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
• 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

• 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 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

Hereditary Breast and Ovarian Cancer Syndromes

Objectives

• Recognize features of high-penetrance hereditary breast/breast and ovarian cancer syndromes
• Describe the established and emerging genetic etiologies of breast and ovarian cancer
• Review the impact of founder mutations associated with BRCA 1 & 2 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 differences between high, moderate, and low penetrance cancer susceptibility genes.
  
• Recognize that cancer susceptibility genes on clinical panels are not always actionable.
• Identify the benefits and limitations in   including moderate and low penetrance cancer susceptibility genes in clinical multi gene testing panels. 

Hereditary Breast/Ovarian 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

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, Part 1 

Objectives

• Identify the distinctions between the etiologies of germline and somatic genetics
  
• Review considerations prior to ordering germline and somatic genomic testing
• Discuss challenges in interpreting somatic testing results
• Recognize confounding somatic phenomena that can be captured in germline testing

Tumor/Germline Analysis in GCRA Practice, Part 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 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 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