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GENETIC TESTING AND SCREENING high utility Highly effective acceptable Pre symptomatic intervention low utility A D lzhe ise im as e e r n ia B Ca reas nc t o e r va r an ce r Co lo re ct a lC m at os is hr o H em oc M EN 2 The Spectrum of Utility in Genetic Testing potentially harmful No effective treatment Progression of Understanding in Genetic Testing for Clinical Disorders Methods of Genetic Diagnostic Testing aChromosomal analysis karyotype metaphase analysis G Giemsa banding prometaphase high resolution analysis special stains banding studies breakage studies sister chromatid exchange aMolecular cytogenetics fluorescent in situ hyridization FISH chromosome painting Methods of Genetic Diagnostic Testing con t aLinkage studies restriction fragment linked polymorphisms RFLP polyorphic microsatellite analysis CG repeats variable number tandem repeats VNTR chromosome polymorphisms Methods of Genetic Diagnostic Testing con t aQuantification of trinucleotide repeats Southern blot aSite specific confirmational polymorphisms SSCP deletional screening point mutations aProtein truncation assay Methods of Genetic Diagnostic Testing con t aMultiplex polymerase chain reaction PCR major gene rearrangements deletions a Direct sequencing aBiochemical studies aImmunofluorescent protein studies aCombination strategies Practical Issues aDNA banking aSpecimen requirements aRetrieving past specimens Genetic Screening Definition a Genetic screening A search in a population for healthy persons that possess a genotype which 1 is associated with a predisposition to a disease 2 May lead to a disease in their descendants 3 Produce other variants not known to be associated with disease aScreening does not equal testing The methods are the same the difference is why the tests are done Methods of Genetic Screening aDisease state aAltered cellular or metabolic functions aAltered gene product aChanges in the DNA molecular changes Objectives of Screening aTherapy aPrevention aIdentify at risk

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