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Confidently guide genetic testing consent
Everything you need to help explain exome and genome testing, from result types to secondary findings, in one clear, structured place.
A simple way to guide patients
What the video covers
Understanding the test
- Purpose of exome and genome sequencing
- How genetic testing can help identify underlying conditions
- Benefits and limitations of testing
Results & findings
- Positive, negative, and variant of uncertain significance (VUS)
- Optional secondary findings
- Additional or unexpected findings
Considerations & consent
- Role of family samples (including trio testing)
- Privacy protections (GINA) and limitations
- Data use and research participation
Understanding their test results
Genetic testing results can provide valuable insights to help guide diagnosis, care, and next steps. Results may vary, but each outcome is supported with clear information and guidance.
The role of family samples
Including two biological relatives, most commonly parents, can help to better understand genetic findings. It can increase the likelihood of identifying a diagnosis, help clarify uncertain results, and provide more context for how genetic changes are inherited.
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Understanding Secondary Findings
Why some patients
choose to opt in
- Want to learn about additional health risks
- Pefer a more comprehensive understanding of their genetic information
- May benefit from early screening or preventive care
Why some patients
choose to opt out
- Prefer to focus only on the primary reason for testing
- May not want additional findings that could create uncertainty or anxiety
- Want to limit information to what is immediately relevant
What are some examples of secondary findings?
Secondary findings are genetic changes associated with a specific subset of conditions that are medically actionable, meaning there are established steps for screening, prevention, or treatment.
Common examples include:
- Hereditary cancer risk: Variants in genes such as BRCA1 or BRCA2 that increase the risk of breast, ovarian, and other cancers that lead to earlier or more frequent screening.
- Cardiovascular conditions: Variants associated with conditions like inherited arrhythmias or cardiomyopathies, which require monitoring or preventive care to reduce cardiovascular risk.
- Metabolic conditions: Variants associated with the way the body metabolizes, which can be managed with diet, supplementation or specialized therapies to minimize features of the disease.
Limitations of testing
Genetic testing is a powerful tool, but it does have limitations. In some cases, testing may not identify a genetic cause, even if one exists. Results are based on current scientific knowledge, which continues to evolve over time, and reanalysis in the future may provide additional insights.
Unexpected findings
Testing may identify findings unrelated to the reason for testing that could still impact medical care. These additional reportable findings are not part of the ACMG secondary findings list and cannot be opted out of. Testing may also reveal unexpected biological relationships, such as misattributed parentage or consanguinity.
Privacy and protections (GINA)
It’s important for patients to understand how their genetic information is protected. The Genetic Information Nondiscrimination Act (GINA) protects against discrimination in health insurance and employment. However, it does not apply to life, disability, or long-term care insurance, and some groups may not be covered.
Data use and research
Information collected as part of genetic testing has the ability to contribute to a broader understanding of human health. De-identified genetic data can be used to support research and improve interpretation and understanding of genes and diseases over time. Patients have the option to be contacted about future research opportunities.