Lori Carpenter, MS, LCGC Saint Francis Hospital
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1 Lori Carpenter, MS, LCGC Saint Francis Hospital
2 What is cancer genetic counseling Myth 1: Breast cancer is inevitable in my family Myth 2: My family history is on my dad s side, so it doesn t count Myth 3: I might lose my insurance if I test positive Myth 4: Negative genetic testing means we re off the hook Myth 5: I ve already had cancer, so what s the point Myth 6: There are only genes for breast cancer Resources
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4 Is that when they tell pregnant Will they women force that me their to baby do has an Down expensive syndrome? test?
5 Will Do I have I have to to have lay my on a ovaries couch and breasts and share removed my life like Angelina story? Jolie?
6 Pre-Test Counseling: Collecting pertinent medical and family history information Providing a genetic risk assessment Discussing options for genetic testing Providing informed consent for the testing including possible results and implications of those results Addressing billing/insurance questions Post-Test Counseling: Disclosing results Discussing implications of those results for the patient and family members Establishing a plan going forward
7 Provide medical information about the condition(s) in question Risks, management, surveillance Describe patterns of inheritance and assess risks to other family members Discuss appropriate genetic testing Provide the family with information about educational and supportive resources Talk with the family about the emotional and psychological consequences of a genetic condition
8 Every woman in my family has had breast cancer, so I am going to get it too.
9 While having a strong family history does increase the risk for that cancer, it is not inevitable. The risk for breast cancer with a BRCA1 change approaches 87%; still 13% of those women won t develop breast cancer. In fact, knowing your family history can allow your doctor to recommend increased screening to help detect possible cancer earlier or even prevent it.
10 Sporadic (70-85%): - Cancer occurs by chance or related to environmental factors - General population cancer risk Familial (10-20%): - Multifactorial - Increased cancer risk Hereditary (5-10%): - Gene change is inherited in the family - Significantly increased cancer risk Hereditary Familial Sporadic Adapted from Greenwood Genetic Center Genetic Counseling Aids
11 Sporadic Cancer Caused by genetic changes Age, smoking, radiation, other unknown factors Typically occur at later ages May be the only one in the family with that type of cancer Hereditary Cancer Caused by genetic changes Inherited, age, smoking, radiation, other unknown factors More likely to have an earlier age of onset May often have a family history of same or related cancers
12 Early Age of Diagnosis: Breast cancer diagnosed at 50 or younger Colon cancer diagnosed at 50 or younger Uterine cancer diagnosed at 50 or younger Family History: Two or more relatives with the same type of cancer Combination of breast and ovarian cancer or colon and uterine cancers Rare Cancers: Ovarian Cancer, Sarcoma, Adrenal Cortical Carcinoma, Diffuse Gastric Cancer
13 My family history of breast cancer is on my dad s side, so it doesn t affect my risk to develop breast cancer.
14 Although the risk for breast cancer is a lot lower for males, they can still develop breast cancer and likewise still inherit the genetic risk factors. When we ask about the family history, we include both the maternal and paternal side of the family. A paternal aunt or grandmother with early-onset breast cancer may be very significant in regards to the family history
15 I will lose my insurance if I have genetic counseling or if I have a positive genetic test result.
16 What is shared with a genetic counselor is likely already in the medical record (e.g. your diagnosis of cancer or family history of cancer) Some insurance companies require genetic counseling prior to testing to ensure that individuals are being tested appropriately and that they understand the testing. 2008, Genetic Information Non-Discrimination Act (GINA) protects from health insurance and employers discriminating based on genetic results
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19 2210VgnVCM f10b10a
20 2210VgnVCM f10b10a
21 A blood or saliva test that looks at specific genes related to known hereditary cancer syndromes Looks for changes known to be associated with an increased risk for specific cancers Testing isn t 100%, can t detect every type of change
22 Image from: X
23 I had genetic testing that was negative, so my relatives don t need to worry about developing cancer.
24 A negative result is often uninformative as it doesn t explain why that person developed cancer. Relatives can still be at an increased risk for cancer and should be screened based on their family history of cancer. Unfortunately not all of the genes that are associated with cancer are known yet. Testing is targeted, doesn t look at all 20,000 genes, usually between 2-30 different genes Testing options may change, so following up with a genetic counselor every 1-2 years may be helpful.
25 I ve already had cancer, so what s the point of genetic testing?
26 A positive result may not change the immediate management in most cases. It can have significant implications for one s risk of other cancers as well as have implications for other family members.
27 Medical- Knowing your status can help insurance companies understand why you would benefit from: Increased screening (e.g. breast MRI or more frequent mammograms) Prophylactic surgeries (e.g. mastectomy, oophorectomy, colectomy) Psychological- It may help provide an explanation as to why a person developed cancer.
28 It s not just about the individual, it s about the family. Knowing you have an inherited change that predisposed you to cancer allows others (children, grandchildren, siblings, nieces and nephews, cousins, aunts, uncles, parents) to be tested for that known change If they test positive for a change, they can take steps to minimize their risk to develop cancer
29 Dx ovarian cancer at 65 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
30 Dx ovarian cancer at 65 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
31 Dx ovarian cancer at 65 -BRCA1 +BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
32 Dx ovarian cancer at 65 -BRCA1 +BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
33 Dx ovarian cancer at 65 -BRCA1 +BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
34 There are Only Genes for Breast Cancer
35 While the BRCA1 and BRCA2 genes are the most wellknown and tested for, there are hundreds of other genes that may increase the risk for cancers with or without other non-cancer related symptoms. If there is a family history of a particular condition, a particular type of cancer, or just a lot of cancer ask a doctor about a referral.
36 Someone who has a family history of a condition or cancers, (especially with hereditary red flags present) The person who had the most suspicious cancer is the best person to start testing with, but anyone can meet with a genetic counselor to help get the process started for the family. **Sometimes meeting with a geneticist may be more helpful if a physical exam is needed.
37 Clustering of breast, ovarian, pancreatic, and/or aggressive prostate cancers on the same side of a family Colon and uterine cancer in two close relatives Ten or more adenomatous colon polyps* Renal cell carcinoma* (clear cell type) diagnosed younger than 50 or with a family history of RCC Medullary thyroid cancer Pancreatic cancer and melanoma in close relatives or one person Ovarian/Fallopian tube/primary peritoneal cancer at any age *Consider referral for other pathology types such as juvenile, hamartomatous, serrated; papillary, chromophobe, oncocytoma, oncocytic hybrid
38 Your doctors should be aware of your family history which will change from year to year, so be sure to update them. If you have any questions or concerns about your risk, ask if there s anything you should be doing differently. Ask to meet with a genetic counselor to discuss your personal and family history.
39 Talk to your family about their medical history Any information can be helpful You don t know until you ask Write it down Obtain pathology or documentation when possible Blame it on the genetic counselor Tell your doctor about your family history Keep it up-to-date as much as possible
40 Age of living relatives, health status and/or conditions If deceased, age they passed and cause of death Age of onset of any cancer diagnoses, type of cancer, and type of treatment (surgery, radiation, chemotherapy, aromatase inhibitors) Environmental/Lifestyle risk factors Tobacco/alcohol use, coal mining, exposures, etc.
41 Resources
42 Cancer Legal Resource Center: Surgeon General s Family Health Portrait: FORCE- Facing Our Risk of Cancer Empowered: Bright Pink: Hereditary Colon Cancer Foundation: National Society of Genetic Counselors:
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46 Lori Carpenter, MS, LCGC Saint Francis Genetics
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GeneticsNow TM. A Guide to Testing Hereditary Conditions in Women & Men. Patient & Physician Information
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Before your visit In a typical hereditary breast ovarian cancer genetic counsling visit be prepared to answer the following set of questions, please check were applicable. About your self (same questions