What’s your risk? The ins and outs of cancer genetic testing.

Maggie Ward

Coordinator – CORA

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What is genetic testing?

Identification

Presence of a genetic mutation

Does not mean cancer is present

Increased risk for cancer

Lack of genetic mutation

Mutation no longer present

Does not mean you will never get cancer

Not yet identified

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What is genetic testing?

Ever-changing

Single-site v. Panel testing

BRCA 1/2

Lynch Syndrome

How is it done?

Blood

Saliva

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Not for everyone

1. Specific qualifying criteria

a. Personal and family history

b. Insurance coverage

2. Understanding of what to expect

a. Genetic counseling

b. Willingness for future testing

c. Preparation for the unexpected

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Indications

1. Ovarian Cancer

2. Breast cancer in two individuals on same side

of family

3. Breast, colon or endometrial cancer diagnosis

under the age of 50.

4. Male breast cancer or triple-negative breast

cancer diagnosis

5. Combination of three cancers in the same

side of family

Considerations

Decision is not cut and dry

May or may not tell us:

Personal cancer risk

Family or future off-spring cancer risk

Inability to screen or prevent

No family history is the same

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Case Study #1

34-year old female, no personal history of cancer

Brother – sarcoma

Mother – ovarian

Aunt – breast

Cousin – pancreatic

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Case study #2

Male, 54-years old, no personal history of cancer

Father – colon cancer at 48, deceased at 51

Brother – colon cancer at 50, deceased at 60

Mother – breast cancer at 70, alive & well at 82

Grandmother – breast cancer at 83, deceased at 90

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Case study #3

31-year old female, diagnosed with breast cancer

No known family history of cancer

Denovo?

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Potential results

Positive:

Genetic mutation

present

Increased risk for

other cancers

Future generations

Consideration for

additional screening

and/or prevention

services

Negative:

If known mutation in

the family, was not

passed on

May not yet be

identified

Familial v. Hereditary

Screening &

prevention based on

family history

Potential results

VUS - Variant of Uncertain Significance

Often benign

May be reclassified

Screening/prevention based on family history

Family testing

Family members affected by cancer

Offspring

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What to expect

Detailed pedigree

Consultation

Specimen collection

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Next steps

1. Know your family history

a. Three generations

b. Type of cancer & age diagnosed, when possible

2. Consider your risk

3. Talk to your physician

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QUESTIONS?

Via Christi CORA

Cancer Outreach & Risk

Assessment Program

316.689.5700

OncologyNavigators@viachristi.org