Kyle Salsbery Genetic Counselor salsbery.kyle@marshfieldclinic.org Beyond BRCA1/2 Kyle Salsbery Genetic Counselor salsbery.kyle@marshfieldclinic.org

Outline Who we see in genetics and how to refer Testing options Cancer risk genes: CHEK2, PALB2, TP53 Test results and recommendations Family history examples

Who we see in genetics General genetics clinic Cancer Multiple generations affected Early onset Rare cancers Old age does not disqualify Indication of family history alone

NCCN guidelines for further genetic risk evaluation Ovarian cancer Breast cancer and Known familial mutation Diagnosed ≤ 50 TNBC ≤ 60 Significant family history Male breast cancer Family history alone

Referral process Referral manager Outside referral Family history questionnaire Telehealth Genetics will check with insurance coverage for appointment

Genetic Screening Form

Krames tool and also have specific ones for ovarian, colon, and endometrial

T/F questions of referral to genetics

Cancer Genetic Testing Options Next-generation sequencing technology Panel testing More personalized Wordle image

Cancer Risk Genes BRCA1/2 CHEK2 PALB2 TP53

BRCA1/2 Breast, Ovarian, but more…MBC, melanoma, pancreatic State recommendations

Evidence for Panel testing

Beyond BRCA1/2

Beyond BRCA1/2

Family History Example

CHEK2 Cancer Risks Breast Prostate Colon Screening Family testing

Family History Example

PALB2 Cancer Risks Breast Pancreatic Screening

Family History Example

TP53 Cancer Risks Lifetime risk up to 90% Screening

Multiple Testing Indications

Test Results Positive Negative Variant of uncertain significance Screening recommendations Referrals Negative Cancer risk models Variant of uncertain significance Family studies

Insurance

Always a Surprise

Challenges Context, context, context Newer/moderate risk genes Discrepancies between interpretations

Questions