The Benefits and Challenges of Genetic Counseling: A Surgical Oncologist Perspective Hank C. Hill, MD Surgical Oncologist St. Vincent’s Surgical Associates.

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: hank.hill@jaxhealth.com