Cancer Survivorship Symposium Cancer and Heredity January 16, Jeanne P. Homer, MS Licensed Certified Genetic Counselor
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1 Cancer Survivorship Symposium Cancer and Heredity January 16, 2017 Jeanne P. Homer, MS Licensed Certified Genetic Counselor
2 Outline Cancer and Heredity Hereditary Cancer Risk Assessment & Genetic testing at Hoag A case study of a family with Hereditary Breast and Ovarian Cancer
3 Outline Cancer and Heredity Hereditary Cancer Risk Assessment & Genetic testing at Hoag A case study of a family with Hereditary Breast and Ovarian Cancer
4 Hereditary Cancer Hereditary 10% How frequent is it? Sporadic 90%
5 Review of Genetics 60-second review
6 Genetics
7 Chromosomes and Genes
8 Chromosomes and Genes BRCA2 BRCA1
9
10
11 Hereditary Cancer Genes MYH FH MSH2 MSH6 MLH1 VHL APC PMS2 RET PTEN ATM MEN1 SDHD BRCA2 CDH1 p53 BRCA1 STK11 CHEK2
12 DNA
13 Mutation Nonfunctional or missing protein
14 Dominant Inheritance mutation Aa Aa aa aa Aa aa Aa
15 Hereditary Cancer Hereditary 10% What are the implications? Sporadic 90%
16 Features of Hereditary Cancer General Population Hereditary 2-8% at least 50% Higher chance of cancer
17 I ve already had cancer General Population Hereditary Low up to 50% High chance of a second cancer
18 Your family
19 Two things that may be worse than getting cancer Getting it again Passing it to your children
20 Why would you want to know? Screening Chemoprevention Surgery
21 Hereditary Cancer Hereditary 10% How to tell if it s hereditary? Sporadic 90%
22 Genetic Testing
23 Red Flags
24 Features of Hereditary Cancer Young age at diagnosis
25 Features of Hereditary Cancer Person diagnosed with cancer twice
26 Features of Hereditary Cancer Rare tumor or cancer once in a blue moon
27 Features of Hereditary Cancer colon colon uterine Multiple family members on the same side of the family with the same or related cancers kidney colon colon Bile duct
28 Ashkenazi Jewish Ancestry (breast, ovarian, prostate, pancreatic and colon only)
29 Outline Cancer and Heredity Hereditary Cancer Risk Assessment & Genetic testing at Hoag A case study of a family with Hereditary Breast and Ovarian Cancer
30 Hereditary Cancer Program Team
31 Making an appointment
32 Family History Form
33
34 The Family Tree Grandparents Parents Children
35 Review Medical Records
36 Analyze for all known hereditary cancer conditions
37 Computer analysis
38 Consultation
39 Genetic Counseling what it is Explain genetics & answer questions Analyze family Risk assessment Arrange genetic testing Explain results Written summary
40 Genetic Counseling what it isn t Therapy
41 Genetic Testing
42 New Genes
43 Gene Panels
44 Genetic Testing - Cost 2013 $ $475 $0 $0
45 Follow-up Plan for surveillance Keep in touch
46 Research
47 DNA banking
48 What Genetic Counselors Do Collection and documentation of detailed family history of cancer Review of appropriate medical records Pedigree assessment and recognition of cancer susceptibility syndromes Calculation of hereditary cancer risk Explanation of inheritance pattern and implications for family members Assistance in exploring the medical and psychological implications of genetic testing Review of costs, benefits and limitations of genetic testing Provision of informed consent, including issues of privacy, confidentiality and legal protections against genetic discrimination Determination of best strategy for testing within the family Help in obtaining insurance coverage for the testing Selection of appropriate genetic test and testing laboratory Sample collection (blood or saliva) Interpretation of genetic test results, which can be complex Provision of ongoing emotional support and assistance in informing family members Assistance in developing a plan for cancer screening and risk reduction, when appropriate Detailed summary letters sent to patients and their physicians Referrals to research and national support organizations, when appropriate For those with BRCA-positive results, participation in the Hoag-sponsored Orange County quarterly education meetings
49 GINA Genetic Information Nondiscrimination Act Signed into federal law in 2008 Provides protection from discrimination based on genetic status in health insurance and workplace
50 Outline Cancer and Heredity Hereditary Cancer Risk Assessment & Genetic testing at Hoag A case study of a family with Hereditary Breast and Ovarian Cancer
51
52
53
54 Positive (Deleterious Mutation) Nonfunctional or missing protein
55
56
57 Options for BRCA carriers Screening Chemoprevention Surgery
58 Or not
59
60
61 Hereditary Cancer Genetic Testing Genetic Counseling
62 Most cancers are hereditary. True or False Answer
63 False Hereditary 10% Sporadic 90%
64 Which test is more accurate: blood or saliva? Answer
65 Both tests are accurate
66 Do people with cancer gene mutations always get cancer? Answer
67 No
68 Breast cancer genes only come from the mother s side: True or False Answer
69 False 50% of the time, the gene mutation comes from the father
70 Genetic testing costs thousands of dollars and is never covered by insurance Answer
71 False (but it used to be true)
72 Can I get genetic testing even if I don t meet insurance criteria? Answer
73 Yes, (out-of-pocket cost of $100-$475)
74 Genetic Counseling appointment is scary: True or False Answer
75 False
76 Would my insurance cover genetic counseling? Answer
77 Yes Genetic counseling is covered by most insurance plans (exception is Medicare)
78 Would I lose my insurance if I have the gene? Answer
79 No. LAW (GINA)
80 CONGRATULATIONS!
81 Thank you How Genetics Works Please feel free to contact us for more information
82 Questions?
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