Basic Genetics Primer, Part 1

Objectives

• Describe 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 gene mutations
• Describe the roles of oncogenes and tumor suppressor genes in signal transduction and cell cycle control
• Review the mechanisms of DNA damage

The Fundamentals of GCRA

Objectives

• Describe fundamentals of the genetic cancer risk assessment (GCRA) process
• Recognize the purpose of taking a comprehensive family history and confirming key cancers
• Identify sporadic, familial, and hereditary cancer patterns
• Examine GCRA delivery models and identify challenges in delivering care

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

• Demonstrate ability to read and interpret pathology reports
• Extract information on primary site, histologic and molecular features from pathology reports and clinical documentation 
• Apply information from pathologic confirmation of tumor characteristics to the genetic cancer risk assessment process

Variant Nomenclature: Reading and Interpreting Genetic Test Results

Objectives

• Recognize various types of genetic variants
• Distinguish between different types of variant nomenclature 
• Interpret a genetic test report

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)

Laboratory Methods for Inherited Cancer Susceptibilities

Objectives

• Identify the core methods, benefits, and limitations of different types of NGS cancer panels
  
• Understand the role of emerging newer methods, including RNA testing, exome/genome, and long-read sequencing
• Apply understanding of different types of genetic tests to clinical vignettes

Hereditary Breast and Ovarian Cancer Syndromes

Objectives

• Recognize features of high-penetrance hereditary breast/breast and ovarian cancer syndromes
• Describe the genetic etiologies of hereditary breast and ovarian cancer
  
• Review the impact of the founder mutations associated with BRCA1 and BRCA2 hereditary breast and ovarian cancer
  
• Examine the benefits and limitations of genetic analysis and risk management for hereditary breast/breast ovarian cancer

Hereditary Breast/Ovarian Cancer Syndromes: Moderate Risk Genes

Objectives

• Describe the concept of ‘penetrance’ and how it relates to high & moderate risk cancer susceptibility genes
  
• Counsel a patient about moderate and low penetrance cancer susceptibility genes found on routine clinical testing
• Understand that moderate and low penetrance cancer susceptibility genes may not track with the family history of cancer. Recognize that findings on germline panels are not always actionable

Breast Cancer Risk Assessment

Objectives

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

Clinical Management of Hereditary Breast Cancers

Objectives

• Review the tools for high-risk breast and ovarian cancer screening
• Identify the role and efficacy of breast and ovarian cancer surgical risk reduction
• Recognize the role of chemoprevention options for breast and ovarian cancer risk reduction
• Use evidence-based guidelines to inform risk management recommendations for patients with pathogenic variants in high or moderate penetrance breast and ovarian cancer susceptibility genes
• Apply individualized screening and risk management options and recommendations to case examples 

HBOC Clinical Management and Precision Medicine: Evidence-based Updates, 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 

HBOC Clinical Management and Precision Medicine: Evidence-based Updates, Part 2 Chemoprevention

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, 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

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

Objectives

• Review the mismatch repair (MMR) mechanism and the association of MMR deficiency in Lynch syndrome
  
• Recognize the importance of universal MSI/IHC tumor screening on newly diagnosed colorectal and endometrial cancers
• Review EGAPP recommendations Utilize MSI/IHC screening results for risk assessment in clinical cases
• Utilize MSI/IHC screening results for risk assessment in clinical cases

Hereditary Gastrointestinal Cancer Syndromes, 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, 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

Pediatric Cancer Syndromes: Management

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
• Provide education on hereditary cancer syndromes with pediatric manifestations to parents, patients and providers in age appropriate manner

Pediatric Cancer Syndromes: Counseling Issues

Objectives

• Identify genetic counseling and testing issues associated with pediatric hereditary cancer syndromes
• Recognize limitations and benefits of different testing strategies
• Describe psychosocial impacts of genetic testing for children

Hereditary Hematologic Cancer Syndromes

Objectives

• Identify key terminology and basics of hematologic disorder and malignancy subtypes
• Recognize how hematologic disorders can affect tissue selection and genetic test interpretation
• Review the current rationale, care impact, and guidelines for germline genetic evaluation for patients with hematologic disorders and cancers
• Identify patterns suggestive of hereditary hematologic malignancy disorders and expected yields of germline testing

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

Pharmacogenomics in Cancer Care: What You Need to Know

Objectives

• Describe the Principles of Pharmacogenomics (PGx)
• Identify Clinical Applications in oncology care and clinical utility of PGx 
• Apply principles of oncology pharmacogenomics to a patient case

Hereditary Endocrine Neoplasias

Objectives

• Recognize clinical features of hereditary endocrine neoplasia syndromes
• Appreciate 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 

Objectives

• Review considerations across germline, somatic, and paired testing
  
• Recognize confounding or incidental phenomena that can be captured on testing
• Discuss how genomic data is changing treatment paradigms and implications for actionability/management
• Discuss ongoing patient, provider, and system-level challenges to genomic test integration

Navigating Complex Genetic Test Results - Clonal Hematopoiesis

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 federal and state legislation protecting against genetic discrimination

Psychosocial 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