Laura K Fisher MS CGC Director of Genetic Counseling October 8 2019 Outline Genetic counseling What happens at a genetic counseling appointment Who should see a genetic counselor ID: 910509
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Cancer Genetic Counseling and Testing
Laura K. Fisher, MS, CGCDirector of Genetic Counseling
October
8, 2019
Slide2Outline
Genetic counselingWhat happens at a genetic counseling appointment? Who should see a genetic counselor?Genetics of cancerGenetic testingBenefits and limitationsGenetic testing considerations
Slide3Slide4Slide5Slide6What are Genes?
Genes are like instruction manuals for our bodyThey tell our body how to work and function properlyGene mutations are like spelling mistakes
Slide7What is Genetic Counseling?
The process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.
This process integrates:
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrenceEducation about inheritance, testing, management, prevention, resources, and researchCounseling to promote informed choices and adaptation to the risk condition
nsgc.org
Slide8Components of a Genetic Counseling A
ppointmentContractingInformation gatheringInformation givingPsychosocial analysisFollow up
Slide9Contracting
What is your understanding of why you are referred?What have you been told so far?Have you done any research?What are you hoping to accomplish during the appointment?
Slide10Information Gathering
Medical historyPedigree (family history)Identify “red flags”Analysis
Slide11Information Giving
Cancer genes and associated risksInheritance and risks to family membersBenefits and limitations of testingResources availableBrochures
Websites
Slide12Psychosocial
Readjustment of expectations Potential family and marital strain Impact on child, siblings, and unaffected family members
Discussions with family and friends
Slide13Follow-up
Insurance coverageMost patients pay $100 or lessBCBS of WNY and Independent Health - $0 preventative service when criteria are met!Communication of test results
Phone?In person?Next steps
Additional referrals?Testing for family members?
Slide14Who Should See a Genetic Counselor?
A person may wish to see a genetic counselor when one or more red flags are present in the medical or family history:
Early onset cancer (diagnosed <50 years)
More than one primary cancer or bilateral breast cancer Rare cancers (e.g., ovarian cancer, male breast cancer)Multiple relatives with the same or related cancers
High risk ethnicity (e.g., Ashkenazi Jewish)
Family history of hereditary cancer syndrome
Slide15Examples
Sister diagnosed with endometrial cancer at age 45 yearsMother with left breast cancer at 47 years and right breast cancer at 61 yearsGrandmother with ovarian cancer at 55 yearsCousin, aunt, and grandmother all with a history of breast cancerAshkenazi Jewish ethnicity and diagnosis of breast cancer at any ageFather with a cancer gene mutation
Slide16Family history of cancer? Who is the best person to test?
New yellow apple
Red apple tree growing red apples
Red apple tree growing one yellow apple
Slide17Outline
Genetic counselingWhat happens at a genetic counseling appointment? Who should see a genetic counselor?Genetics of cancerGenetic testingBenefits and limitationsGenetic testing considerations
Slide18All Cancer is Genetic!
Slide19What Percentage of Breast Cancer is Hereditary?
Slide20Slide21Outline
Genetic counselingWhat happens at a genetic counseling appointment? Who should see a genetic counselor?Genetics of cancerGenetic testingBenefits and limitationsGenetic testing considerations
Slide22AIP, ALK, APC, ATM, BAP1, BARD1, BLM, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2
Slide23AIP, ALK, APC, ATM, BAP1, BARD1, BLM,
BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2
Slide24Breast Cancer Genes
17 total genesATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, and TP53Example: PTEN
50% risk of female breast cancer10% risk of thyroid cancer5-10% risk of endometrial cancer
Slide25Colon Cancer Genes
17 total genesAPC
, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, and TP53Example:
MSH252-82% risk of colon cancer25-60% risk of endometrial cancer6-13% risk of stomach cancer4-24% risk of ovarian cancer
Slide26Prostate Cancer Genes
14 total genesATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, and TP53Example: BRCA2Up to 15% risk for prostate cancer by age 65
Up to 6.8% risk of male breast cancer by age 7045-84% risk of female breast cancer11-18% risk of ovarian cancer
Slide2723andMe
Ancestry testingAncestry + health testingIncludes BRCA1/2 Ashkenazi Jewish founder mutations ONLY (3 of the >1,000 mutations in these genes!)
Slide28What do I do if I Have a Gene Mutation?
Cancer screening may start at earlier agesExample: colonoscopy starting at age 40 years, mammogram starting at age 30 yearsAdd extra cancer screeningExample: yearly breast MRI in addition to yearly mammogram, visit a dermatologist yearlyDiscuss with family members to assess who else is at risk
Slide29What do I do if my Results are Normal?
Cancer screening based on personal and/or family historyStart screening 10 years before the earliest diagnosis in the familyExample: If mother was diagnosed with breast cancer at 43 years, daughter should start breast cancer screening at 33 yearsGenetic testing for family members depends on history
Slide30Family history of cancer? Who is the best person to test?
New yellow apple
Red apple tree growing red apples
Red apple tree growing one yellow apple
Slide31Cancer Gene Mutation ≠ Cancer
Cancer gene mutations tell us about risk to develop cancerSome people with cancer gene mutations will never develop cancer!
Slide32Different Types of Genes
High riskAssociated with highly elevated risks of cancerModerate riskAssociated with moderately elevated risks of cancerNewly describedGenes that we are still learning about
Slide33Which Genes Should be Tested?
Depends on individual’s preference!Some people only want to know about genes that will change treatmentOther people are curious and want to learn about as much as possible!
Slide34Many Other Cancers Can Have Inherited Predisposition!
OvarianUterine/endometrialPancreaticKidneyMelanomaSome cancer types typically do not factor into genetic evaluation:
CervicalLung
Slide35Limitations vs. Benefits
Slide36Genetic Testing is Changing Rapidly!
Individuals who had genetic testing more than 3 or 4 years ago may benefit from additional genetic testingEvolution from single gene testing to gene panel testingSome results that are initially reported as “uncertain” will eventually be called “positive” or “negative”Recommendations for each gene will change over time
Slide37Cancer Genetic Resources
Slide38Outline
Genetic counselingWhat happens at a genetic counseling appointment? Who should see a genetic counselor?Genetics of cancerGenetic testingBenefits and limitationsGenetic testing considerations
Slide39Informed Consent
Once you know, you can’t go back!Genetics is a family affairTesting may not be appropriate until 18 years of agePost-test sample use
Slide40Genetic Discrimination
Genetic Information Nondiscrimination Act (GINA)Signed into effect in 2008Prohibits discrimination in employment and health insurance based on genetic information
Does NOT cover life insurance, long term care insurance, or disability insuranceDoes NOT apply to employers with <50 employees
Slide41Logistics of Genetic Testing
Types of samples acceptedBloodSalivaLaboratory selectionPatient insuranceSame lab as family members with positive test resultTurnaround
timeMost cancer testing takes 2-3 weeks
Slide42Finding a Genetic Counselor
Slide43Summary
Genetic counselors can help individuals learn more about genetic testingRed flags in a personal or family history warrant further analysisGenes are unique, and each may have a different impactWeigh benefits and limitations of genetic testing before pursuing
Slide44References
https://www.ncbi.nlm.nih.gov/books/NBK1116/http://www.mdguidelines.com/lipomahttp://time.com/3256718/angelina-jolie-genetic-testing/https://www.brightpink.org/
https://www.slideshare.net/OvarianCancerNationalAlliance/genetics-101-sandra-brown-ms-lcgchttp://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html
http://www.ambrygen.com/
Slide45Questions?
Contact information: Lfisher@windsongwny.com