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Genetic Screening and Counseling

Genetic Screening and Counseling. Introduction.

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Genetic Screening and Counseling

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  1. Genetic Screening and Counseling

  2. Introduction • When you are pregnant, you go through number of prenatal tests such as blood test, urine tests, monthly medical exams, diet questionnaires, and family history tracking. Each of these tests helps to assess the health of your baby and to predict any potential health risks.

  3. Genetic testing is also one of the tests you might choose to have. It identifies the likelihood of having certain genetic diseases or disorders to the children. Some of the genetic disorders are: • Down syndrome • Sickle cell disease • Tay-Sachs disease • If your history suggests that genetic testing would be helpful, you may be better to take genetic counseling.

  4. What Is Genetic Counseling? Genetic tests use a variety of laboratory techniques in order to determine if a person has a genetic condition or disease or is likely to get the disease. Genetic tests are done by analyzing small samples of blood or body tissues to determine if you, your partner, and the baby carry genes for certain inherited disorders.

  5. For example: one of the medical procedure of genetic testing called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. Then, the sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins. The results are then reported to the genetic counselor.

  6. Genes: They are composed of DNA which are the simplest building blocks of heredity. They are gathered in a person’s chromosomes and form unique “blueprint” for every physical and biological characteristic of the person

  7. Humans have 46 chromosomes which are arranged in pairs in every living cell. When the egg and sperm join, half of each chromosomal pair is inherited from each parent. This new combination chromosomes then copies itself again and again during fetal growth and development, passing identical genetic information to produce each new cell in the growing fetus

  8. Human chromosomes carry from 25,000 to 35,000 genes. However, an error of just one gene (and sometimes, even the error of a single piece of DNA) can cause a serious medical condition

  9. Why would you take genetic counseling? • To find possible genetic diseases of unborn babies • To find out if the parents carry a gene for a disease that might pass on to the baby • To screen embryos for disease • To test for genetic diseases in adults before they cause any symptoms • To conform a diagnosis in a person who has disease symptoms

  10. Positive Results • This means that you have the mutation you’ve been tested for. It means that you are more likely to get a particular disease than other people, but not necessarily.

  11. Negative results • This means that you don’t have the particular mutation. This means that the disease doesn’t run in your family. However, it doesn’t mean that you won’t get the disease. It only means that you are less likely to get the disease that others.

  12. Types of Genetic Testing • Carrier Identification: Genetic tests used by couples whose families have a history of genetic disorders but whose considering having children. Used to determine cystic fibrosis, Tay-Sachs disease, and sickle-cell trait.

  13. Prenatal Diagnosis genetic testing of a fetus. Occurs when there is a risk of bearing a child with genes associated with mental retardation or physical deterioration. One of the most common genetic disease screened by prenatal diagnosis is Down Syndrome.

  14. Newborn Screening frequently done as a preventative health measure. This test has 52 states in which diseases such as Phenylketonuria and congenital hypothyroidism can be tested.

  15. Late-onset Disorders Test for adult diseases cush as cancer and heart disease. These diseases have both genetic and environmental causes. Genetic tests indicate a predisposition for the diseases.

  16. Identification of genetic information of a specific individual has received a great deal of press coverage lastly. Profiles (DNA fingerprints) that are complied from DNA testing identify unique characteristics of an individual. This information is now used in legal cases such as criminal investigations. It also can be used in major accidents, disasters or wars to determine who have died.

  17. Issues in Genetic Testing • Privacy – rights of individuals to maintain privacy. However, if an infant is found to be a carrier or likely to develop or be affected by a genetic disease, these findings might affect the future employability or insurability of the infant. • Informed consent - obtaining of permission to do genetic testing. One must have knowledge of the risks, benefits, effectiveness, and alternatives to testing in order to understand the implications of genetic testing.

  18. Confidentiality - acknowledgment that genetic information is sensitive and access should be limited to those authorized to receive it. Future access to a person's genetic information also should be limited.

  19. For further information.. • “What is Genetic Testing?” http://www.lbl.gov/Education/ELSI/Frames/genetic-testing-f.html • “Genetic testing” http://www.answers.com/topic/genetic-counseling?cat=health • “Genetic counseling” http://www.kidshealth.org/parent/pregnancy_newborn/medical_problems/genetic_counseling.html • “Genetic Testing” http://www.nlm.nih.gov/medlineplus/genetictesting.html#cat1

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