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Genetic Testing PowerPoint Presentation

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Genetic Testing Presentation Transcript

Slide 1 - GENETIC TESTING : The analysis of chromosomes, DNA, RNA @ proteins To detect abnormalities that may cause a genetic disease EXAMPLES OF GENETIC TESTING: PRENATAL DIAGNOSIS HETEROZYGOTE CARRIER DETECTION PRESYMPTOMATIC DIAGNOSIS OF GENETIC DISEASE
Slide 2 - SCREENING TESTS Aimed at identifying a subset of the population on whom further. DIAGNOSTIC TEST Are not intended to provide definitive diagnoses. Designed to detect treatable human diseases in their presymptomatic stage.
Slide 3 - EXAMPLES OF SCREENING TEST: PAP TESTS - Recognition of cervical dysplasia. POPULATION SCREENING -the presumptive identification of an unrecognized dz @ defect by the applction of test/examinations/othr prcedure -to sort out apparently well persons who probably hv a dz frm those who prbbaly do not. -for hypercholesterolemia.
Slide 4 - PRINCIPLES OF SCREENING
Slide 5 - GENETIC SCREENING
Slide 6 - What is genetic screening? One of the fastest moving fields in medical science. A technique to determine the genotype or phenotype of an organism. It is often used to detect faulty or abnormal genes in an organism.
Slide 7 - TYPES OF GENETIC SCREENING: Newborn Screening -for inherited metabolic diseases 2. Heterozygote Screening -for Tay-Sachs disease
Slide 8 - Newborn Screening Newborns are tested for diseases and early diagnoses allows for immediate treatment (early detection &effective intervention). A blood sample is tested for genetic disorders. An effective public health strategy for treatable disorder such as PKU, galactosemia, hypothyroidism & sickle cell disease. Some communities begun screening for Duschenne muscular dystrophy (by measuring creatine kinase levels in newborns)
Slide 9 - Heterozygote Screening To detect unaffected carriers of disease-causing mutations Target population: group known to be at risk. Usually genetic diseases involves in this heterozygote screening is “autosomal recessive disorder”- Tay-Sachs disease, -Thalassemia & Cystic fibrosis.
Slide 10 - Presymptomatic Diagnosis Indivisuals who are known to be at risk for a disorder can be tested (generally bcz of a (+)ve family history. To determine whether they have inherited a disease-causing mutation before they develop clinical symptoms of the disorder. Ex: Huntington Disease, adult polycystic kidney disease, hemochromatosis & autosomal dominant breast cancer.
Slide 11 - Advantage of Presymptomatic Diagnosis Can aid in making reproductive decisions. Can provide reassurance to those who learn that they do @ do not carry a disease-causing mutation. Early diagnosis may improve health supervision.
 

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