Genomics in Healthcare

Overview
It is important to recognize when to consider a genetic cause of disease and understand the genetic testing options that are available to providers. In this module, you will be introduced to different types of genetic and genomic testing technologies and indications. We will use three common indications for genetic testing (cancer, coronary artery disease, and carrier screening) to discuss screening, testing, and referral to genetics services. This information will be an important foundation for the rest of the course. 

Objectives

• Describe the role of genetics and genomics in primary care, including factors that influence care recommendations. 
• Apply professional guidelines for care and genetic testing in the setting of cancer, hypercholesterolemia, and pregnancy.
• Describe the role of genetic services in patient care, including genetic counselors and geneticists.

Module 1 includes the following:
1-1 Genetics in Practice and Partnering with Genetic Services
1-2 Genetic Testing Options: Chromosomes to Whole Exome Sequencing
1-3 Case Example: Cancer and Using the National Comprehensive Cancer Network (NCCN) Guidelines
1-4 Case Example: Familial Hypercholesterolemia and Using Guidelines
1-5 Case Example: Carrier Screening in the Pregnant/Preconception Setting

Your presenter in this video is Sarah Bray, MS, CGC.

Module 1-1 Objectives:

• Describe the role of genetics and genomics in primary care, including factors that influence care recommendations.
• Review CDC Tier 1 conditions and ACMG 78* genetic testing recommendations for actionable genetic information.
• Explain the goal of Tier 1 and ACMG 78* in public health.
• Describe the role of genetic services in patient care, including genetic counselors and geneticists.

*During the course of creating this module, the ACMG updated their list from 73 genes to 78 genes. Please see the PDF of Module 1-1 Slides, available in the Course Resources Module above. The PDF version has been updated to reflect the 78 genes.

Your presenter in this video is Sarah Bray, MS, CGC.

Module 1-2 Objectives:

• Compare and contrast different types of genetic testing, including chromosome analysis, SNP genotyping, single gene sequencing, genetic panel testing, whole genome sequencing, and whole exome sequencing.
• Recognize which tests are often used in different clinical scenarios, and identify potential genetic testing results.
• Judge the utility of these different genetic testing options.

From this lecture, you should better understand the types and uses of different genetic testing, several of which will appear in your quiz at the end of the module.

Your presenter in this video is Heewon Lee, MS, CGC.

Module 1-3 Objectives:

• Describe the etiology and manifestations of hereditary cancer, including Hereditary Breast and Ovarian Cancer (HBOC) and Lynch syndrome.
• Evaluate current guidelines regarding hereditary cancer.
• Devise a plan for evaluating and referring/testing for hereditary cancer in appropriate patients. 
  

Your presenter in this video is Heather Zierhut, PhD, MS, CGC.

Module 1-4 Objectives:

• Describe current guidelines regarding general population cholesterol screening.
• Outline the etiology and manifestations of Familial Hypercholesterolemia (FH) and how they differ from non-genetic forms of hypercholesterolemia. 
• Summarize the primary clinical and genetic diagnostic criteria of FH.  
• Apply professional guidelines for care and genetic testing in the setting of hypercholesterolemia.

Your presenter in this video is Elena Fisher, MS, CGC.

Module 1-5 Objectives:

• Outline the current practice recommendations for carrier screening.
• Apply professional guidelines for care and genetic testing in the setting of pregnancy.
• Distinguish between carrier testing options.
• Evaluate limitations of carrier testing, and examine when different carrier testing options may or may not be useful.
• Explain pre-test counseling considerations and information to share.

Things to remember
This module covered 1-1 Genetics in Practice and Partnering with Genetic Services, 1-2 Genetic Testing Options: Chromosomes to Whole Exome Sequencing, 1-3 Case Example: Cancer and Using the National Comprehensive Cancer Network (NCCN) Guidelines, 1-4 Case Example: Familial Hypercholesterolemia and Using Guidelines, and 1-5 Case Example: Carrier Screening in the Pregnant/Preconception Setting.

Key concepts from this module are:

• The process of referring to genetic testing, genetics services, and genetic counseling (a collaborative care model).
• The use of specialty-specific guidelines for screening and testing of hereditary conditions related to cancer, heart disease, and pregnancy.
• The role of population-based screening and panel testing for clinically actionable genetic conditions.

Additional Resources that may be of interest to you are available in the Course Resource Module above.

Please proceed to take the Module 1 Quiz.

Overview
This module will continue to follow the previously discussed cases in their testing pathways. By reviewing different testing outcomes and next steps in each scenario, you will be provided with guidance on how to approach similar results in your own clinical practice. This will also help to plan for similar results and recognize various resources to aid in primary care medical management.

Objectives

• Compare different types of genetic testing and understand interpretation of results in various scenarios and inheritance patterns.
• Recognize next steps after test results are received in the setting of cancer, hypercholesterolemia, and pregnancy.
• Describe concepts such as informative vs uninformative results, complex inheritance patterns, residual risk, and how to incorporate result interpretation.

Module 2 includes the following:
2-1 Cancer Genetic Testing Results
2-2 Familial Hypercholesterolemia Genetic Testing Results
2-3 Carrier Screening Genetic Testing Results

Your presenter in this video is Heewon Lee, MS, CGC.

Module 2-1 Objectives:

• Identify potential genetic testing results in a hereditary cancer setting.
• Plan how to interpret and act on positive, negative, and variants of uncertain significance (VUS) genetic testing results.
• Compare informative and uninformative negative genetic testing results.
• Describe how to assess a variant and evaluate pathogenicity based on validity of controls and different genetic databases.

Your presenter in this video is Heather Zierhut, PhD, MS, CGC.

Module 2-2 Objectives:

• Identify potential familial hypercholesterolemia genetic testing results in the setting of clinical hypercholesterolemia.
• Plan how to interpret and act on positive, negative, and variant of uncertain significance (VUS) genetic testing results.
• Describe how to assess genetic testing results in both Mendelian single gene disorders, as well as complex, multifactorial disease.
• Identify factors influencing multifactorial inheritance and how different patterns of inheritance influence risk assessment.

Your presenter in this video is Elena Fisher, MS, CGC.

Module 2-3 Objectives:

• Distinguish between types of carrier testing results and level of risk to patient and pregnancy.
• Explain post-test counseling considerations and information to share.
• Evaluate next steps and options for the patient once results are returned.

Things to remember

This module covered 2-1 Cancer Genetic Testing Results, 2-2 Familial Hypercholesterolemia Genetic Testing Results, and 2-3 Carrier Screening Genetic Testing Results.

Key concepts from this module are:

• Review of case examples that show positive, negative, and VUS genetic testing results and the implications for the patient and medical management in primary care.
• Understand how clinical interpretation of test results changes based on clinical scenarios and the reason for the testing, including concepts such as informative vs. uninformative results, complex inheritance patterns, and residual risk. 
• Outline resources for guidance around potential test results in the clinical scenarios of cancer, hypercholesterolemia, and pregnancy.

Additional Resources that may be of interest to you are available in the Course Resource Module above.

Please proceed to take the Module 2 Quiz. 

Overview

The purpose of this module is to understand and analyze the utility of Direct-to-Consumer Genetic Testing (DTC-GT) in both ancestry and health data. You may come across situations in your clinical practice that are unusual, such as a patient bringing in their genetic testing results from a DTC-GT company or genetic testing results that you've never seen before. While you can't be prepared for every possible scenario, it's important to learn the skills and have the resources to analyze the meaning and validity of these types of genetic results. This way, you can know how and when to integrate these results into care.

Objectives

• Analyze the implications of DTC-GT for health and ancestry for multiple populations.
• Review how methodologies such as genome wide association studies (GWAS) are used to detect SNPs and create polygenic risk scores (PRS), which are often used in DTC-GT.
• Describe and evaluate genetic databases and controls.

Module 3 includes the following:
3-1 Overview of DTC Testing
3-2 Case Example: Healthy Proactive Patient
3-3 Case Example: Adopted Healthy Patient
3-4 Future Directions of Genetic/Genomic Testing, including use in COVID studies

Your presenter in this video is Heewon Lee, MS, CGC.

Module 3-1 Objectives:

•  Define DTC-GT and motivations for pursuing this testing.
•  Describe methodologies of testing, including single nucleotide polymorphism testing and polygenic risk scores, and important characteristics of these studies.
•  Critique the benefits and limitation of this type of genome-based testing.
•  Identify differences between "recreational" and "clinical" DTC-GT.

Your presenter in this video is Heewon Lee, MS, CGC.

Module 3-2 Objectives:

• Recognize common areas of patient interest in DTC-GT, as related to health.
• Explore the use of pharmacogenomics in primary care practice. 
• Analyze DTC-GT and clinical implications of results in healthcare and management.
• Strategize how to review DTC-GT results and address concerns with patients.

Your presenter in this video is Heewon Lee, MS, CGC.

Module 3-3 Objectives:

• Recognize common areas of patient interest in DTC-GT, as related to ancestry. Includes DNA data privacy and use in public databases and research.  
• Analyze DTC-GT and implications of results in identifying historical geographic origin, family members, and other uses of genetic information. 
• Strategize how to review DTC-GT results and address ancestry/ethnicity information with patients.

Your presenter in this video is Iman Kashmola-Perez, MS, CGC.

Module 3-4 Objectives:

• Provide examples of past, present, and future areas of genetic study and efforts.
• Describe Genome-Wide Association Studies (GWAS) and how they can be applied in emerging diseases.
• Identify areas of genetic study in COVID-19 research.

Things to remember

This module covered 3-1 Overview of DTC-GT, 3-2 Case Example: Healthy Proactive Patient, 3-3 Case Example: Adopted Healthy Patient, and 3-4 Future Directions of Genetic/Genomic Testing, including use in COVID studies.

Key concepts from this module are:

• Direct-to-consumer genetic testing: health and ancestry
• Mendelian vs. complex disease risk assessment
• Genetic databases/controls and utility 

Additional Resources that may be of interest to you are available in the Course Resource Module above.

Please proceed to take the Module 3 Quiz. 

Overview
This module will review patients’ frequently asked questions about genetics as well as examine ethical and legal topics in genetics, genetic testing, and genetic counseling. We will also discuss the application of genetic testing and counseling beyond clinical practice. In this module, we'll also explore other contexts when genetic health is involved.

Objectives

• Review commonly asked questions about genetic counseling and genetic testing and be able to outline practical information around informed consent, test cost and turn around time, updating of results, and banking DNA for future use.
• Recognize legal, ethical, and privacy issues associated with population-based screening programs and integration of genetics and genetic testing into primary care practice. 
• Identify resources available to reference when navigating complex situations.

Module 4 includes the following:
4-1 FAQs and Other Considerations in Genetics, Genetic Counseling, and Genetic Testing
4-2 Case Examples: Challenging Case Studies in Practice

Your presenter in this video is Iman Kashmola-Perez, MS, CGC.

Module 4-1 Objectives:

• Review common questions patients ask providers about genetics and genetic testing.
• Describe the process of informed consent and be able to discuss cost, turn around time, and results that update over time. 

Your presenter in this video is Heewon Lee,MS, CGC.

Module 4-2 Objectives:

• Recognize legal, ethical, and privacy issues associated with population-based screening programs and integration of genetics and genetic testing into primary care practices.
• Review association positions on genetic testing of minors.

Things to remember

This module covered 4-1 FAQs and Other Considerations in Genetics, Genetic Counseling, and Genetic Testing and 4-2 Case Examples: Challenging Case Studies in Practice.

Key concepts from this module are:

• Overview of commonly asked questions about genetic testing
• General legal and ethical considerations
• Case examples regarding privacy, access to DNA, testing of minors

Please proceed to take the Module 4 Quiz.

Upon successful completion of the Module 4 Quiz, you must complete your evaluation to obtain your certification of completion. To access your evaluation navigate to My CE > Evaluations & Certificates.