Health </li></ul>
  5. 6. Google Trends for genetics, genes, genome, and DNA
  6. 7. “ Just the Facts” <ul><li>Definitions </li></ul><ul><ul><li>Alphabet Soup from Genetic Alliance: http://www.geneticalliance.org </li></ul></ul><ul><ul><li>NHGR Talking Glossary: http://www.genome.gov/10002096 </li></ul></ul>
  7. 8. “ Just the Facts” <ul><li>Concepts </li></ul><ul><ul><li>DNA from the Beginning: an animated primer: http://www.dnaftb.org/dnaftb/ </li></ul></ul><ul><ul><li>NOVA Online: Cracking the Code of Life Video: http://www.pbs.org/wgbh/nova/genome/program.html </li></ul></ul>
  8. 9. Genetic Testing <ul><li>Analysis using small samples of blood or body tissue </li></ul><ul><li>Determines whether individual carries genes for certain inherited disorders </li></ul><ul><li>Can reveal presence, absence, or malformation of genes or chromosomes </li></ul><ul><li>Complex tests that don’t yield easy-to-understand results </li></ul>
  9. 10. Genetic Counseling/Consultation <ul><li>Evaluating family history and medical records </li></ul><ul><li>Ordering genetic tests </li></ul><ul><li>Evaluating the results of investigation </li></ul><ul><li>Helping people understand and reach decisions about what to do next </li></ul>
  10. 11. Genetics Counselors <ul><li>Master’s degree in medical genetics and counseling skills </li></ul><ul><li>Certified exam administered by ABGC </li></ul><ul><li>Identify and interpret risks of inherited disorders, explain inheritance patterns </li></ul><ul><li>Suggest testing and lay out possible scenarios </li></ul>
  11. 12. Prenatal Counseling: Risk Factors <ul><li>If standard testing reveals abnormal result </li></ul><ul><li>If amniocentesis yields unexpected result </li></ul><ul><li>If either parent or close relative has inherited disease or birth defect </li></ul><ul><li>If either parent already has children with birth defects or genetic disorders </li></ul><ul><li>If mother-to-be has 2 or more miscarriages or babies that died in infancy </li></ul><ul><li>If mother-to-be will be 35 or older when baby is born </li></ul><ul><li>If parents concerned about genetic defects that occur frequently in ethnic or racial group </li></ul>
  12. 13. Counseling/Testing Resources <ul><li>Genetics Home Reference – genetic consultation: http://ghr.nlm.nih.gov/info=consultation </li></ul><ul><li>GeneTests: http://www.genetests.org </li></ul>
  13. 14. Human Genome Project <ul><li>Began in 1990 </li></ul><ul><li>Goals: </li></ul><ul><ul><li>Determine complete sequence of the 3 billion DNA subunits (bases) </li></ul></ul><ul><ul><li>Identify all human genes </li></ul></ul><ul><ul><li>Make them accessible for further biological study </li></ul></ul>
  14. 15. The Unknown <ul><li>Gene number, exact locations and functions </li></ul><ul><li>Gene regulation </li></ul><ul><li>DNA sequence organization </li></ul><ul><li>Chromosomal structure and organization </li></ul>
  15. 16. HGP Resources <ul><li>National Human Genome Research Institute: http://www.genome.gov </li></ul><ul><li>Human Genome Resources: NCBI (National Center for Biotechnology Information): http://www.ncbi.nlm.nih.gov/About/human/index.html </li></ul><ul><li>CNN news item: http://www.cnn.com/SPECIALS/2000/genome/story/overview/ </li></ul>
  16. 17. Patents <ul><li>25% genes in human genome have associated patents </li></ul><ul><li>Issued to encourage innovation, provide protection, allow opportunity for max. profits </li></ul><ul><li>June 2000 – 2000 patents awarded and 25,000 pending </li></ul><ul><li>Inhibit integration of personalized medicine? </li></ul>
  17. 18. DNA Patent Database <ul><li>Kennedy Institute of Ethics </li></ul><ul><li>Contains >37,000 DNA-based patents issued from 1971-present </li></ul><ul><li>Contains >35,000 patent applications published 2001-present </li></ul><ul><li>Supported by grants, no cost to public </li></ul><ul><ul><li>http://dnapatents.georgetown.edu </li></ul></ul>
  18. 19. Genetics Home Reference <ul><li>Launched April 2003 </li></ul><ul><li>Summaries for 184 genetic conditions, 289 genes, and all human chromosomes </li></ul><ul><li>Glossary </li></ul><ul><li>Illustrated tutorial </li></ul><ul><li>Links to 103 MedlinePlus Health Topics </li></ul><ul><li>In 2005: </li></ul><ul><ul><li>4400 visitors daily </li></ul></ul><ul><ul><li>3.3 million hits/month </li></ul></ul>
  19. 20. Topic Selection <ul><li>MedlinePlus Health Topics </li></ul><ul><li>Top 20 requests from Genetics and Rare Diseases (GARD) Information Center </li></ul><ul><li>Federal initiatives (e.g. newborn screening) </li></ul><ul><li>Failed search results on GHR </li></ul><ul><li>Suggestions from expert reviewers and users </li></ul>
  20. 21. GHR Content <ul><li>Monitored to ensure accuracy and currency </li></ul><ul><li>Topics comprehensively reviewed annually </li></ul><ul><li>Genetics Home Reference: http://ghr.nlm.nih.gov </li></ul>
  21. 22. Gene Summaries <ul><li>Official name and symbol </li></ul><ul><li>Importance of normal function </li></ul><ul><li>Mutation field explains how mutations affect normal function </li></ul><ul><li>Gene’s location and ideogram </li></ul><ul><li>Resources, different from condition summary </li></ul><ul><li>Learning aids, includes glossary terms and handbook links </li></ul>
  22. 23. Chromosomes Link <ul><li>Overview of chromosome with links to tables of identified genes and conditions for each chromosome </li></ul><ul><li>Chromosomal disorders with an explanation of changes in chromosome number or structure that causes disorders </li></ul><ul><li>Links to condition summaries </li></ul><ul><li>Chromosome ideogram </li></ul>
  23. 24. Chromosomes Link (continued) <ul><li>Resources including chromosome-specific databases and web sites, information on chromosome abnormalities </li></ul><ul><li>Learning aids, including glossary terms and handbook links </li></ul>
  24. 25. Family Health History <ul><li>Record of health information for you and your blood relatives </li></ul><ul><li>Identify individuals at increased risk of developing conditions </li></ul><ul><li>Key to your past and clues to future health </li></ul><ul><li>Talk to relatives about their health at family gatherings or reunions </li></ul><ul><li>Take steps to reduce risk, share with health care professional </li></ul>
  25. 26. Family History Resources <ul><li>GHR – </li></ul><ul><li>List of links: </li></ul><ul><li>http://ghr.nlm.nih.gov/spotlight=familyhistory </li></ul><ul><li>U.S. Surgeon General’s Family History Initiative: </li></ul><ul><li>http://www.hhs.gov/familyhistory </li></ul>
  26. 27. Family History Resources <ul><li>National Society of Genetic Counselors: </li></ul><ul><li>http://www.nsgc.org/consumer/familytree </li></ul><ul><li>Your “pedigree” – include age or date of birth or if relative passed away, age at death and medical problems such as cancer, heart disease, diabetes, asthma, mental illness, hbp, stroke, alcoholism </li></ul>
  27. 28. Genetic Disorders and Birth Defects: Other Resources <ul><li>MedlinePlus: Genetic Disorders: http://www.nlm.nih.gov/medlineplus/geneticdisorders.html </li></ul><ul><li>Genetics Disorders and Birth Defects – Indiana University School of Medicine: http://geneinfo.medlib.iupui.edu </li></ul>
  28. 29. Other resources <ul><li>NORD – National Organization for Rare Disorders: http://www.rarediseases.org </li></ul><ul><ul><li>One year subscription ~$450, some info free </li></ul></ul><ul><li>CHID – Combined Health Information Database: discontinued Sept. 2006 </li></ul><ul><li>Clinical Trials – http://clinicaltrials.gov </li></ul>
  29. 30. Ethical, Legal and Social Issues <ul><li>Fears </li></ul><ul><ul><li>Genetic information used to harm or discriminate </li></ul></ul><ul><ul><ul><li>Deny access to health insurance </li></ul></ul></ul><ul><ul><ul><li>Deny employment </li></ul></ul></ul><ul><ul><ul><li>Deny education </li></ul></ul></ul><ul><ul><ul><li>Deny loans? </li></ul></ul></ul>
  30. 31. Ethical, Legal and Social Issues <ul><li>Fear </li></ul><ul><ul><li>Health information privacy </li></ul></ul><ul><ul><li>Health costs </li></ul></ul><ul><ul><ul><li>HIPAA banned certain uses of genetic info in determining insurance eligibility, but no limits on rate setting </li></ul></ul></ul><ul><ul><li>Burlington Northern Santa Fe Railroad case </li></ul></ul><ul><ul><li>Biologic vs. environment </li></ul></ul>
  31. 32. Ethical, Legal and Social Issues <ul><li>Anti-discrimination laws </li></ul><ul><ul><li>Americans with Disabilities Act – permits employers to require a medical evaluation only under clearly specified circumstances </li></ul></ul><ul><ul><li>Who can obtain and use genetic information to distinguish or discriminate? </li></ul></ul><ul><ul><li>Clinician responsibility to discuss potential adverse consequences so patients can make informed choices re: proceed with testing </li></ul></ul>
  32. 33. To tell or not to tell? <ul><li>Protect interests of patients </li></ul><ul><li>Keep medical information confidential </li></ul><ul><li>No absolutes </li></ul><ul><li>Colon cancer case </li></ul><ul><li>Ethical vs. legal obligations </li></ul>
  33. 34. Societal Concerns <ul><li>Who should have access to personal genetic information, and how will it be used? </li></ul><ul><ul><li>Fairness in the use of genetic information by insurers, employers, courts, schools, adoption agencies, military and others </li></ul></ul>
  34. 35. Societal Concerns <ul><li>Who owns and controls genetic information? </li></ul><ul><ul><li>Privacy and confidentiality of genetic information </li></ul></ul>
  35. 36. Societal Concerns <ul><li>How does personal genetic information affect an individual and society’s perceptions of that individual? </li></ul><ul><li>How does genetic information affect members of minority communities? </li></ul><ul><ul><li>Psychological impact and stigmatization due to individual’s genetic differences </li></ul></ul>
  36. 37. Societal Concerns <ul><li>Do healthcare personnel properly counsel parents about the risks and limitations of genetic technology? </li></ul><ul><li>How reliable and useful is fetal genetic testing? </li></ul><ul><li>What are the larger societal issues raised by new reproductive technologies? </li></ul><ul><ul><li>Reproductive issues – adequate informed consent, info in repro decision making, rights </li></ul></ul>
  37. 38. Societal Concerns <ul><li>How will genetic tests be evaluated and regulated for accuracy, reliability and utility? </li></ul><ul><li>How do we prepare healthcare professionals, the public? </li></ul><ul><li>How does society balance current scientific limitations and social risk with long-term benefits? </li></ul><ul><ul><li>Clinical issues including education of doctors, patients and the general public </li></ul></ul>
  38. 39. Societal Concerns <ul><li>Should testing be performed when no treatment is available? </li></ul><ul><li>Should parents have the right to have their minor children tested for adult-onset diseases? </li></ul><ul><li>Are genetic tests reliable and interpretable by the medical community? </li></ul><ul><ul><li>Uncertainties with gene tests for susceptibilities and complex conditions linked to multiple genes and gene-environment interactions </li></ul></ul>
  39. 40. Societal Concerns <ul><li>Do people’s genes make them behave in a particular way? </li></ul><ul><li>Can people always control their behavior? </li></ul><ul><li>What is considered acceptable diversity? </li></ul><ul><li>Where is the line between medical treatment and enhancement? </li></ul><ul><ul><li>Conceptual and philosophical implications regarding human responsibility, free will vs. genetic determinism, and concepts of health and disease </li></ul></ul>
  40. 41. Societal Concerns <ul><li>Are genetically modified foods and other products safe to humans and the environment? </li></ul><ul><li>How will these technologies affect developing nations’ dependence on the West? </li></ul><ul><ul><li>Health and environmental issues concerning genetically modified foods and microbes </li></ul></ul>
  41. 42. Societal Concerns <ul><li>Who owns genes and other pieces of DNA? </li></ul><ul><li>Will patenting DNA sequences limit their accessibility and development into useful products? </li></ul><ul><ul><li>Commercialization of products including property rights (patents, copyrights and trade secrets) and accessibility of data and materials </li></ul></ul>
  42. 43. GenETHX <ul><li>National Reference Center for Bioethics Literature </li></ul><ul><li>National Information Resource on Ethics and Human Genetics </li></ul><ul><li>Contains 31,500 + bibliographic citations to journal articles, books, audiovisuals, legal docs, news articles and reports </li></ul><ul><li>http://bioethics.georgetown.edu/nirehg </li></ul>
  43. 44. <ul><li>Consumer/Patron Question Scenarios </li></ul>
  44. 45. <ul><li>EXERCISES </li></ul>
  45. 46. Wrap-up <ul><li>Questions, Comments? </li></ul><ul><li>Evaluation form </li></ul><ul><li>Terri Ottosen: </li></ul><ul><li>[email_address] </li></ul><ul><li>Or 410-706-2855 </li></ul><ul><li>Thank You! </li></ul>
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