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The Genetic Counselor

The Genetic Counselor






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    The Genetic Counselor The Genetic Counselor Document Transcript

    • You have been asked to take on the role of assistant to a genetic counselor. You have been asked to create an informational display which illustrates a particular genetic disorder resulting from a chromosomal abnormality that may be detected through genetic testing. In order to complete this task, you will first need to research the disorder, and then create a brochure to be used in a genetic counseling center. This brochure will be given to prospective parents to help explain about specific disorders caused by chromosomal abnormalities that have been displayed by the mother's karyotype. You may use the Web resources listed below to find the information that you will need. You may also visit any search engine and type in the chromosomal disorder for your brochure research. There are many sites for most of the genetic disorders. You can choose from the following disorders:  Achondroplasia  Fabry's Disease  Achromatopsia  Fragile X Syndrome  Aicardi Syndrome  Friedreich's Ataxia  Alpha-1 Antitrypsin Deficiency  Hemophilia  Angelman Syndrome  Huntington's Disease  Canavan disease  Klinefelter's Syndrome  Cri Du Chat Syndrome  Kostmann's Syndrome  Cystic Fibrosis  Marfan syndrome  Cystinuria  Moebius Syndrome  Diabetes  Nail Patella Syndrome  Downs syndrome  Narcolepsy  Duchenne Muscular Dystrophy  Neurofibromatosis  Prader-Willi Syndrome  Tay-Sachs Disease  Progeria  Thrombocytopenia Absent Radius  Proteus Syndrome (TAR)  Retinoblastoma  Tourette’s Syndrome  Rett Syndrome  Trisomy  Sickle Cell  Turner's Syndrome  Sturge-Weber Syndrome  Waardenburg Syndrome  Tay-Sachs Disease  Wilson's Disease Once you have completed your research, make a pamphlet (brochure) presenting this information, keeping in mind that your audience will be of prospective parents who need to know about your disorder because it may affect their baby and that they probably have never heard of this disorder before.
    • You may create your brochure using construction paper and art supplies, or you may use desktop publishing software such as Microsoft Publisher, Print Shop, or other available software. Include pictures, graphs or charts to help explain your information. The rubric for the project is included below. YOUR BROCHURE MUST INCLUDE: • What are the scientific and common names for this disorder? • Who discovered it and when (How did the disease/syndrome get its name?) • How is this disorder inherited? (What gene or chromosome it is on?) • What are the symptoms of the disorder? (How does this disease affect the body? What are some of the effects?) • What are the current treatments for this disorder? • How common is this disorder? (How many people have it?) • Is there help available for families with this disorder? • How is it diagnosed? • Who should have the test done? (What gender or race does it tend to affect?) • What is the procedure for the test? • What exactly do the test results mean? Does the test indicate probabilities or certainties of having offspring with this disorder? • Why is this disorder considered a genetic disorder? Web Resources o NOVA: Manipulating Genes http://www.pbs.org/wgbh/nova/genome/manipulate.html o Evolution: Babies by Design http://www.pbs.org/wgbh/evolution/humans/babies/index.html o Quest Diagnostics: Prenatal Genetic Testing: Cystic Fibrosis http://www.questdiagnostics.com/patient/womenshealth/cystic_fibrosis.html o Quest Diagnostics: Prenatal Genetic Testing: Sickle Cell http://www.questdiagnostics.com/patient/womenshealth/sickle_cell.html o Quest Diagnostics: Prenatal Genetic Testing: Chromosomal Abnormalities (Downs Syndrome) http://www.questdiagnostics.com/patient/womenshealth/chromosome_analysis.html United Kingdom Department of Health: Prenatal Genetic Testing http://www.doh.gov.uk/genetics/pgt_contents.htm o The DNA Files: Prenatal Genetic Testing: Topic-in-Depth http://www.dnafiles.org/about/pgm3/topic.html o National Human Genome Research Institute
    • http://www.nhgri.nih.gov/ Annotation: This site includes information on learning about genetics, various types of genetic disorders, different tests for genetic disorders, and the role of the genetic counselor. o Cytogenetics and Chromosomal Disorders http://arbl.cvmbs.colostate.edu/hbooks/genetics/medgen/chromo/index.html Annotation: This site contains information about chromosomal disorders. o Genetic Alliance http://geneticalliance.org/ Annotation: This site can help students locate a genetic counselor. o Human Chromosomal Disorders http://www.biology.iupui.edu/biocourses/N100/2K2humancsomaldisorders.html Annotation: Site contains links to different types of chromosomal disorders. o Your Genes, Your Health http://www.yourgenesyourhealth.org/ o Chronic Illness: Directory http://www.pbs.org/fredfriendly/whocares/awareness/directory.html o TeensHealth: Diseases and Conditions (see Genetic Conditions) http://websrv01.kidshealth.org/teen/diseases_conditions/ o KidsHealth: Health Problems (see Birth Defects and Genetic Problems) http://www.kidshealth.org/kid/health_problems/ o Yahoo Genetic Disorders http://dir.yahoo.com/Health/Diseases_and_Conditions/Genetic_Disorders/ o Canavan Foundation http://www.canavanfoundation.org/canavan.php o Chromosomal Disorders http://www.marchofdimes.com/professionals/681_1209.asp Annotation: This site contains information on chromosomal disorders. o http://www.genome.gov/Education/
    • Cytogenetics Brochure Rubric After learning about some genetic problems, including chromosomal abnormalities, you are to choose one genetic disorder or syndrome and research that disorder or syndrome. You are going to create a brochure or pamphlet that could be given to a parent who is seeking genetic counseling dealing with your researched disorder or syndrome. Compose your pamphlet as if it will be distributed by the genetic counselors around the country. Your pamphlet must include the following: (points shown for each requirement of the brochure) Cover with some graphic and name of disorder ______/10 General description of the disorder ______/10 Possible causes of the disorder ______/10 Behavior of the person exhibiting the disorder ______/10 Possible Web sites or groups to help parents with children who ______/10 have the disorder Illustrated karyotype for the person with the researched disorder ______/10 Advertisement that includes a product that could assist someone ______/10 who has the disorder Total ______/70 Brochures will be shared with classmates. You will share with your peers time on the due date of the assignment. The peers in your group will share their brochures also. The sharing portion is not to be graded, but merely to allow students to “show-off” their hard work. Please write your name on this description/rubric sheet and attach it to your brochure when handing in assignment. You may want to visit www.nhgri.gov/10001191#6 to find out more about a genetic counselor. This site will illustrate how complex the role of the genetic counselor is. *Graphic at top taken from Microsoft Office Clip Art Gallery (February 23, 2004).