What is the process for undergoing genetic testing?

The Process for Undergoing Genetic Testing

Genetic testing should be conducted through a healthcare professional with appropriate expertise, as it is a complex process requiring proper interpretation and counseling before and after testing.1

Initial Steps in the Genetic Testing Process

• Consult with a healthcare provider (primary care physician, specialist, or genetic counselor) to determine if genetic testing is appropriate based on your personal and family medical history 1
• Be referred to a specialized clinic or center that offers genetic testing and supporting services; direct-to-consumer genetic tests are not recommended for clinical diagnosis 1
• Meet with a genetics expert such as a certified medical geneticist or genetic counselor who can help determine whether genetic testing should be performed 1

Pre-Test Genetic Counseling

• Participate in pre-test genetic counseling, which is essential before undergoing any genetic testing 1, 2
• During counseling, you will:
  • Review your three-generation family medical history 1
  • Discuss the purpose, benefits, limitations, and risks of genetic testing 1
  • Learn about potential implications of test results for yourself and family members 1
  • Receive information about privacy protections and potential discrimination concerns 1
  • Provide informed consent that considers your literacy level, comprehension, and sociocultural background 1, 2

Testing Process

• Sample collection (typically blood or saliva) following standardized procedures 1
• Testing should be conducted in a laboratory accredited by the Clinical Laboratory Improvement Amendments (CLIA) program 1
• The appropriate test will be selected based on your specific situation and clinical indication 1, 3
• Testing may involve single-gene analysis, multi-gene panels, or more comprehensive genomic testing depending on the clinical scenario 1

Post-Test Genetic Counseling

• After results are available, participate in post-test genetic counseling to understand the findings 1
• During this session, you will:
  • Receive an explanation of test results and their implications for your health 1
  • Discuss management recommendations based on findings 1
  • Consider implications for family members and potential cascade testing 1
  • Address psychological and emotional responses to results 4, 2
  • Receive referrals to appropriate specialists or support resources if needed 1

Important Considerations

• Genetic testing results may have implications for health insurance and employment; the Genetic Information Nondiscrimination Act (GINA) provides some protections against discrimination 1
• Be aware that GINA does not cover life or disability insurance, military employment, or companies with fewer than 15 employees 1
• Understand that genetic test results may be uncertain or inconclusive in some cases 1
• Consider that testing may reveal unexpected findings unrelated to the original reason for testing 1

Common Pitfalls to Avoid

• Avoid direct-to-consumer genetic tests for clinical decision-making, as they often lack proper interpretation and follow-up 1, 5
• Do not undergo genetic testing without appropriate pre-test counseling, as this may lead to misunderstanding of results 1, 2
• Be cautious about tests that claim to predict complex traits like athletic ability or wellness, as these often lack scientific validity 1, 5
• Remember that a negative test result does not always rule out a genetic condition, particularly if there is a strong family history 1

By following this structured approach with professional guidance, you can ensure that genetic testing provides meaningful information while minimizing potential harms or misunderstandings.