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An Introduction to Cancer Genetics for Healthcare Interpreters Cynthia Roat, MPH; Galen Joseph, PhD Claudia Guerra MSW; Janice Cheng, PhD Robin Lee, LCGC;

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Presentation on theme: "An Introduction to Cancer Genetics for Healthcare Interpreters Cynthia Roat, MPH; Galen Joseph, PhD Claudia Guerra MSW; Janice Cheng, PhD Robin Lee, LCGC;"— Presentation transcript:

1 An Introduction to Cancer Genetics for Healthcare Interpreters Cynthia Roat, MPH; Galen Joseph, PhD Claudia Guerra MSW; Janice Cheng, PhD Robin Lee, LCGC; Karlena Lara-Otero, PhD;

2 What will you learn? At the end of this presentation, you’ll have a clear understanding of: Basic concepts in genetics The value of genetic testing The work of a genetic counselor What to expect in a cancer genetic counseling session March 2016Interpreting in Cancer Genetics2

3 What is “genetics”? Genetics is the study of heredity, the process of parents biologically passing particular traits to their children. March 2016Interpreting in Cancer Genetics3

4 Where is genetics discussed? March 2016Interpreting in Cancer Genetics4

5 Genetics and Environment March 2016Interpreting in Cancer Genetics5 Environmental Cause Genetic Cause Why do I have this medical problem? Multifactorial Cause (genes plus environment)

6 March 2016Interpreting in Cancer Genetics6 https://public.ornl.gov/site/gallery/detail.cfm?id=396

7 How is genetic information passed on? March 2016Interpreting in Cancer Genetics7 Humans have 23 pairs of chromosomes in every cell. The egg and sperm are special; they have only one of each chromosome. When an egg and sperm come together, they grow into a child who has two of each chromosome: one from Mom, and one from Dad. http://www.daviddarling.info/childrens_encyclopedia/Genetic_Engineering_Chapter1.html

8 Summary & Questions What is genetics? Heredity Where might you encounter genetics in the course of your work? What are genes? DNA? Chromosomes? March 2016Interpreting in Cancer Genetics8

9 March 2016Interpreting in Cancer Genetics9 http://www.koshland-science-museum.org/exhibitdna/inh03.jsp

10 Do all mutations cause illness? NO! March 2016Interpreting in Cancer Genetics10 Some changes are BENIGN ( they cause no harm).

11 Do mutations cause cancer? March 2016Interpreting in Cancer Genetics11 IT DEPENDS.

12 So hereditary cancer... Happens more often than would be expected by chance – For example, in many generations Happens at a younger age (under age 50) Is more likely to be bilateral in paired organs – For example, in both breasts March 2016Interpreting in Cancer Genetics12

13 Other key concepts Metastasis – the original cancer spreads to other organs Recurrence – the original cancer returns after treatment and a period of time when the cancer cannot be detected Second primary cancer – a completely different cancer starts after the first is treated March 2016Interpreting in Cancer Genetics13

14 Summary & Questions? March 2016Interpreting in Cancer Genetics14 What is a mutation? What does it mean that a mutation is “benign” or “clinically significant”? What does “deleterious” mean? What is the difference between sporadic and hereditary cancer? What are some signs (sometimes called “red flags”) of hereditary cancer?

15 What is genetic counseling? March 2016Interpreting in Cancer Genetics15 “Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.” -The National Society of Genetic Counselors -www.nsgc.org

16 What do genetic counselors do? March 2016Interpreting in Cancer Genetics16 Educate Gather Family History Information Counsel & Support

17 What to expect at a cancer genetics appointment 1 st appointment: – Gathering information on family history of illness – Education on genetics, cancer, risk and risk reduction – Genetic testing if appropriate and desired 2 nd appointment: – Test results & counseling March 2016Interpreting in Cancer Genetics17

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19 Challenges Constructing a Family Tree “I don’t know what he died of.” “I know it was cancer, but I don’t know what kind.” “I don’t know how old she was when she was diagnosed.” March 2016Interpreting in Cancer Genetics19

20 What is Genetic Testing? March 2016Interpreting in Cancer Genetics20 From a blood or saliva sample, the laboratory looks at a patient’s actual genetic structure. IDENTIFIES CANCER RISK – NOT CANCER

21 Genetic Testing March 2016Interpreting in Cancer Genetics21 Looks at multiple genes in one test (a select “panel” of genes, also known as multi-gene testing) May get information about risk of several different cancers Each gene has a name made up of letters and numbers, like BRCA1, PALB2, CDH1 No single test yet for all cancer risk

22 Why do Genetic Testing? March 2016Interpreting in Cancer Genetics22 Know cancer risk Identify whether other family member might be at high risk for developing cancer. Early detection Earlier and more frequent screening More aggressive follow-up of suggestive screening results Better treatment Treatment could begin earlier, which might lead, for example, to a lumpectomy instead of mastectomy. Prevention Prophylactic mastectomy and oophorectomy Hormonal treatments (Tamoxifen, birth control pills) Colonoscopy

23 Why are some people hesitant? March 2016Interpreting in Cancer Genetics23 “It will just make me worry. “It would shame my parents to think that it is their fault that I got cancer.” “What difference would it make?” “If my family finds out I have a genetic mutation, they’ll treat me differently.”

24 Summary & Questions What genetic counselors do? What is genetic testing? What is panel testing? Why would someone want to do genetic testing? And why might someone NOT want to do genetic testing? March 2016Interpreting in Cancer Genetics24

25 Why does genetic testing require informed consent? GT is not research, but consent is required just as it would be for other procedures. GT may cause anxiety, the results may impact family dynamics, positive results may cause sense of guilt. March 2016Interpreting in Cancer Genetics25

26 “Can you just read this form to the patient?” NO! March 2016Interpreting in Cancer Genetics26 CALL Model for Deciding When to Sight Translate Don’t sight translate a document that is: Complex Advanced Legal, or Long How to say no politely. 1.Recognize the validity of the requestor’s goal. 2.Offer options. 3.Give reasons. Bancroft, et al. The Community Interpreter International, 2015

27 Genetic Test Results Positive – a deleterious mutation is found; the mutation causes an increased risk of certain cancers Negative – no mutation is found in any of the genes tested Variant of Uncertain Significance (VUS) – a mutation was found, but scientists don’t know yet whether it causes harm or is benign. March 2016Interpreting in Cancer Genetics27

28 Test Results: Common Syndromes Syndrome Hereditary Breast and Ovarian Cancer (HBOC) Lynch Syndrome Associated Cancers Breast and ovarian Colon, rectal, uterine, ovarian March 2016Interpreting in Cancer Genetics28

29 Issues in genetic counseling Anxiety and depression Worry about children Family dynamics Hard decisions March 2016Interpreting in Cancer Genetics29 Genetic discrimination

30 Summary & Questions Basic concepts in genetics How mutations lead to health issues Sporadic cancer vs. hereditary cancer Genetic counseling Family history and pedigrees Genetic testing March 2016Interpreting in Cancer Genetics30

31 For more information, go to March 2016Interpreting in Cancer Genetics31  NIH Talking Glossary of Genetic Terms https://www.genome.gov/Glossary/ https://www.genome.gov/Glossary/  NIH Glosario Hablado de Términos Genéticos http://www.genome.gov/GlossaryS/ http://www.genome.gov/GlossaryS/  FORCE (Facing Our Risk of Cancer Empowered) http://www.facingourrisk.org/understanding-brca-and-hboc/index.php http://www.facingourrisk.org/understanding-brca-and-hboc/index.php  Does it Run in the Family? A Guide to Genetics and Health http://www.geneticalliance.org/sites/default/files/publicationsarchive/Bo ok2.GA_lowlitFHHT.pdf (English, Spanish, Tagalog) http://www.geneticalliance.org/sites/default/files/publicationsarchive/Bo ok2.GA_lowlitFHHT.pdf  Learning Genetics, from Columbia University Medical Center http://www.learninggenetics.org/index.html http://www.learninggenetics.org/index.html  National Society of Genetic Counselors http://www.nsgc.org/ http://www.nsgc.org/


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