1. Abbey Deutschman Brittany Prentice Brittany Prentice Colby Peters Colby Peters

2. In the world of Genetic Testing and Treatment, Genetic Counselors play a key role in the discovery of specific disorders, the linking to support groups, and general help with genetic testing. If a specific disorder is treatable or not, it can be determined by genetic testing. Gene therapy also plays a role in the treatment of disorders or conditions in that both kinds of gene therapy, Germaline Gene Therapy and Somatic Gene Therapy, help treat disorders with an injection to the affected site or into a specific cell to regenerate.

3. Because of predictable frequencies genetic diseases strike families in a way that other conditions do not. Professional genetic counselors help individuals and families identify genetic diseases and overall help the people. They trace back through family history genetic diseases and embrace multi-factorial disorders like cancer. Lots of times a genetic counselor will explain Mendel’s Laws, but substitute the particular family’s situation instead of the pea experiments.

4. A typical genetic counseling session involves family history, pedigree construction, information on specific disorders, testing, links to support groups and a follow-up contact. Reasons to seek genetic counseling are: a family history of abnormal chromosomes, multi-factorial disorder, and/or cancer. The steps taken towards living with genetic diseases are realizing something is wrong, diagnosing the condition, identifying a mutation in others and treating symptoms. Genetic counselors that find genetic problems can conclude that 1 in every 4 children the parents give birth to will have a genetic disease.

5. Newborn Screening is a routine screening that helps to detect disorders early and allows for treatment in some disorders, over 50 disorders can be detected. Using Tandem Mass Spectrometry inborn errors of metabolism can be identified. Testing for inborn errors of metabolism is not costly because there is only one blood sample needed and it is done anyway. Genetic testing has many uses and not just on newborns.

6. Types of Genetic Tests Type of TestInformation Obtained Carrier ScreenIdentifies heterozygotes Prenatal TestsDetects mutant genes for a condition in the family Prenatal ScreenTests embryos for an increased risk of a condition, not based on family history Newborn ScreenTesting for several treatable inborn errors of metabolism Diagnostic TestConfirms diagnosis based on symptoms Predisposition TestDetects alleles associated with an illness Predictive TestDetects mutation in an individual at high risk based on family history

7. Issues are raised with genetic testing here are a few: Privacy issues and confidentiality about test results Economic issues Ethics

8. Gene Therapy 2 ways healing genes are administered : Germline Gene Therapy- Changes the DNA of a gamete or fertilized ovum. All the cells of that person will undergo the correction and is passed to offspring. Is currently not being done on humans. Somatic Gene Therapy- Changes only the cells directly affected by a disease or illness. Is not passed to offspring. There are 3 options: Genes can be removed from body, changed and then infused back into the body, called ex vivo therapy. In Situ therapy is when genes plus DNA are injected into a localized area, such as a single cell of a melanoma. When the vector is introduced straight into the body, that is called In vivo therapy.

9. There are 3 ways to send DNA into cells: Physical- which includes electroporation, microinjection, and particle bombardment. Chemical- which lipids that carry DNA across the plasma membrane, such as liposomes. Biological- uses a vector such a as a viral genome that has had the gene that causes illness removed and replaced with the healing gene.

10. Genes can be injected into the tissue that is being affected or it can be injected into specific cells that can regenerate the needed protein and divide. Site of delivery that are currently being trialed via stem cells and progenitor cells include: Endothelium Skin Muscle Liver Lungs Nervous System Cancer

11. In conclusion, Genetic Counselors can be used to find information on specific disorders, help with genetic testing, and offer links to support groups. Genetic testing can be used to find specific disorders and determine if they are treatable. There are two types of gene therapy in which to treat disorders: Germline Gene Therapy and Somatic Gene Therapy, which can be injected into the affected site or into a specific cell to regenerate.

12. [2, 3] Human Genetics. (2008). Ricki Lewis. Retrieved July 1, 2009. P. 394-396 Gene Therapy. Human Genome Project, Genomics.energy.gov