Lori Carpenter, MS, LCGC Saint Francis Hospital What is cancer - - PowerPoint PPT Presentation

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 pregnant women that their baby has Down syndrome?

Will they force me to do an expensive test?

Do I have to lay on a couch and share my life story? Will I have to have my ovaries and breasts removed like 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.

Hereditary Familial Sporadic

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

Adapted from Greenwood Genetic Center Genetic Counseling Aids

Sporadic Cancer

• Caused by genetic

changes

• Age, smoking, radiation,
• ther 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

• 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

• f genetic testing?

• A positive result may not change the immediate

management in most cases.

• It can have significant implications for one’s risk of
• ther 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

42 Dx breast cancer at 42

+BRCA1

Dx ovarian cancer at 65

+BRCA1

• BRCA1

42 Dx breast cancer at 42

+BRCA1 +BRCA1

• BRCA1

Dx ovarian cancer at 65

+BRCA1

• BRCA1

42 Dx breast cancer at 42

+BRCA1 +BRCA1 +BRCA1

• BRCA1
• BRCA1

Dx ovarian cancer at 65

+BRCA1

• BRCA1

42 Dx breast cancer at 42

+BRCA1 +BRCA1 +BRCA1

• BRCA1
• BRCA1

Dx ovarian cancer at 65

+BRCA1

• BRCA1

+BRCA1

• BRCA1

42 Dx breast cancer at 42

+BRCA1 +BRCA1 +BRCA1

• BRCA1
• BRCA1

Dx ovarian cancer at 65

+BRCA1

• BRCA1

+BRCA1

• BRCA1

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,

• ncocytic 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

• 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.

Resources

• Cancer Legal Resource Center: www.cancerlegalresources.org
• Surgeon General’s Family Health Portrait:

https://familyhistory.hhs.gov/

• FORCE- Facing Our Risk of Cancer Empowered:

www.facingourrisk.org

• Bright Pink: www.brightpink.org
• Hereditary Colon Cancer Foundation: www.hcctakesguts.org
• National Society of Genetic Counselors: www.nsgc.org

https://familyhistory.hhs.gov/FHH/html/index.html

Lori Carpenter, MS, LCGC Saint Francis Genetics 918-502-2280