Laura_Amendola_ Lecture Slides

Circle6 many genetic tests change rapidly requiring

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circle6 Many genetic tests change rapidly, requiring healthcare providers to continuously update their knowledge circle6 www.genetests.org
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Diagnostic Testing circle6 Appropriate in symptomatic individuals of any age circle6 Why? circle6 having a diagnosis may empower families by providing an explanation for physical, mental, or behavioral troubles circle6 genetic test results may apply to other family members as well as the patient
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Screening Test circle6 used to classify the likelihood of having a particular genetic condition circle6 patients with positive screening results are referred for subsequent testing or examination to confirm or rule out the disease in question circle6 this is NOT diagnostic
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Predictive Testing circle6 Testing offered to asymptomatic individuals with a family history of a genetic disorder circle6 Presymptomatic (eventual development of symptoms is certain when the gene mutation is present, e.g., Huntington disease) circle6 Predictive (eventual development of symptoms is likely but not certain when the gene mutation is present, e.g., breast cancer)
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Tools in Medical Genetics: Family History
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Tools in Medical Genetics: Family History Recommendations for Standard Pedigree Nomenclature Bennett et al, 1995.
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Pedigree Line Definitions Bennett et al, 1995.
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Affected Unaffected Dominant Inheritance
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Affected Unaffected Recessive Inheritance Carrier
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X-linked inheritance
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Genetic Counseling Scenarios circle6 Preconception counseling circle6 Prenatal counseling circle6 Adult counseling circle6 Predictive – hereditary cancer circle6 Presymptomatic – Huntington’s disease
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Caucasian Ancestry Sally 32 years old Mike 35 years old Consanguinity is denied Preconception Counseling
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Who Should be Offered Carrier testing? circle6 Individuals who have family members affected with a genetic condition. circle6 Family members of an identified carrier . circle6 Individuals in ethnic or racial groups known to have a higher carrier rate for a particular condition.
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Carrier Testing - Points to Consider circle6 A family history of a genetic condition affects the risk assessment and may affect the interpretation of the result circle6 In some situations, DNA testing may not be the primary way of determining carrier status circle6 Identifying carriers allows reproductive choices circle6 Should everyone be offered large scale carrier screening? Regardless of ethnicity/family background?
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Carrier Testing: Cystic Fibrosis circle6 Disorder of chloride transport that results in production of thick epithelial mucus circle6 Leads to chronic cough and sputum production, recurrent lung infections, obstructive lung disease, pancreatic insufficiency (>85%), azoospermia circle6 Median survival 36.5 years in pancreatic insufficient patients; 56 in pancreatic sufficient circle6 Multiple therapies to prevent and treat pulmonary complications
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Carrier Testing: Cystic Fibrosis circle6 Autosomal recessive circle6 Due to mutations in CFTR gene circle6 Over 1000 mutations have been identified in CFTR that cause CF
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Carrier Testing:
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