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Kyle Salsbery Genetic Counselor

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Presentation on theme: "Kyle Salsbery Genetic Counselor"— Presentation transcript:

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

2 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

3 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

4 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

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

6 Genetic Screening Form

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

8 T/F questions of referral to genetics

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

10 Cancer Risk Genes BRCA1/2 CHEK2 PALB2 TP53

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

12 Evidence for Panel testing

13 Beyond BRCA1/2

14 Beyond BRCA1/2

15 Family History Example

16 CHEK2 Cancer Risks Breast Prostate Colon Screening Family testing

17 Family History Example

18 PALB2 Cancer Risks Breast Pancreatic Screening

19 Family History Example

20 TP53 Cancer Risks Lifetime risk up to 90% Screening

21 Multiple Testing Indications

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

23 Insurance

24 Always a Surprise

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

26 Questions

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