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Educational Workshop and Provider Resources:

Using genomic data for diagnosis and management

Assessing Risk

Risk Assessment

Apply family history data and genetic red flags to guide risk assessment

Genetic Differentials

Genomic Evaluation & Testing Decisions

Develop a genetic differential diagnosis and select genetic tests

Genetic Testing

Genetic Testing Process

Identify the risk, benefits, and limitations of genetic testing for specific patients and provide informed consent

Communicating Risk

Results Interpretation & Application

Interpret genetic testing results, communicate with families, and develop a management plan based on genomic data

Assessing Risk

Session 1: Risk Assessment

Facilitator guide, session slides and printed materials on applying collected family history information and red flags to risk assessment

Genetic Differentials

Session 2: Genomic Evaluation & Testing Decisions

Facilitator guide, session slides and printed materials on narrowing differential diagnosis and selecting appropriate and cost-effective genetic testing

Genetic Testing

Session 3: Genetic Testing Process

Facilitator guide, session slides and printed materials on assessing risks, benefits, and limitations of genetic testing, providing pre-test counseling, and ordering testing

Communicating Risk

Session 4: Results Interpretation & Application

Facilitator guide, session slides and printed materials on interpreting genetic testing results, communicating with families, and developing a management plan

Risk Assessment

Collecting Family History Tool
Provides a template and targeted condition list for collecting and recording clinically relevant family history information.

Family History Assessment Tool
Provides information on how to collect, interpret and gather additional information about family history in risk assessment.

Inheritance Patterns & Recurrence Risks Tool
Demonstrates common inheritance patterns and associated recurrence risks.


Communication Tips
Provides general guidance on counseling patients before, during and after genomic testing.

Communicating Results
Provides guidance on preparing for disclosure of genetic testing results and tips for communicating results to families.

Genetic Differential Diagnosis

Differential Diagnosis Tool
Provides resources and instruction in formulating a genetic differential diagnosis and identifying the appropriate genetic test. 

Genetic Testing

Informed Consent Checklist
Provides a comprehensive informed consent and pre-test counseling checklist that providers can use in clinic. This tool also includes discussion of the general risks and benefits of genetic testing.

Informed Consent Talking Points
Provides examples of communication messages for discussing specific informed consent and genetic testing considerations with families.

Interpreting Results
Addresses key points in interpreting genetic testing and summarizes general interpretations in light of positive, negative, and variant of uncertain significance results.

Chromosomal Microarray Factsheet
Provides general information, detection rate and indications, and indications for chromosomal microarray (aCGH).

Genetic Testing in Minors 
Summarizes professional society guidance on the indications for genetic testing in minors.


Genetic Management Tool
Lists resources that provide guidance on management of genetic disease.

Collaboration with Genetic Specialists

Collaboration Tool
A guide to finding, referring and collaborating with genetics professionals.

Condition Specific Factsheets

Alpers-Huttenlocher syndrome

Angelman syndrome 

Ataxia telangiectasia

Dravet syndrome

Duchenne Muscular Dystrophy

Fragile X syndrome 

Mitochondrial disease 

Neurofibromatosis type 1

Rett syndrome

Spinal Muscular Atrophy

Highlighted Case Studies

Average: 4.5 (2 votes)
Average: 5 (2 votes)
Average: 4.3 (3 votes)
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