Laura_Amendola_ Lecture Slides

Circle6 the gynecologist suggests that a mutation in

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circle6 The gynecologist suggests that a mutation in one of two known breast cancer genes ( BRCA1 or BRCA2 ) might be running in Anne's family. She refers Anne to a genetic counselor for further explanation.
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Hereditary Breast and Ovarian Cancer Syndrome (HBOC) 23 d. 40y d. Breast cancer d.ovca d.ovca dx. Breast CA 39y
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Adult Counseling: Predictive Testing circle6 MEDICALLY INDICATED to guide high risk screening and possible treatments circle6 Can influence life planning decisions circle6 Careful patient assessment, counseling, and follow-up are important circle6 Testing should begin in an affected relative to identify the specific gene mutation in the family.
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Adult Counseling: Predictive Testing circle6 After talking with a genetic counselor, Anne decides she wants to have genetic testing circle6 The counselor discusses with her that test results will be most meaningful if an affected family member is tested first circle6 Anne contacts her aunt who has breast cancer. She learns that her aunt has already had genetic testing. Results showed that her aunt has a mutation in BRCA2 .
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Cont … circle6 The genetic counselor coordinates with Anne to have a blood sample drawn and sent to the lab doing BRCA2 testing circle6 The results show that Anne does not have the BRCA2 mutation present in her family circle6 her chance to develop breast or ovarian cancer is no higher than the general population
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Question circle6 What would you do if your patient requests to have her 12-year-old daughter tested for a BRCA1 gene mutation that has been found in your patient?
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circle6 What would you do if your patient requests to have prenatal diagnosis for the BRCA2 mutation that she carries? Question
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Adult Counseling: Presymptomatic Testing circle6 Two sisters, Lori (age 26) and Denise (age 29), have a family history of Huntington Disease), an autosomal dominant genetic condition. circle6 Lori and Denise know that no treatment is available and have talked often about having presymptomatic testing to see if they, too, will be affected. circle6 Lori has always felt that she will develop the disorder, and she sees her every stumble over a street curb as the first symptom. Because of this intuition, she has never been interested in dating or making a conscious career choice.
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Lori 26y Denise 29y d. 55y d. HD comp dx. 35y Adult Counseling: Presymptomatic Testing
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Huntington Disease circle6 Autosomal dominant; CAG repeat expansion >39 in HTT gene circle6 Average age of onset 35-45 years of age circle6 Chorea (involuntary movements) circle6 Psychiatric/personality Changes circle6 Cognitive Problems circle6 Duration 10-25 years
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Adult Counseling: Presymptomatic Testing circle6 After several discussions with two different genetic counselors, Lori and Denise each independently decide to have presymptomatic testing.
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