Basic Genetics Primer, Part 1

Objectives

• Define the basic principles of gene structure, function, and regulation
• Appreciate the nature and consequences of major types of gene mutations

Basic Genetics Primer, Part 2

Objectives

• Outline the principles of Mendelian inheritance
• Identify the features of incomplete penetrance and variable expressivity
• Recognize how genetic mechanisms such as de novo mutations, mosaicism and imprinting can affect the pattern of cancer in a family

The Basic Science of Cancer Genetics

Objectives

• Distinguish the differences between somatic and germline mutations
• Describe the roles of oncogenes and tumor suppressor genes in signal transduction and cell cycle control
• Review the mechanisms of DNA damage

Lauren Gima, MS, CGC, Senior Genetic Counselor

The Fundamentals of GCRA

Objectives

• Describe fundamentals of the genetic cancer risk assessment (GCRA) process
• Take a comprehensive cancer family history
• Explain the importance of and strategies for confirming key cancers
• Identify sporadic, familial, and hereditary cancer patterns

Documenting the Cancer Family History and the Fundamentals of GCRA

Objectives

• Recognize the importance of eliciting, documenting and verifying the patient family history
• Collect family history information, focusing on details and questions relevant to cancer history documentation
• Draw a 3-4 generation pedigree using standard pedigree nomenclature and symbols 
• Identify questionable or incomplete information that will need further verification to assess cancer risk in the family 
• Demonstrate skills associated with proficiency in collecting and documenting the family history of cancers

Reading the Pathology Report through the Genomics Lens

Objectives

• Apply reading and interpreting pathology reports to define cancer stage and extract information on histology/molecular features
  
• Describe the roles of other diagnostic data (imaging, CT scans, blood markers)

Bita Nehoray, MS, CGC, Senior Genetic Counselor

Laboratory Methods for Inherited Cancer Susceptibilities

Objectives

• Identify the methods, benefits, and limitations of different types of NGS cancer panels
  
• Recognize approaches to variant interpretation and reporting
• Apply different types of genetic tests to clinical vignettes

Characterization and Clinical Interpretation of Germline Genomic Variants

Objectives

• Review types of genetic variants
  
• Outline the categories of variant classification established by the ACMG
• Describe the methods, resources, and tools used to classify variants
• Discuss approaches to re-classifying variants of uncertain significance (VUS)

Mutation Nomenclature: Reading and Interpreting Genetic Test Results

Objectives

• Recognize and describe various types of mutations
• Distinguish between different types of mutation nomenclature
• Interpret a genetic test report

Colin Pritchard, MD, PhD, Assistant Professor

Hereditary Breast and Ovarian Cancer Syndromes, Part 1

Hereditary Breast and Ovarian Cancer Syndromes, Part 2: Other Genes on Panels

Objectives

• Recognize features of hereditary breast/breast and ovarian cancer syndromes
• Profile key scientific history as it informs the present
  
• Describe the established and emerging genetic etiologies of breast and ovarian cancer
• Review the impact of founder mutations and variants of uncertain significance
• Understand the benefits and limitations of genetic analysis for hereditary breast/breast ovarian cancer, with a focus on multigene assays

Hereditary Breast/Ovarian Cancer Risk Assessment

Objectives

• Recognize and apply mutation probability and empiric risk assessment models for breast cancer
• Formulate an evaluation & management plan

Jeffrey Weitzel, MD, Professor of Oncology and Population Sciences

Clinical Management of Hereditary Breast & Ovarian Cancers, Part 1

Objectives

• Describe the methods and efficacy of  breast and ovarian cancer screening tools
• Describe the methods and efficacy of breast and ovarian cancer surgical risk reduction
• Review the NCCN guidelines for high-risk cancer screening and management
• Recognize the timing of GCRA and impact on surgical decisions 
• Discuss targeted treatment options for patients with germline HRD mutations 

Clinical Management of Hereditary Breast & Ovarian Cancers, Part 2

Objectives

• Identify tools and strategies for personalized on-surgical breast cancer risk reduction
• Describe the benefits and risks of chemopreventive risk reduction strategies and appropriateness for age, life phase and risk level
• Review evidence related to lifestyle interventions to reduce breast cancer risk (diet, exercise, etc.) 
• Recognize approaches for  testing new interventions for breast cancer risk reduction.

Hereditary Gastrointestinal Cancer Syndromes, Part 1: Lynch Syndrome

Objectives

• Recognize the features of hereditary gastrointestinal and other cancers associated with Lynch Syndrome
• Discuss the methods and limitations of tumor screening for Lynch syndrome
• Identify the features and mode of inheritance of Constitutional Mismatch Repair Deficiency (CMMRD)
• Recognize the characteristics of Familial Colorectal Cancer Type X

Hereditary Gastrointestinal Cancer Syndromes, Part 2: Polyposis

Objectives

• Identify the features distinguishing different hereditary polyposis syndromes
• Recognize the association between polyp histology and potential germline genetic predisposition to a polyposis syndrome
• Discern the features of different polyposis syndromes, including: Familial adenomatous polyposis; MutYH-associated polyposis; Hamartomatous polyposis syndromes; Serrated polyposis syndrome

Hereditary Gastrointestinal Cancer Syndromes, Part 3: Gastric Pancreatic

Objectives

• Recognize the features of hereditary gastric cancers
• Recognize the features of hereditary pancreatic cancers
• Apply appropriate germline genetic testing strategies for hereditary gastrointestinal syndromes

Significance and Practical Applications for Tumor Phenotyping (IHC/MSI) in Hereditary Cancer Risk Assessment

Objectives

• Determine which cases of CRC have defective mismatch repair
• Screen for Lynch syndrome among newly diagnosed CRC & EC patients
• Discuss OSU clinical experience doing IHC on all newly diagnosed CRC & EC patients
• Review EGAPP recommendations

Clinical Management of Hereditary Gastrointestinal Cancers

Objectives

• Recognize standard of care screening guidelines for individuals with increased risks for gastrointestinal cancers associated with hereditary cancer syndromes, including Lynch, Familial Adenomatous Polyposis, Peutz-Jeghers and Juvenile Polyposis syndromes)
• Identify established and emerging surgical and chemopreventive risk management recommendations and options for hereditary gastrointestinal cancers
• Understand the spectrum and limits of established and emerging screening and risk management for individuals with hereditary risk for diffuse gastric and pancreatic cancers

Pediatric Cancer Syndromes

Objectives

• Recognize clinical features of hereditary cancer syndromes with pediatric manifestations
• Recognize the conditions under which a pediatric cancer patient should be referred to Clinical Genetics
• Identify genetic counseling and testing issues associated with pediatric hereditary cancer syndromes
• Apply appropriate germline genetic testing strategies for herediary pediatric cancer syndromes 
• Provide education on hereditary cancer syndromes with pediatric manifestations to parents, patients and providers in age appropriate manner

Hereditary Hematologic Cancer Syndromes

Objectives

• Recognize the basics of hematologic malignancies
  
• Understand the currently known hereditary hematologic malignancy syndromes
• Distinguish the unique needs for genetic testing in the setting of hematologic malignancies

Hereditary Genodermatoses

Objectives

• Define disease characteristics of hereditary syndromes classified as genodermatoses
• Identify the genes associated with hereditary syndromes that have cutaneous manifestations 
• Recognize cancer risks associated with hereditary genodermatoses syndromes

Hereditary Melanoma

Objectives

• Identify characteristics of hereditary melanoma and when to consider genetic testing
• Recognize the genes associated with hereditary melanoma
• Discuss clinical characteristics associated with CDKN2A gene and management recommendations

Hereditary Endocrine Neoplasias

Objectives

• Recognize clinical features of hereditary endocrine neoplasia syndromes
• Understand risks, benefits, and limitations of genetic testing
• Identify resources to inform risk management for individuals with hereditary endocrine neoplasias

Genitourinary Cancer Syndromes

Objectives

• Recognize inherited urologic disorders associated with kidney cancer 
• Distinguish renal tumor pathologies associated with several inherited kidney cancer syndromes
• Identify appropriate kidney cancer patients for genetic counseling and testing

Hereditary Prostate Cancer

Objectives

• Describe the genetic etiologies of hereditary prostate cancer
• Recognize features warranting genomic evaluation associated with prostate cancer
• Explain the methods and limitations of genetic analysis for hereditary prostate cancer

Tumor/Germline Analysis in GCRA Practice, Part 1 & 2

Objectives

• Compare the benefits and challenges of somatic panel, germline panel and paired somatic/germline sequencing
• Identify issues related to incidental findings in cancer sequencing.
• Discriminate strategies used to interpret genomic data
• Examine ways that genomic data are changing cancer treatment paradigms.
• Discuss some of the patient, provider, and system-level challenges to genomic test integration.

Navigating Complex Genetic Test Results - Clonal Hematapoesis

Objectives

• Review the various possible mechanisms of both germline and somatic mosaicism
• Identify the various mechanisms that can be associated with an altered allelic fraction in a germline genetic test
• Discuss approaches to interpreting, further evaluating and following up on genetic test results reporting low allelic fractions

Ethical, Legal, and Social Issues in Cancer Genetics

Objectives

• Recognize ethical, legal and social issues relevant to cancer genetics counseling and testing
• Apply bioethical principles to counseling challenges
• Identify emerging legislation protecting against genetic discrimination

Pyscho-social and Family Dynamics of Hereditary Cancers 

Objectives

• Recognize key psychological principles and how they generalize across hereditary cancer syndromes
• Discuss  how psychological factors may interact with specific features of hereditary risk
• Review how these processes may effect emotional adjustment, decision-making,quality of life
• Identify family- and individual-level challenges commonly encountered in working with familial risk patients
• Review brief assessments and tools that can be incorporated into cancer risk consultations Identify red flags that indicate consideration of referral for psychological support

Cancer Risk Assessment Counseling Strategies

Objectives

• Observe the application of cancer risk assessment and counseling skills in the setting of mock initial and follow up GCRA consultation sessions
• Recognize the key elements of a comprehensive GCRA counseling process
• Review the essential components of the informed consent process for genetic testing
• Identify how to address ethical, legal and social issues with patients and families
• Recognize key issues related to genetic test results interpretation, disclosure and communication of personalized risk management recommendations