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:

Educational Objectives:

• Define the basic concepts of genes, chromosomes and DNA

• Explain and understand the issues and implications surrounding genetic disorders and testing

• Identify and use resources for specific genetic informational needs

• Appreciate the significant ethical, legal, and social issues associated with genomic discoveries

Famous People with Genetic Disorders

• King George III and Mary Queen of Scots Porphyria – rare metabolic blood condition – episodes of irrational and demented behavior

Queen Victoria - haemophilia

• Impairs body’s ability to control blood clotting or coagulation

Dan Aykroyd

• Syndactyly or

webbed feet

Abraham Lincoln?

• Marfan Syndrome - disorder of the connective tissue

• People with the disorder tend to be unusually tall with long limbs and long thin fingers

• Geneticists now believe it is unlikely that he had it, although he had some of the normal characteristic features

David Bowie

• Heterochromia?

Top Ten Reasons You Should Care About Genetics

10. DNA is not just another four-letter word

9. Gattaca will be so much more enjoyable if you get genetics

8. You gotta know who to blame for your troubles – your mom and dad

7. Your DNA may link you to a celebrity or a historical figure

6. Genes make for good excuses

5. Specializing in genetics can help you get a job

Top Ten Reasons You Should Care About Genetics

4. Genetic technologies, especially DNA testing, save and improve lives

3. Gene-based diets and lifestyles will soon be the latest fad

2. Your unique genetic make-up will help you get personalized medicine

And the number 1 reason you should care about genetics is….

1. Genetics is cool*Taken from Genetics and Health blog, By Hsien Hsien Lei, PhD on General Genetics and Health

Google Trendsfor genetics, DNA, genes, genome

“Just the Facts”

• Definitions

– Genetics Home Reference Glossary:

http://ghr.nlm.nih.gov/glossary– NHGRI Talking Glossary:

http://www.genome.gov/10002096

“Just the Facts”

• Concepts– DNA from the Beginning: an animated primer:

http://www.dnaftb.org/dnaftb/– NOVA Online: Cracking the Code of Life

Video: http://www.pbs.org/wgbh/nova/genome/program.html

– Genetic Alliance: http://www.geneticalliance.org/

– Cracking Your Genetic Code: air date: 3/12 http://video.pbs.org/video/2215641935

Genetic Testing

• Analysis using small samples of blood or body tissue

• Determines whether individual carries genes for certain inherited disorders

• Can reveal presence, absence, or malformation of genes or chromosomes

• Complex tests that don’t yield easy-to-understand results

• Genetic testing dilemmas

Genetic Testing Registry

• Development announced March 2010, launched in early 2012• The NIH created a public database that researchers, consumers,

health care providers, and others can search for information submitted voluntarily by genetic test providers

• The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests

• Currently, more than 2500 genetic tests are available to patients and consumers, but there is no single public resource that provides detailed information about them. GTR is intended to fill that gap

• http://www.ncbi.nlm.nih.gov/gtr/

Genetic Counseling/Consultation

• Evaluating family history and medical records

• Ordering genetic tests

• Evaluating the results of investigation

• Helping people understand and reach decisions about what to do next

Genetics Counselors

• Master’s degree in medical genetics and counseling skills

• Certified exam administered by ABGC

• Identify and interpret risks of inherited disorders, explain inheritance patterns

• Suggest testing and lay out possible scenarios

Prenatal Counseling: Risk Factors

• If standard testing reveals abnormal result• If amniocentesis yields unexpected result• If either parent or close relative has inherited

disease or birth defect• If either parent already has children with birth

defects or genetic disorders• If mother-to-be has 2 or more miscarriages or

babies that died in infancy• If mother-to-be will be 35 or older when baby is born• If parents concerned about genetic defects that

occur frequently in ethnic or racial group

Counseling/Testing Resources

• Genetics Home Reference – genetic consultation: http://ghr.nlm.nih.gov/info=consultation

• GeneTests: http://www.genetests.org

• 23andMe: commercial kits for personal genetic testing

Human Genome Project

• Began in 1990, completed in 2003

• Goals:– Determine complete sequence of the 3 billion

DNA subunits (bases)– Identify all human genes– Make them accessible for further biological

study

The Unknown

• Gene number, exact locations and functions

• Gene regulation

• DNA sequence organization

• Chromosomal structure and organization

HGP Resources

• National Human Genome Research Institute: http://www.genome.gov

• Human Genome Resources: NCBI (National Center for Biotechnology Information): http://www.ncbi.nlm.nih.gov/About/human/index.html

• U.S. Department of Energy:

http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml

Patents

• 25% genes in human genome have associated patents

• Issued to encourage innovation, provide protection, allow opportunity for max. profits

• June 2000 – 2000 patents awarded and 25,000 pending

• 2010 – 40,000 patents that protect ~ 20 % of human genome

• Inhibit integration of personalized medicine?

DNA Patent Database

• Kennedy Institute of Ethics/Duke University

• Contains >50,000 DNA-based patents issued from 1971-present

• Contains >80,000 patent applications published 2001-present

• Supported by grants, no cost to public– http://dnapatents.georgetown.edu

Genetics Home Reference

• Launched April 2003• Summaries for 700 genetic conditions, 950

genes, and all human chromosomes• Glossary• Illustrated tutorial• MedlinePlus Health Topics• In 2011:

– 13,200 visitors daily (average)– 11.9 million page views/month (average)

Topic Selection

• MedlinePlus Health Topics

• Top 20 requests from Genetics and Rare Diseases (GARD) Information Center

• Federal initiatives (e.g. newborn screening)

• Failed search results on GHR

• Suggestions from expert reviewers and users

GHR Content

• Monitored to ensure accuracy and currency

• Topics comprehensively reviewed annually

• Genetics Home Reference: http://ghr.nlm.nih.gov

Gene Summaries

• Official name and symbol• Importance of normal function• Mutation field explains how mutations

affect normal function• Gene’s location and ideogram• Resources, different from condition

summary• Learning aids, includes glossary terms and

handbook links

Chromosomes Link

• Overview of chromosome with links to tables of identified genes and conditions for each chromosome

• Chromosomal disorders with an explanation of changes in chromosome number or structure that causes disorders

• Links to condition summaries

• Chromosome ideogram

Chromosomes Link(continued)

• Resources including chromosome-specific databases and web sites, information on chromosome abnormalities

• Learning aids, including glossary terms and handbook links

Family Health History

• Record of health information for you and your blood relatives

• Identify individuals at increased risk of developing conditions

• Key to your past and clues to future health• Talk to relatives about their health at

family gatherings or reunions• Take steps to reduce risk, share with

health care professional

Family History Resources

• 23andMe Relative Finder - http://www.youtube.com/watch?v=qG6BFjoXHvY

• NHGRI – http://www.genome.gov/27527640

• U.S. Surgeon General’s Family History Initiative:http://www.hhs.gov/familyhistory

Family History Resources

• National Society of Genetic Counselors:– Draw Your Family Tree

• 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

Genetic Disorders and Birth Defects: Other Resources

• MedlinePlus: Genetic Disorders: http://www.nlm.nih.gov/medlineplus/geneticdisorders.html

• Genetics Disorders and Birth Defects – Indiana University School of Medicine: http://geneinfo.medlib.iupui.edu

Other resources

• NORD – National Organization for Rare Disorders: http://www.rarediseases.org– One year subscription ~$450, some info free,

full reports for $7.50/each and database available at some public libraries

• Clinical Trials – http://clinicaltrials.gov

Some other fun resources

• Scitable – A free science library and personal tool from Nature Publishing Group

• Ion Torrent – ion proton sequencer

• Solve genetics cases – Science2Discover

• Online genetics games

• GeneWize – personalized medicine ad

• Genetic Engineering and Biotechnology News Channel (YouTube)

Social Media and Genetics

• LinkedIn groups – search groups

• Apps – examples: Crazy Genetics, talking glossary

• Facebook

• YouTube

• Blogs – examples InheritedHealth and Eye on DNA

Ethical, Legal and Social Issues

• Fears– Genetic information used to harm or

discriminate• Deny access to health insurance• Deny employment• Deny education• Deny loans?

Ethical, Legal and Social Issues

• Fear– Health information privacy– Health costs

• HIPAA banned certain uses of genetic info in determining insurance eligibility, but no limits on rate setting

– Burlington Northern Santa Fe Railroad case– Biologic vs. environment

Ethical, Legal and Social Issues

• Anti-discrimination laws– Americans with Disabilities Act – permits

employers to require a medical evaluation only under clearly specified circumstances

– Who can obtain and use genetic information to distinguish or discriminate?

– Clinician responsibility to discuss potential adverse consequences so patients can make informed choices re: proceed with testing

To tell or not to tell?

• Protect interests of patients

• Keep medical information confidential

• No absolutes

• Colon cancer case

• Ethical vs. legal obligations

Societal Concerns

• Who should have access to personal genetic information, and how will it be used?

– Fairness in the use of genetic information by insurers, employers, courts, schools, adoption agencies, military and others

Societal Concerns

• Who owns and controls genetic information?

– Privacy and confidentiality of genetic information

Societal Concerns

• How does personal genetic information affect an individual and society’s perceptions of that individual?

• How does genetic information affect members of minority communities?

– Psychological impact and stigmatization due to individual’s genetic differences

Societal Concerns

• Do healthcare personnel properly counsel parents about the risks and limitations of genetic technology?

• How reliable and useful is fetal genetic testing?

• What are the larger societal issues raised by new reproductive technologies?– Reproductive issues – adequate informed

consent, info in repro decision making, rights

Societal Concerns

• How will genetic tests be evaluated and regulated for accuracy, reliability and utility?

• How do we prepare healthcare professionals, the public?

• How does society balance current scientific limitations and social risk with long-term benefits?– Clinical issues including education of doctors, patients

and the general public

Societal Concerns

• Should testing be performed when no treatment is available?

• Should parents have the right to have their minor children tested for adult-onset diseases?

• Are genetic tests reliable and interpretable by the medical community?– Uncertainties with gene tests for susceptibilities and

complex conditions linked to multiple genes and gene-environment interactions

Societal Concerns

• Do people’s genes make them behave in a particular way?

• Can people always control their behavior?• What is considered acceptable diversity?• Where is the line between medical treatment

and enhancement?– Conceptual and philosophical implications regarding

human responsibility, free will vs. genetic determinism, and concepts of health and disease

Societal Concerns

• Are genetically modified foods and other products safe to humans and the environment?

• How will these technologies affect developing nations’ dependence on the West?– Health and environmental issues concerning

genetically modified foods and microbes

Societal Concerns

• Who owns genes and other pieces of DNA?

• Will patenting DNA sequences limit their accessibility and development into useful products?– Commercialization of products including

property rights (patents, copyrights and trade secrets) and accessibility of data and materials

GenETHX

• National Reference Center for Bioethics Literature

• National Information Resource on Ethics and Human Genetics

• Contains 30,000 + bibliographic citations to journal articles, books, audiovisuals, legal docs, news articles and reports

• http://bioethics.georgetown.edu/nirehg

NHGRI

• Policy and Legislation Database

• Comprised of state statutes and bills introduced during the 2007-2010 state legislative sessions

• Focuses on statutes and bills that address employment and insurance nondiscrimination and privacy issues

• http://www.genome.gov/PolicyEthics/LegDatabase/pubsearch.cfm

Consumer/Patron Question Scenarios

Ethical, Legal and Social Implications

Vignettes

Wrap-up

• Questions, Comments?

• Evaluation form

Terri Ottosen:tottosen@hshsl.umaryland.edu

Or 410-706-2855Thank You!