Testing for Rare Genetic Diseases
Pediatric Genetic Testing: A 3-Part Webinar Series
Genetic testing in a pediatric environment poses unique challenges with respect to age of disease onset, when to test, patient autonomy, etc., and many primary care providers can benefit from education about these issues. Guidelines and statements exist to help inform scope of practice, and this webinar series from the American Society of Human Genetics (ASHG) will use clinically appropriate cases to address best practices in the genetic testing of children and adolescents.
Webinar 1: When and How to Test
Webinar 2: Testing Methods and Results
Webinar 3: Communication and Management
At the conclusion of the series, participants should be able to:
- Develop a targeted family history to assess genetic risks in children and adolescents Identify clinical indications for whole exome/whole genome sequencing
- Distinguish among different genetic tests and their clinical uses
- Communicate to parents and patients the benefits and limitations, and potential harms of genetic testing
- Explain a tiered testing strategy for children with suspected genetic conditions
- Interpret and explain laboratory genetic test results, including secondary findings
- Locate appropriate genetics support resources and make appropriate referral decisions
- Apply current recommendations to genetic testing throughout the life cycle, from newborns to young adults
- Design a plan for communicating test results to families, including discussion of secondary findings and ethical issues
- Navigate the practical issues (costs, consent, privacy, and laboratory-specific) related to pediatric genetic testing.