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The Benefits and Challenges of Genetic Counseling: A Surgical Oncologist Perspective
Hank C. Hill, MDSurgical Oncologist
St. Vincent’s Surgical Associates
Florida Cancer Registrars Association
37th Annual Conference, Tampa, FL
July 27-28, 2015
Disclosures
Speakers Bureau of Myriad Genetics.
ObjectivesUnderstanding the cancer patient and inheritable risks
Recognition of cancer syndromesRole of primary care providerRole of oncologist
Genetic testing and challenges
Interpretation of genetic tests and management options (risk-reduction options)
Cancers Associated with Known Genetic Mutations
Inherited Risk for Disease ACOG Committee Opinion
ACOG Committee Opinion No 442, October 2009Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent (replaces no 298 August 2004)
Inherited Cancer Risk Here are a few known facts about
hereditary cancers.
Hereditary cancers are caused by a change (mutation) in certain genes.
Gene changes may be passed down from either parent to their children.
Increase a person’s risk for developing one or more types of cancer (not everyone who inherits the changed gene will necessarily develop cancer, however).
Inherited Cancer RiskMost cancers are sporadic and occur in patients without a family historySpontaneous mutationNot inherited
Most cancer patients have no clear hereditary component to their cancers.
Approximately 5-10% of all cancers are “inherited” or “hereditary.”
Autosomal Dominance for HBOC Syndrome
Ashkenazi Jewish ancestry High-grade breast cancer Aneuploid with basal/ myoepithelial
phenotype P-cadherin positive EGFR positive ER negative, PR negative, HER2/ neu
negative Medullary carcinoma of breast (better
prognosis) Serous cystadenocarcinoma
Ovary and fallopian tube Younger woman 3x risk for prostate
BRCA mutation and cancer risk
BRCA mutation and cancer risk
Criteria for Genetic Testing
Two or more people, on the same side of the family, have the same type of cancer.
Cancer diagnosed at age 50 or younger.
Cancer in paired organs (e.g. both breasts, both eyes, etc.)
Ethnic risksAshkenazi Jewish ancestry
Benefits of Knowing Cancer RiskUnderstand the risk of cancer for themselves or their
children
Discover if inheritance played a role in the development of their cancer or a family member’s cancer
Review cancer screening tests: Mammography or colonoscopy, etc.
Make decisions about the use of medical or surgical options to manage their higher cancer risks
Inherited RiskAn inherited risk
Does not mean you have received a diagnosis of cancer. Born with alterations to your DNA. Increases your chance of developing certain cancers.
Genetic CounselorReview personal and family
cancer history: type(s) of cancerage(s) of diagnosis.
Risks and benefitsLimitation of testing Emotional implicationsBenefits and limitations of
testing: insurance coverageconfidentiality
Genetic testing ???Personal opinionFears
Create an individual plan for screening and managementModified screeningReview options for risk
reduction Importance for family
members
Do patients really want to know if they have a familial
hereditary cancer?
Huntsman Cancer Institute Survey
Sandra Bugs, MDMedical DirectorHuntsman Cancer InstituteHigh Risk Cancer Research Program
October 2013: 1,202 men and womenAge 25-70
Tumor infiltrating lymphocytesMSI-H
Tumor infiltrating lymphocytesMSI-H
Breast Cancer Risk
Myriad genetics
HNPCC (Lynch) Syndrome
Myriad genetics
Familial Melanoma Cancer
Myriad genetics
Familial Pancreatic Cancer
Schrader K, Offit K, Stadler Zk. Genetic testing for gastrointestinal cancers: A case-based approach. May 15, 2012; Cancer Networkwww.cancernetwork.com
Familial Gastric Cancer
Schrader K, Offit K, Stadler Zk. Genetic testing for gastrointestinal cancers: A case-based approach. May 15, 2012; Cancer Networkwww.cancernetwork.com
How Genetic Testing Changes Management for the Healthy Patient
with a Positive Family History
Psychological relief if do not have mutation
Lifestyle decisions (childbearing) Prenatal testing??? When to test children?
Increased surveillance and screening for cancer
Preventive chemotherapy Biologic therapy.
Holistic therapy for cancer prevention
Consideration of risk reductive surgery
Future: Dietary Lifestyle modifications
Impact of Genetic Screening
Saving lives with education
and appropriate testing
Challenges:Infrastructure support
CostTrust in system
Legal challenges
Challenges of Genetic Testing and
Management of Inheritable Cancer Syndromes
Challenges and ProcessesMake tumor screening standard through pathology labs
Use of IHC with mutational analysis (e.g. BRAF) with > 50% reduction in false positive
Increase sensitivity compared with family history criteria
Creation of molecular testing that is equivalent to genetic testing of the tumor to confirm molecular
Creation of tumor screening protocol that may be equivalent to identifying syndrome
Challenges and ProcessesNavigation to genetic counseling
Screening positive patients at triageScreening at postoperative appointment
Dedicated personnel as advocates Primary care providers, internistsGynecologistsGastroenterologistsOncologists (medical, radiation, surgical)Geneticists and counselor
Challenges and Processes IT support for EMR triage to screen family history provided
Decision support Tracking of family and compliance to screening Reminder system
Clinician education Grand rounds and tumor boards
Administration support for “personalized medicine initiatives”
Legal issues over the industry management “Patent of genes”
Genetic testing is only as good as the counseling that accompanies
it
https://www.myriadpro.com/brca-risk-calculator/calc.htmlBRCA Risk Calculator
Challenges to accept testing from patient’s perspective
Low self esteem
Feeling of guilt
Feels “abnormal”
Feels less than perfect
Lead to non-indicated medical interventions
Potential stigmatization
Discrimination and insurance issues
Employment discrimination
Klimberg VS, Galandiuk S, Singletary ES, et al. Society of Surgical Oncology: Statement on Genetic Testing for Cancer SusceptibilityAnnals of Surgical Oncology, 6(5):507-509, 1999
Surgical OncologistTrust and responsibilityTime“Adoption” of entire familyEstablishing cooperative team
Gastroenterologist, gynecologist, urologistDermatologist, medical oncologistOncology nurse navigator, primary care providerAdministration and corporate support
Leadership
Surgical OncologistCounselingMedical management
Cancer screening: radiographic, biochemical, endoscopic, clinical criteria.
Prevention, screening, surveillance methodsProspective clinical research trials
Medical educationGuidelines for testingCMEResidency educationPatient education Website, brochures, face-to-face events Support groups
Surgical OncologistResearch
Long-term outcome studies National Advisory Council for Human Genome
ResearchAmerican Society of Human GeneticsAmerican Society of Clinical Oncology
National Cooperative Registry
Patient-oriented research
Surgical OncologistPatient Advocacy
Medical, legal, social, psychological, and ethical issues
Detrimental outcomes of genetic testing:Genetic discriminationDifferential treatmentEugenics
Surgical OncologistRegulative Legislation:
Strengthen regulatory authority over laboratories Update laboratories to meet the standard for
laboratory genetic services established by American College of Medical Genetics
Prohibit discrimination based on genetic information by insurance companies and employers
Coverage of servicesConfidentiality – Genetic privacyFunding for supportive service
Questions and Discussion
Hank C. Hill, MD Surgical Oncologist St. Vincent’s Surgical Associates E-mail: [email protected]