Lori Carpenter, MS, LCGC Saint Francis Hospital
• 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
Is that when they tell Will they force me to pregnant women that their do an expensive test? baby has Down syndrome?
Do I have to lay on a Will I have to have my ovaries couch and share my life and breasts removed like story? Angelina Jolie?
• 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
• 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
Every woman in my family has had breast cancer, so I am going to get it too.
• 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.
Sporadic (70-85%): - Cancer occurs by chance or related to environmental factors - General population cancer risk Familial (10-20%): - Multifactorial Hereditary - Increased cancer risk Familial Sporadic Hereditary (5-10%): - Gene change is inherited in the family - Significantly increased cancer risk Adapted from Greenwood Genetic Center Genetic Counseling Aids
Sporadic Cancer Hereditary Cancer • Caused by genetic • Caused by genetic changes changes • Age, smoking, radiation, • Inherited, age, smoking, other unknown factors radiation, other unknown factors • Typically occur at later • More likely to have an ages earlier age of onset • May be the only one in the • May often have a family family with that type of cancer history of same or related cancers
• 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
My family history of breast cancer is on my dad’s side, so it doesn’t affect my risk to develop breast cancer.
• 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
I will lose my insurance if I have genetic counseling or if I have a positive genetic test result.
• 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
https://www.cigna.com/healthcare-professionals/resources-for-health-care- professionals/genetic-testing-and-counseling-program
https://www.cigna.com/healthcare-professionals/resources-for-health-care- professionals/genetic-testing-and-counseling-program
https://www.unitedhealthcareonline.com/b2c/CmaAction.do?channelId=f3478c10d215 2210VgnVCM1000002f10b10a____
https://www.unitedhealthcareonline.com/b2c/CmaAction.do?channelId=f3478c10d215 2210VgnVCM1000002f10b10a____
• 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
X Image from: http://www.bristol.k12.ct.us/page.cfm?p=7097
I had genetic testing that was negative , so my relatives don’t need to worry about developing cancer.
• 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.
I’ve already had cancer, so what’s the point of genetic testing?
• 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.
• 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.
• 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
Dx ovarian cancer at 65 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
Dx ovarian cancer at 65 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
Dx ovarian cancer at 65 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
Dx ovarian cancer at 65 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
Dx ovarian cancer at 65 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 -BRCA1 +BRCA1 42 Dx breast cancer at 42
There are Only Genes for Breast Cancer
• While the BRCA1 and BRCA2 genes are the most well- known 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.
• 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.
• 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
• 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.
• 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
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