You can’t change your genes, but knowing and acting on your family health history is essential for you and your medical team in developing your treatment plan. The National Comprehensive Cancer Network (NCCN) recommends genetic testing NCCN recommends genetic testing, including the BRCA1/2 genes, for all metastatic breast cancer patients because it could change treatment decisions. Additionally, individuals with early-stage breast cancer may meet testing criteria based on their type of breast cancer or family history. Our guest speaker Christina (Chrissy) Spears, the Assistant Professor at Ohio State University and helps run the High-Risk Breast Cancer Clinic as a genetic counselor, will discuss not only the common BRCA1/2 tests but the multiple other high-risk gene mutations called expanded panel testing or multi-gene testing to consider. It may also help your family members better understand their risk of breast cancer and other cancers, such as ovarian cancer, prostate cancer or pancreatic cancer.

1. When to Consider
Multi-Gene Testing
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March 30, 2023
Chrissy Spears, MS, CGC

2. ABOUT ME
• From Cincinnati, OH
• BS in Chemistry from Northern Kentucky
University (NKU)
• Masters in Genetic Counseling from The
Ohio State University (OSU)
• Assistant Professor and Genetic Counselor
at OSU
• High-Risk Breast Clinic
• Graduate Students
• Research
• Fur Baby, Sadie
• Soccer
• Foodie
• Reading
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3. Poll:
1. Who has met with a
genetic counselor or had
genetic testing before?
2. Who knows a family
member or friend that has
met with a genetic
counselor or had genetic
testing before?

4. Goals
• Provide an overview of genetic
counseling and testing
• Discuss impact of family history
and how to collect this
information
• Review who should consider
multi-gene testing
4

5. Typical Genetic Counseling Session
Evaluate personal and
family history of cancer
(Drawing a Pedigree)
1
Provide a risk
assessment based on
the personal and family
history gathered
(National Cancer
Comprehensive Network
Guidelines)
2
Discuss potential impact
on personal screening,
management and/or
surgical decision making
as well as potential
impact to family
members
3
Discuss testing options
including panel size &
the different types of
results
4
Coordination of the
testing including
logistics such as cost,
insurance, return of
results, timeline, etc.
5
Post-Test: Reviewing
meaning of results,
referrals to necessary
providers, cascade
testing for family
members, research
opportunities, support
groups
6
5

6. Evaluation /
Pedigree
• First-, Second-, & Third-degree relatives
• Biological relatives, Siblings, Half-siblings, children, aunts, uncles,
grandparents, first-cousins on both sides of the family
• Type of cancer
• Histology
• Treatment
• Bilateral or unilateral
• New primary, recurrence or metastatic
• Age of diagnosis
• Age of death
• What they passed away from
• Anyone in the family had genetic testing
• Copy of the report!
• If so, what were the results?
• Panel size
• If positive, what gene?
• Ethnicity / Nationality
• Consanguinity
• Risk Factors and Environmental exposures
• Risk-reducing surgeries
• Other diseases, non-malignant tumors, conditions
6

7. Poll:
1. Who knows all of this
information regarding their
family members?
2. Who feels comfortable
discussing these topics with
their family members and
asking these questions?

8. Gathering Family History Tips
• Knowing what questions to ask (cancer type, genetic test and results, age of
diagnosis, age and cause of death)
• Explain to family members why you are requesting this information and its
importance for your health
• Being open about your own health
• Assessing certainty about the provided information
• Asking about male and female relatives!
• Use holidays / family reunions as a time to have face-to-face conversations to ask
these questions!
• Start a “family newspaper” via email or text
• Look through family photobooks
• Reconnect with family members through social media
• Look up death certificates or obituaries
• Use ‘My Family Health Portrait’ from the Surgeon General to keep track of information
gathered
• https://cbiit.github.io/FHH/html/index.html
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9. Risk Assessment (NCCN Guidelines)
Personal History of Breast Cancer:
• Diagnosed at age 50 or younger
• Surgical decision and/or treatment
decisions
• Triple Negative
• More than one diagnosis of breast
cancer (different than recurrence)
• Ashkenazi Jewish ancestry
• Male breast cancer
• Lobular breast cancer with presence
of diffuse gastric cancer
Personal (any age) & Family History:
• One or more close relative with:
• Breast cancer diagnosed at
age 50 or younger
• Male breast cancer
• Pancreatic cancer
• Metastatic Prostate cancer
• 3 total diagnosis of breast cancer
between yourself and close relative
• 2 or more close relatives with
prostate or breast cancer
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10. Risk Assessment
10

11. Poll:
1. Who is familiar or has
heard of the BRCA1/2
genes?
2. Who knows someone
that has tested positive for
a pathogenic variant in
BRCA1/2 or another
hereditary cancer gene?

12. Impact:
BRCA2
Hereditary
Breast and
Ovarian
Cancer
Syndrome
(HBOC)
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Breast Cancer:
• Females: 50-85% lifetime
• Males: 2-7% lifetime
Ovarian Cancer: 10-30% lifetime
Prostate Cancer: 20-60% lifetime
Pancreatic Cancer: 5-10% lifetime
Melanoma: Increased

13. Impact: Screening Recommendations
BRCA1/2
• MRI starting at age 25
• Mammogram starting at age 30 for females (consider for
men at age 50)
• Risk-reducing mastectomy
• Chemoprevention
Breast Cancer:
• Bilateral oophorectomy between ages 35-45
Ovarian Cancer
• PSA testing at age 40
Prostate Cancer
• If family history present, MRI and/or ultrasound guided
endoscopy starting at age 50
Pancreatic Cancer
13
General Population/Average Risk
• Mammogram starting at age 40
Breast Cancer:
• No general population screening
recommendations
Ovarian Cancer
• PSA testing at age 50
Prostate Cancer
• No general population screening
recommendations
Pancreatic Cancer

14. Breast Cancer-Related Genes:
ATM BRCA1/BRCA2 CDH1 PALB2
CHEK2 PTEN STK11 RAD51C/RAD51D
TP53 BARD1 NF1
Lynch Genes
(MLH1, MSH2,
PMS2, MSH6)
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MORE!?

15. Impact: Family Members and Inheritance
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TRUE NEGATIVE

16. Two-Hit Hypothesis
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17. Types of Results:
Positive
• Identified a pathogenic variant
that could explain the family
history of cancer and increase
the risk for other cancers
• Could impact surgery decision,
treatment & screening
recommendations &
reproduction options
• Research opportunities
• Usually, dominant, meaning
50% chance for first-degree
relatives to inherit the same
change
• DOES NOT guarantee
someone will develop cancer
in their lifetime
• Cannot predict, if, when, or
where cancer could occur
Negative
• Did not identify a pathogenic
variant that could explain the
family history of could
• May not be hereditary
• May be a gene we haven’t
discovered
• May be a pathogenic variant in
a known gene our technology
cannot test for at this time
• May be a combination of
multiple genes and environment
• Outdated testing (before 2013)
• Panel vs. Single Gene
• Technology improved
• Family members may still be
at increased risk and may
change screening
recommendations
Variant of Uncertain
Significance
• Found a change in a gene
we don’t have all the
information on
• Could be associated with
increased cancer risks
• Could be benign change
that makes you unique
• VERY COMMON! (1/3)
• Treat like a negative
result: does not change
medical management and
do not test family
members usually
• Reclassified in the future
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18. Who
Should
Undergo
Testing or
Updated
Testing?
• Meet NCCN criteria (even if you didn’t before!)
• Constantly changing and becoming more broad
• Previously only had BRCA1/2 testing (2013)
• Larger panel options, technology has improved
• You discover more about the family history
• There is a pathogenic variant in the family you
were not previously tested for
• New diagnosis of cancer personally or in the
family
• Direct-to-consumer testing (23&Me)
• You are estranged, adopted, or have limited
family history, that’s okay too!
• Anyone that is interested in learning more about
their personal risk
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19. How to find a genetic counselor
FindAGeneticCounselor.NSGC.org
GenomeMedical.com
Talk to your doctor
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20. Thank You!
Questions?
20
Chrissy Spears, MS, CGC
Christina.spears@osumc.edu