Kristen Shannon, MS, LCGC

Director, Cancer Center Genetics Program

October 17, 2018

Disclosures

• Gift from Astra Zeneca to create a patient video

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Cancer genetic counselors

• Masters Degree in Genetic Counseling

• Board certified and Licensed

• Medical professionals with expertise in translating complexgenetic information to facilitate informed decision-making

Genetic counseling process

• Detailed personal and family history of cancer

• Risk assessment

• Education re: genetics

• Decision making regarding genetic testing

• Describe logistics of genetic testing

– Informed consent

– Blood specimen

– Insurance all handled by genetic counselor and laboratory – patient fullyaware of any oop expenses prior to the test initiation

– Results typically take 3 weeks (sometimes sooner for surgicalmanagement decisions)

– Results provided by phone (typically)4

Cancer - Basics

Cells

Cancer - Basics

Genes

Cancer Genetics 101

2 normal genes

Most cancer predisposition genes help cells stayhealthy

Cancer Genetics 101

2 normal genes

Most cancer predisposition genes help cells stayhealthy

1 mutated gene1 normal gene

Mutation in a gene stops the gene fromfunctioning

1 mutatedgene1 normal gene

Tumordevelops2 normal

genes2 mutated genes

Sporadic Cancer

© 2006 Myriad Genetic Laboratories, Inc.

Sporadic vs. Hereditary Cancer

In hereditary cancer, one mutated gene is inherited.

1 mutatedgene1 normal gene

Tumordevelops2 mutated genes

1 mutatedgene1 normal gene

Tumordevelops2 normal

genes2 mutated genes

Hereditary cancer: familial implications

OR

Each child has 50% chance of carryingmutation

Features of hereditary cancer

• Cancer diagnosed at younger than expected ages

• Multiple primary cancers (also bilateral/ multifocal)

• Family members with related cancers, especially ifcancers are rare

• Cancer in multiple generations

• Cancer affecting more family members than expected inthe general population

Germline testing v. Tumor testing

In hereditary cancer, one mutated gene is inherited.

1 mutatedgene1 normal gene

Tumordevelops2 mutated genes

1 mutatedgene1 normal gene

Tumordevelops2 normal

genes2 mutated genes

Why tumor genetic testing?

• Treatment decisions– Chemotherapy

– Eligibility for trials

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Why germline genetic testing?

• Treatment decisions– Chemotherapy

– Eligibility for trials

– Surgical

• Cancer Risk Management– Additional cancer risks

– Surveillance / Surgery

• Family information

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Rob

Rob is a 63 year old man that presented with persistent cough. Hesmoked cigarettes socially in college. A chest x-ray revealed a mass inhis lung, which was biopsied and revealed non-small cell lung cancer(NSLC). During his work-up he was found to have stage 4 disease. Hisphysicians discussed chemotherapy treatment.

Rob is married and has two sons (ages 30 and 25) and one daughter(age 28). He reports that his maternal grandmother died of lung cancerat age 87. No other cancers on either side of his family.

Testing ordered: tumor profiling/genetic testing

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Results: EGFR+ NSLC

• EGFR protein normally found on cells

• Too much EGFR – too much cell growth

• EGFR mutations – too much EGFR

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Rob’s personalized plan

• Treatment decisions– EGFR tyrosine kinase inhibitor

• Cancer Risk Management– none

• Family information– none

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Florence

Florence is a 55 yo woman that was recently diagnosed with pancreaticcancer. She had a Whipple procedure and is currently undergoingchemotherapy. She is responding well to treatment.

Florence reports that her paternal aunt was diagnosed with breast cancerand died at age 60. None of her maternal relatives had cancer. Florencehas one son (age 26) and two daughters (ages 30 and 22).

Testing ordered:Tumor profiling and Germline (blood) genetic testing

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Germline testing v. Tumor testing

In hereditary cancer, one mutated gene is inherited.

1 mutatedgene1 normal gene

Tumordevelops2 mutated genes

1 mutatedgene1 normal gene

Tumordevelops2 normal

genes2 mutated genes

Germline results: BRCA2 mutation

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Florence’s personalized plan

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• Treatment Decision• PARPP Inhibitor

• Cancer Risk Management• Breast cancer screening• Ovaries removed

• Family information• 30y daughter tested positive• 25y son tested positive• 22y daughter not tested• Paternal relatives informed of info

Suzanne

Suzanne is a healthy 43 year old woman. She is very interested inlearning more about her cancer risks and other health factors and buys aDTC genetic testing kit.

Suzanne’s mother, grandmother and maternal aunt were diagnosed withbreast cancer in their 40s. Her paternal grandfather was diagnosed withlung cancer in his 80s. Suzanne has one daughter (age 12) and one son(age 9).

Testing : Health and Ancestry Testing

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DTC testing report

• Irish, German and Scottish ancestry

• Health history– No variants associated with Alzheimers

– No variants associated with breast cancer

– No variants associated with Parkinson’s disease

(among other things)

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Suzanne’s personalized plan

• Treatment decision– none

• Cancer Risk Management– Genetic testing not complete!

• She’s not Jewish

• Others should be tested

– Still needs high risk breast cancer screening

• Family information– Genetic testing not complete!

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THANK YOU

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