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Laura_Amendola_ Lecture Slides

Circle6 with informed consent blood is drawn and

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circle6 With informed consent, blood is drawn and appointments are set to discuss the test results. circle6 Molecular genetic testing reveals that Denise has the HD gene mutation, but Lori does not.
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Adult Counseling: Presymptomatic Testing circle6 Although Denise thought she was ready to hear the results, learning that she will develop HD sends her into a deep depression. circle6 She begins to view the investments she made in her education and career as useless, and she is devastated by the thought that she may have passed the disorder on to her two children, ages 18 months and three years. circle6 With the help of her husband and a therapist recommended by the genetics clinic, Denise pulls out of her depression and begins to make plans for the future.
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Adult Counseling: Presymptomatic Testing circle6 Lori, initially relieved and elated by her normal test results, finds she is now uncomfortable being around Denise and feels guilty at escaping the disease. circle6 The sisters eventually talk through their feelings, and Lori agrees to help care for her niece & nephew when Denise is no longer able. Lori becomes increasingly involved in her job and decides to take evening classes towards a master's degree.
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Lori Denise d. 55y d. HD comp dx. 35y Other scenarios… circle6 What if Lori and Denise are identical twins and only one wants to know their genetic results? circle6 What if it is their grandfather who was affected and their Dad does not want to know his risk to develop HD?
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Adult Counseling: Presymptomatic Testing circle6 The right to have children circle6 Options circle6 Take the risk and continue to have children naturally circle6 Take advantage of prenatal diagnosis, make pregnancy decisions circle6 Society’s role?
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Predictive & Presymptomatic Testing in Childhood circle6 Non-Maleficence – do no harm circle6 Predictive and presyptomatic testing of children at risk for adult onset disorders is strongly discouraged when no immediate medical intervention is available square4 ASHG/ACMG recommendations: http://www.acmg.net/resources/policies/pol-018.asp
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The Big Picture circle6 Genetics affects everyone; it’s a family affair! circle6 Genetics and genetic testing is complicated and is constantly changing circle6 Genetics and ethics go hand in hand
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Questions? Laura Amendola MS, CGC [email protected]
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What would you choose? circle6 Hereditary Breast and Ovarian Cancer circle6 Cancer predisposition, screening/surgery options available circle6 Alzheimer's disease circle6 Neurodegenerative disease, no treatment circle6 Hemochromatosis circle6 Blood condition, non invasive screening circle6 Warfarin sensitivity circle6 Blood thinning medication, need lower dose if prescribed circle6 Carrier of Cystic Fibrosis circle6 No health implications, reproductive planning
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