# Presentation: 137402

## Terri Ottosen
Consumer Health Outreach Coordinator
National Network of Libraries of Medicine, Southeastern Atlantic Region

- Consumer Health Outreach Coordinator
- National Network of Libraries of Medicine, Southeastern Atlantic Region

- Unraveling the Mysteries of Genetics Information for Consumers

- S of DNA:

**Notes:**
Introductions. Interest in Genetics: heterochromia, like the baby on the cover sheet. Common in dalmations, siamese cats, siberian huskies. Approximately 1:10,000 cats and dogs and 1:1million in people. Also called odd eyes. Often in white cats, but they are also often deaf. Come from a small town in SW Virginia, was not tested for possible genetic conditions associated with odd eyes. Chromosome 22 abnormality. David Bowie often given as an example, but his was result of trauma; punched in the eye at the age of 12.

## 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

**Notes:**
Like no other topic in science, I believe, genetics affects us every day in tangible ways. It can affect your choices at the grocery store in terms of genetically modified food, it can have a profound affect on your daily health. Some researchers believe that genes shape our inborn frame of mind or temperment. We will be discussing the topics of genes, chromosomes, DNA concepts, terms, definitions, genetic consultation and testing, human genome project, genetic disorders, internet resources for people needing this information. We’ll be doing a family health history exercise and will also be discussing the ethical, legal and social issues surrounding the topic. Will be doing some hands-on activities including patron question scenarios in groups and exploring online resources using individual exercises. We will start with a 30 minute film, which expertly introduces the concepts of genes, chromosomes and DNA and acts as a review if you’re already familiar with the concepts.

**Notes:**
Discussion of film: points to bring up for comments: approx. 60% same DNA as a fruit fly and even greater for a rat. Amazing that a single molecule contains the instructions for life: 100 million base pairs in one molecule. There are no mysterious life forces, just the essence of life explained by chemistry. Single letter mistake produces terrible consequences. Sequencing of the human genome compared with man landing on the moon. Agree? Disagree? Why? Potentially controversial statement: the evolutionary truth: that all species descended from common ancestor. Think we are at a critical stage in evolution, how we use it carries enormous responsibility and is the key to our past and our future.

## 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

**Notes:**
Gattaca is film with Ethan Hawke and Uma Thurman. The plot: Gattaca Corp. is an aerospace firm in the future. During this time society analyzes your DNA and determines where you belong in life. Ethan Hawke's character was born with a congenital heart condition which would cast him out of getting a chance to travel in space. So in turn he assumes the identity of an athlete who has genes that would allow him to achieve his dream of space travel. He is one of the last "natural" babies born into a sterile, genetically-enhanced world, where life expectancy and disease likelihood are ascertained at birth. Myopic and due to die at 30, he has no chance of a career in a society that now discriminates against your genes, instead of your gender, race or religion.

## 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

**Notes:**
If you’re a blog reader, I highly recommend Dr. Lei’s blog, where he posted these top 10 reasons. He keeps you informed of happenings in the genetics field in an entertaining way.

## Google Trendsfor genetics, genes, genome, and DNA

**Notes:**
The green lines represent searches for DNA. The blue, genetics, the red, genes, and yellow, genome. In the last couple of years, there doesn’t appear to have been an increase in the number of searches for terms related to genetics. In fact, there appears to be a slight decrease in searches. Does that signal a growing complacency about genetics in everyday life, a belief that it’s no longer anything special? 
In contrast, the news reference volume for the term DNA has increased (while the others have stayed about the same). This is clearly a reflection of the growing use of DNA testing for solving crime.
And what countries search for these terms the most?
1. India2. Philippines3. Ireland4. United States5. New Zealand6. Australia7. Canada8. United Kingdom9. Israel10. Switzerland
Why do two developing countries top the list for searches on genetics terms? Could it signal an up-and-coming genome revolution there? In five years, we may begin to see an explosion of genetics research and diagnostic tests coming out of these and other developing countries. It bears watching. Although there is generally less interest in this type of information by the public or consumers now,  I believe five or ten years from now, it will be critical that we librarians be able to assist people needing this information to make critical health decisions. The more we understand, the better we can help.

## “Just the Facts”

- Definitions
- Alphabet Soup from Genetic Alliance: _[http://www.geneticalliance.org](http://www.geneticalliance.org/)_
- NHGR Talking Glossary:  _[http://www.genome.gov/10002096](http://www.genome.gov/10002096)_

**Notes:**
On the Genetic Alliance page, click on the about us and any other tab of interest. Press Room has some great resources. Press Room available under About Us tab.
From home page, show alphabetical listings of Disease Info search and use example such as Tay-Sachs or Maple Syrup Urine Disease, hit expand all and show resources. Click on tab that takes you to portal of NLM resources. Brings you to a customized page where an automatic search for the disorder has already been conducted within NLM resources. Then show email signup to receive research updates using MyNCBI. Logon with your i.d. to show searches saved.  This is a newly implemented joint project in April 2007 between Genetic Alliance and NCBI. Press release of this announcement is available in Press Room and titled: Genetic Alliance Introduces New Web Resource for....
Description of what’s in here: 1) disease descriptions from NCBI’s Genes and Disease Online Book, 2) GHR, 3) M+; dx, tx, drs. Health orgs, etc., 4) gene tests, 5) clinicaltrials.gov, 6) med. Dictionary and encyclopedia, 7) primers and tutorials on DNA, genetics, etc., 8) scientific research publications in scientific journals from PubMed and PubMed Central, and 9) technical info about genes, DNA sequences, chromosomes, protein structures, etc.

Under org search, show can be searched alphabetical or services, choose services, then clinical or treatment centers to show.

Under resource repository, click on Advanced search, browse by authors or recent articles, choose recent articles to show most recent 20 articles. Also use search box and type in newborn screening and show results.

For NHGR Talking Glossary, needs Real Player to listen to definitions. Also available in Spanish. Intended to assist those with non-scientific background. Click on two examples, such as BRCA1/2 and apoptosis. Show links on the right, including fact sheets, (show a fact sheet such as chromosome) and spanish talking glossary. Also click on educational resources tab along the top.

## “Just the Facts”

- Concepts
- DNA from the Beginning: an animated primer: _[http://www.dnaftb.org/dnaftb/](http://www.dnaftb.org/dnaftb/)_
- NOVA Online: Cracking the Code of Life Video:  _[http://www.pbs.org/wgbh/nova/genome/program.html](http://www.pbs.org/wgbh/nova/genome/program.html)_

**Notes:**
Show each module from Molecules of Genetics on DNA from the Beginning primer including animations, clips, bios and factoids. (Need Flash Player and Quicktime)

For NOVA Online: Show chapters available for viewing. Show “finish line” or “finding disease genes” and option of captions on/off.

## 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

**Notes:**
Now let’s get a little deeper into the subject and talk about genetic consultation and testing. Unlike our parents, people today have the option of genetic testing. These tests identify the likelihood of passing certain genetic diseases or disorders (those caused by a defect in the genes) to your children. Genetic tests don’t yield easy-to-understand results. Deciphering what these complex tests mean is where a genetic counselor comes in.

## 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

**Notes:**
Genetic counseling is the process of: slide points above.

## 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

**Notes:**
Genetics counselors are professionals who have completed a masters program and then have to pass a certification exam administered by the American Board of Genetic Counseling. They explain the meaning of the medical science involved, provide support and address any emotional issues often raised by the results. Most couples planning a pregnancy or who are expecting, don’t need genetic counseling. About 3% of babies of born with birth defects each year according to the CDC and of the malformations that do occur, the most common are also the most treatable. Cleft palate and club-foot, 2 of the most common, can be surgically repaired, as can many heart malformations. The best time to seek genetic counseling is before pregnancy, when counseling can help assess risk factors. Even after pregnant, a meeting with a counselor can still be helpful. For example, babies have been diagnosed with Spina Bifida before birth. Recent research suggests that delivering baby with SB via c-section can minimize the damage to the baby’s spine and perhaps reduce the likelihood child will need a wheelchair.

## 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

**Notes:**
Individuals should consider genetic counseling if these risk factors above apply. The last item examples are to those of African descent, such as sickle cell or for Cajun or Irish descent, Tay-Sachs.

## Counseling/Testing Resources

- Genetics Home Reference – genetic consultation: _[http://ghr.nlm.nih.gov/info=consultation](http://ghr.nlm.nih.gov/info=consultation)_
- GeneTests: _[http://www.genetests.org](http://www.genetests.org/)_

**Notes:**
Consumers may ask about genetic counseling or consultation services. There are some excellent resources for locating basic information on these services and finding counselors and information on gene tests available. The GHR genetic consultation information covers what it is, who might have it and what happens during a genetic consultation.  (demo the NSGC Directory of Genetic Counselors by zip code and advanced search)

Gene Tests: This is a publicly-funded medical genetics information resource for health professionals and researchers, but anyone can use it. It promotes use of genetic services in patient care and personal decision-making. It contains gene reviews, which are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management and genetic counseling of patients and families with specific inherited conditions. It also offers lab and clinic directories and educational materials, including an illustrated glossary and ppt presentations. By special request, summary reports of certain aggregate testing and lab data are available. Some examples of these reports: # labs offering testing for specific diseases and methodologies used, lists of diseases in database for which testing is available, and the gene, locus (which is the physical site or location of a specific gene on a chromosome) and product information for each disease in the database. A formal request process is required for these reports, which includes written documentation of the purpose of the request.  

Important to refer consumers to reputable counseling services and testing resources. An item in the Sept. 06 NIH News in Health encourages people to stay skeptical about genetic testing. U.S. GAO purchased genetic tests from 4 web sites and created fictitious consumers to see the results. They submitted 12 samples taken from 2 people, telling the companies that they came from adults with various ages, weights, and lifestyles. Their conclusions were that the results from all the tests would mislead consumers by making predictions that were either medically unproven or so ambiguous that they don’t provide meaningful info. The fictitious consumers should have received the same recommendations when their genes came from the same person. Instead, they received a variety of different recommendations depending on their fictitious lifestyles. Some results recommended costly dietary supplements. One suggested “personalized” supps costing over $1000/year. After examining the ingredients though, the GAO found that the same vitamins and antioxidants could be found in any grocery store for about $35/year. NIH’s recommendation: take only genetic tests recommended and given by trained medical professionals. In recent years, the NIH created a task force whose purpose was to review genetic testing in the U.S., make recommendations to ensure the development of safe and effective genetic tests with consideration of social, legal and ethical implications. Current practices review produced a need for recommendations because it found that some tests are introduced before they’re demonstrated to be safe, effective and useful, there’s no assurance that every lab meets standards, and the informational materials distributed by labs often don’t provide sufficient info for full understanding. 

## Human Genome Project

- Began in 1990
- Goals:
- Determine complete sequence of the 3 billion DNA subunits (bases)
- Identify all human genes
- Make them accessible for further biological study

**Notes:**
Switching gears, the HGP began in 1990 as an international effort that was intended to last for 15 years, but rapid tech advancements accelerated completion to 2003. The Department of Energy’s Human Genome Program and the NIH’s National Human Genome Research Institute, together sponsored the HGP. The “finished” sequence is just the 1st step. Some say this enormous achievement is akin in scientific importance to developing the periodic table of elements, but deriving meaningful knowledge from DNA sequence will define biological research through the coming decades. Draft genomic sequences can be compared broadly to a cross-country road excavated by a bulldozer, which leaves behind many gaps across different terrain, which will require bridges and other refinements. 

## The Unknown

- Gene number, exact locations and functions
- Gene regulation
- DNA sequence organization
- Chromosomal structure and organization

**Notes:**
The list of what is not known is still long and includes the above.

## HGP Resources

- National Human Genome Research Institute: _[http://www.genome.gov](http://www.genome.gov/)_
- Human Genome Resources: NCBI (National Center for Biotechnology Information): http://www.ncbi.nlm.nih.gov/About/human/index.html
- CNN news item: http://www.cnn.com/SPECIALS/2000/genome/story/overview/

**Notes:**
There are many great resources for more information about the HGP. Let’s start with NHGRI. On the upper right hand side there is some great reading about the story behind the HGP. Using the search box, you can locate and read the entire issue of the journal Nature Supplement about the human genome project. The CNN news item is also a nice synopsis and overview of the project. One of the interesting items from that article is that there are fewer genes than originally thought in the human genome...approx. 30,000.  Let’s also take a look at the NCBI resources. These are intended really for sophisticated consumers. It provides access to resources used by NCBI scientists to piece together and analyze the human genome. (show databases available)

## 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
- Inhibit integration of personalized medicine?

**Notes:**
Information about intellectual property and human genome is available. Approx. 1⁄4 of genes in the human genome have patents associated with it, which are extremely valuable to those developing products based on genetic discoveries. Patents are issued to encourage innovative and provide protection to allow those investing in genetic research the opportunity to max. their profit. However, when patents limit the use of basic genetic information, they threaten to limit or inhibit biomedical research. There are concerns that a large number of patents will limit the integration of personalized medicine into healthcare, either because of restrictive patents or prohibitive costs. The debate centers around what criteria should determine whether a discovery is patentable. Are genes part of our collective heritage that should not be patentable at all? If discoveries are patentable, how should a legitimate discovery be defined? Should the applicant be required to demonstrate a use for the discovery?

## DNA Patent Database

- Kennedy Institute of Ethics
- Contains >37,000 DNA-based patents issued from 1971-present
- Contains >35,000 patent applications published 2001-present
- Supported by grants, no cost to public
- http://dnapatents.georgetown.edu

**Notes:**
Database is updated weekly and contains over 35,000 patents and patent applications. A user can track data or trends in categories such as date of issue and the inventor or the receipt of government funding. (Search example: for all patents 2007, basic search, limit to year) ???better example?

The U.S. patent and trademark office has developed guidelines on patenting of  genetic discoveries. Current guidelines state that the identification of the gene’s sequence alone is not patentable, but that a gene isolated from its natural state may be patentable if applicants can demonstrate “specific, substantial and credible utility” for the discovery. 

<<BREAK>>

## Genetics Home Reference

- Launched April 2003
- Summaries for 184 genetic conditions, 289 genes, and all human chromosomes
- Glossary
- Illustrated tutorial
- Links to 103 MedlinePlus Health Topics
- In 2005:
-  4400 visitors daily
- 3.3 million hits/month

**Notes:**
The best place to start is GHR to locate information on specific genetic disorders. GHR was developed to bridge the clinical questions of consumers, who are increasingly using the Internet to find health info, including genetic disorders, with the rich technical info emerging from the human genome project. Prior to GHR, online genetics resources addressed the needs of researchers and genetics professionals, specifically the OMIM, which is a catalog of human genes and genetic disorders containing textual info and references and links to Medline and sequence records in the Entrez system and additional related resources at NCBI, which we saw earlier. Other resources for researchers are Gene Reviews, which are expert-authored, peer-reviewed current disease descriptions that apply genetic testing to the diagnosis, management and genetic counseling of patients and families and EntrezGene, a searchable database of genes themselves. GHR was launched in April 2003. The illustrated tutorial is called the Help Me Understand Genetics Handbook, of which a copy is provided in your notebook. 

## 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

**Notes:**
There are several strategies used for topic selection. Content is monitored to ensure accuracy and currency. Topics are comprehensively reviewed annually with an internal and external review. New topics are added regularly. Let’s take a look.

## GHR Content

- Monitored to ensure accuracy and currency
- Topics comprehensively reviewed annually
- Genetics Home Reference: http://ghr.nlm.nih.gov

**Notes:**
On the home page, the what’s new section is helpful for regular users. The glossary link includes synonyms and is helpful for users unsure of spelling of the topic of interest. The handbook has 9 chapters with a table of contents, illustrations and a PDF option. The glossary contains synonyms and definitions with links to the source of these definitions. Also from the home page, there is a link to genes and gene summaries and these include...

## 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

**Notes:**
The following information...The name and symbol of the genes are determined by the Hugo Gene Nomenclature Committee. 

## 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

**Notes:**
The Chromosomes link from the home page provides information and web resources including the information above. 

## Chromosomes Link(continued)

- Resources including chromosome-specific databases and web sites, information on chromosome abnormalities
- Learning aids, including glossary terms and handbook links

**Notes:**
On GHR, the About section explains what is in the database, how topics are selected, links to reviewers and staff and how to link to GHR from your website. The search box is for topics not found on GHR, such as anthrax or locating information within the site. Search results provide suggestions on locating the topic not found if searched with no results. Look at Genetic Conditions section, click on the letter of the condition. Class example: Tay-Sachs or Maple Syrup Urine Disease. The Q and A format provides a description of the disorder, prevalence/incidence, genetic cause and inheritance pattern. A print version is available from an icon in left margin. Resources are in the left margin and the body of the text, with a wide spectrum of information from lay-friendly to technical and under the question, what if I still have specific questions?, there are links to ask a geneticist, or the Genetics and Rare Disease Information Center. Learning aids on the site include links to glossary terms and areas of the handbook with further information. The dates at the bottom include the publication date and the last date of comprehensive review. 

## 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

**Notes:**
There are a number of great websites that provide information on gathering your family health history. In your handout, there are more listed. The U.S. Surgeon General’s Initiative has a web version and a paper version which can be printed and taken with you to family gatherings. We’ll be using the National Society of Genetic Counselors version for our exercise. 

## Family History Resources

- GHR –
- List of links:
- http://ghr.nlm.nih.gov/spotlight=familyhistory
- U.S. Surgeon General’s Family History Initiative:
- http://www.hhs.gov/familyhistory

**Notes:**
Class exercise – use graph paper or blank paper in your folder. Begin your history using the instructions also provided in your folder. Share stories amongst class participants.  (show both resources and go over how to do a family health history)

## Family History Resources

- National Society of Genetic Counselors:
- http://www.nsgc.org/consumer/familytree
- 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

**Notes:**
Show this link and have class get out their instructions and blank page for creating the family history. 

## 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

**Notes:**
Let’s take a look at 2 more resources. On M+ there is a wealth of information. (show genetic disorders page and family history page)
The site from Indiana University has sections on genetics overview, specific disorders, birth defects, genetics of common diseases and genetics counseling and testing. The links on the left margin are for specific users of the site and further links to organizations and even more resources. 

## Other resources

- NORD – National Organization for Rare Disorders:  http://www.rarediseases.org
- One year subscription ~$450, some info free
- CHID – Combined Health Information Database: discontinued Sept. 2006
- Clinical Trials – http://clinicaltrials.gov

**Notes:**
(show each site) (point out the NORD site has some info for free, full reports available for minimal fee or can be accessed through a library with subscription) (on clinicaltrials.gov, can search using boolean, such as gene* AND baltimore) will pick up gene OR genes OR genetic OR genetics. Will also search using disease headings such as genetic diseases, inborn (tab studies by topic)

## Ethical, Legal and Social Issues

- Fears
- Genetic information used to harm or discriminate
- Deny access to health insurance
- Deny employment
- Deny education
- Deny loans?

**Notes:**
Moving on to our discussion of the ethical, legal and social issues... advocates and detractors have become increasingly vocal with developments in genetic research. They openly acknowledge the profound social divisions and political upheavals likely to result from this research. Discrimination is just one of the potential fears. There are now genetic tests for more than 500 disorders. Fears that health insurers and employers will use an individual’s genetic makeup to deny them jobs or health insurance keep many from benefitting from this emerging technology. Current federal and state laws provide only a patchwork of protections that don’t fully assure patients that their genetic info will be secure. The senate took a crucial step toward helping patients when they unanimously passed the Genetic Information Nondiscrimination Act in 2003 and again in 2005. This bill established comprehensive federal standards to protect the privacy of genetic info and prohibit genetic discrimination in health insurance and the workplace, but how much protection does this offer? What about the potential for hackers to obtain private info about your genetic makeup?

## 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

**Notes:**
As Congress considers federal legislation to ensure information from genetic testing can’t be used to discriminate in hiring and health care coverage decision-making, polls have shown that consumers fears are growing and with good reason. There have already been cases in which employers have tried to do just that. In 2002, Burlington Northern and Santa Fe Railway Co. settled with U.S. Equal Employment Opportunity Commission for $2.2 million for its efforts to use blood tests of 36 of its employees without their knowledge in an attempt to prove that their injuries were due to a rare genetic condition instead of work-related stress. BNSF denied a violation of the law but agreed not to use genetic tests in future medical exams. The U.S. Senate unanimously passed a general information nondiscrimination bill in 2005 and the House is considering similar legislation. Some provisions of HIPAA address the privacy of information and prohibits discrimination but most often, it is applied to existing conditions and not those that may genetically be predisposed to develop. 

## 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

**Notes:**
A study at Johns Hopkins published in the American Journal of Medical Genetics Feb. 2007 found that people with genetic conditions are twice as likely to report having been denied health insurance than individuals with other chronic illnesses. Also found that nearly 60% of all study participants believe health insurance companies can obtain medical information about them without their permission and over 27% of individuals with genetic disorders and serious medical conditions reported having been denied health insurance or were offered it at a prohibitive rate. Its clear that people are quite worried about access to health insurance. 

## To tell or not to tell?

- Protect interests of patients
- Keep medical information confidential
- No absolutes
- Colon cancer case
- Ethical vs. legal obligations

**Notes:**
A possible scenario: in the next few years, researchers will identify and locate most, if not all, genes in the human genome that cause disease or conditions. It is already known that the gene for Cystic Fibrosis is found on chromosome 7, Huntington’s Disease on chromosome 4, Alzheimer’s is possibly due to a defective gene on chromosome 21 and certain incidences of colon cancer on chromosome 2. More knowledge is yet to come and when it does, it will likely be accompanied by an inexpensive method for testing. Screening for all genetic diseases may become routine for newborns, just as testing for PKU (Phenylketonuria) has been since the 60’s. A person’s individual genome would become part of a databank to which all of us and our health care providers would have future access. The advantage is clear: medical care from birth to grave could be carefully planned to delay onset, get appropriate treatment and perhaps even cure genetic-based disease. This scenario is unlikely however because as good as it may sound, the specter of genetic discrimination may slow it down or retard it completely. It’s likely to be impeded or blocked entirely by U.S. system of financing medical care through commercial insurance. Even with a government-regulated program of access to basic health services, the need to purchase supplemental insurance to cover serious diseases makes many with certain genetic configurations vulnerable to discrimination. Insurance works by sharing risk. When risk is uncertain to all, then all can be asked to contribute equally to insurance pool. Premiums can be equalized. Once the genetic disorders of individual become known, this could justify higher premiums for those demonstrating greater risk. Insurance may even be denied those whose genes predict extended or expensive medical treatment. 

## 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

**Notes:**
The list of genetic diseases or conditions that some underwriters deny coverage of will probably increase. Between 30-40 million people in the U.S. currently live with insufficient or no medical coverage and despite its promises for a better life, the HGP could inadvertently add a whole new class of poor and uninsured people. 

## Societal Concerns

- Who owns and controls genetic information?
- Privacy and confidentiality of genetic information

**Notes:**
The challenge of genomic medicine with respect to the physician – patient relationship is illustrated by the case of a man who died of color cancer in the 1960’s. when the same disease developed in his daughter 25 years later, she obtained her father’s pathology slides, discovered that he had had diffuse adenomatous polyposis coli and sued the estate of her father’s surgeon, alleging that the physician should have warned her about her 50% risk of having the disorder. An intermediate appellate court in NJ ruled that dr. had a duty to warn daughter directly, perhaps even over her father’s objections. Do you think this was a good result?

## 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

**Notes:**
Example: escaped transgenic grass. Scotts Co. grass escaped the test plot and was found 2 miles away. The grass is resistant to herbicides. The bioengineered grass poses a threat to wild grass species and the sod industry. Grasses can spread widely and rapidly. A biologist was quoted as saying “its like Darwin on steroids”

## 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 31,500 + bibliographic citations to journal articles, books, audiovisuals, legal docs, news articles and reports
- http://bioethics.georgetown.edu/nirehg

**Notes:**
Some interesting documents include a GPO doc on genetic screening and counseling and the legal, social and ethical implications, as well as a doc on genetic engineering and its implications for society. There are also quick bibliographies and search strategies for topics such as behavioral genetics, eugenics (selective breeding), gene therapy, genetic research, etc. There are also over 100 syllabi that relate to ethics and genetics, including semester-length, seminars, CE courses from high school through graduate level.

- Consumer/Patron Question Scenarios

- EXERCISES

**Notes:**
Optional Vignettes exercise at: www.genome.gov/Pages/Education/Kit

## Wrap-up

- Questions, Comments?
- Evaluation form
- Terri Ottosen:
- tottosen@hshsl.umaryland.edu
- Or 410-706-2855
- Thank You!

**Notes:**
Wrap-up: discuss interesting stories in the news, such as “no sneeze kitties” can now purchase a hypoallergenic cat. 2 year waiting list. Bred so that glands don’t produce protein response for most human cat allergies. These cats cost $4000. 

Other possible talking points: michael Crichton book, “Next” collection of genetic horror stories. His editorial in NYT argues against patenting genes. Point out blogs listed in the resources handout.