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Self-Directed Review in Genetic Cancer Risk Assessment

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Fundamentals of Genetics
SDR2 Bundle 01

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Objectives

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Instruction
3 Learning Modules

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Time
2.50 Hours

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Tasks
3 Quizzes


Basic Genetics Primer, Part 1

  • 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

  • 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

  • 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

Essential Components of the GCRA Process, Genetic/Genomic Testing
SDR2 Bundle 02

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Objectives

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Instruction
6 Learning Modules &
1 Micro Learning

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Time
6.00 Hours

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Tasks
6 Quizzes


The Fundamentals of GCRA

  • 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

  • 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
  • Demonstrate skills associated with proficiency in collecting and documenting the family history of cancers

Reading the Pathology Report through the Genomics Lens

  • 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 marker

Laboratory Methods for Inherited Cancer Susceptibilities

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

Characterization and Clinical Interpretation of Germline Genomic Variants

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

Variant Nomenclature: Reading and Interpreting Genetic Test Results

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

Hereditary Breast and Ovarian Cancer Syndromes
SDR2 Bundle 03

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Objectives

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Instruction
4 Learning Modules &
2 Micro Learnings

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Time
8.00 Hours

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Tasks
4 Quizzes &
1 Case Assignment


Hereditary Breast and Ovarian Cancer Syndromes

  • Recognize features of high-penetrance hereditary breast and ovarian cancer syndromes
  • Describe the genetic etiologies of hereditary breast and ovarian cancer
  • Review the impact of 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/ovarian cancer.

Hereditary Breast and Ovarian Cancer Syndromes: Moderate Risk Genes

  • 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 moderate and low penetrance cancer susceptibility genes in clinical multi gene testing panels

Hereditary Breast/Ovarian Cancer Risk Assessment

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

Clinical Management of Hereditary Breast Cancers

  • 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

Hereditary Gastrointestinal Cancer Syndromes
SDR2 Bundle 04

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Objectives

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Instruction
4 Learning Modules &
3 Micro Learnings

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Time
6.75 Hours

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Tasks
4 Quizzes &
1 Case Assignment


Hereditary Gastrointestinal Cancer Syndromes, Part 1: Lynch Syndrome

  • 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 (CRC) Type X

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

  • 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

Hereditary Gastrointestinal Cancer Syndromes, Part 2: Polyposis

  • 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

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

Hereditary Endocrine and Genitourinary Cancer Syndromes
SDR2 Bundle 05

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Objectives

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Instruction
3 Learning Modules &
1 Micro Learning

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Time
3.50 Hours

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Tasks
3 Quizzes &
1 Case Assignment


Hereditary Endocrine Neoplasias

  • 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

  • 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/testing

Hereditary Prostate Cancer

  • Discuss current 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

Pediatric Cancer Syndromes, Hereditary Hematologic Cancer Syndromes
SDR2 Bundle 06

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Objectives

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Instruction
3 Learning Modules

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Time
1.50 Hours

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Tasks
3 Quizzes


Pediatric Cancer Syndromes

  • 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

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

Hereditary Hematologic Cancer Syndromes

  • 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, Hereditary Melanoma
SDR2 Bundle 07

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Objectives

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Instruction
2 Learning Modules

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Time
1.25 Hours

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Tasks
2 Quizzes


Hereditary Genodermatoses

  • 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

  • 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

Tumor/Germline Testing; Understanding and Interpreting Clonal Hematopoiesis
SDR2 Bundle 08

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Objectives

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Instruction
3 Learning Modules &
1 Micro Learning

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Time
3.25 Hours

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Tasks
3 Quizzes


Tumor/Germline Analysis in GCRA Practice, Part 1

  • Identify the distinctions between 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

  • 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

  • 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

ELSI, Psycho-Social and Family Dynamics, Genetic Counseling Strategies
SDR2 Bundle 09

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Objectives

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Instruction
2 Learning Modules &
Many Mock Counseling Samples

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Time
2.50 Hours

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Tasks
2 Quizzes


Ethical, Legal, and Social Issues in Cancer Genetics

  • 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

Psycho-social and Family Dynamics of Hereditary Cancers 

  • 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

Mock Counseling Session, Mock Counseling Case Vignettes

  • Observe the application of cancer risk assessment and counseling skills in the setting of mock initial and follow up genetic cancer risk assessment (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.