Why Genetic Testing Matters
Approximately 80% of rare diseases have underlying genetic causes1. Genetic testing may help uncover an underlying cause, bringing clarity to what may have felt confusing or uncertain. If you or someone you love has unexplained symptoms (such as seizures, missed developmental milestones, or intellectual disability), the cause could be genetic.2 3 Genetic testing may also be helpful for individuals diagnosed with:
- Create a more personalized care or treatment plan
- Improve treatment options (up to 80% of patients with epilepsy received improved treatment after a
genetic diagnosis4) - Potentially reduce symptoms (some patients experienced up to 90% fewer seizures4)
- Connect with others who share the same diagnosis
- Identify clinical trial opportunities
- Support insurance coverage for therapies or equipment
When Might Testing Be Appropriate?
Genetic testing may be considered for:
- Epilepsy or seizures
- Developmental delays
- Intellectual disability
- Congenital conditions (e.g., cleft palate, heart conditions)
- Growth challenges or failure to thrive
- Differences in muscle tone (hypotonia, dystonia, spasticity)
- Hearing or vision differences
- Autism spectrum disorder
- Suspected metabolic or mitochondrial conditions
Always speak with your healthcare provider to determine what testing is appropriate for your situation.
What Is Exome & Genome Sequencing?
Not all genetic tests are the same.
- Chromosomal Microarray (CMA) looks for small deletions or duplications in DNA.
- Panel tests analyze selected genes associated with a specific condition.
- Exome sequencing analyzes more than 22,000 genes.
- Genome sequencing analyzes nearly all of a person’s DNA, including coding and non-coding regions.
Exome and genome sequencing are more comprehensive than panel testing or CMA.
- Exome/genome tests are more than 2x more likely to lead to a diagnosis than CMA.5
- 23% of diagnoses made through exome testing would not have been found with a multi-gene panel.6
Clinical Guidelines
Leading medical organizations recommend exome or genome sequencing in certain cases:
- The American College of Medical Genetics and Genomics (ACMG) recommends exome/genome testing as a first-line test for children with developmental delays, intellectual disabilities, and congenital anomalies.
- The National Society of Genetic Counselors (NSGC) recommends exome or genome sequencing for unexplained epilepsy (supported by the American Epilepsy Society).
- The International Precision Child Health Partnership recommends rapid exome/genome testing for certain NICU patients with unexplained hypotonia.
Cultural & Ethical Considerations
Medical Mistrust Due to Historic Harm
Historical gaps in medical research and healthcare delivery have left lasting impacts on many communities, particularly Black, Indigenous, immigrant, and disability communities. Non-consensual experimentation and misuse of biological samples have understandably contributed to mistrust.
Acknowledging this history is not about dwelling in the past—it is about building a more ethical future.
Today’s standards require:
- Voluntary participation
- Informed consent
- Institutional Review Board (IRB) oversight
- Ethical safeguards to prevent exploitation
Trust is rebuilt through transparency, accountability, and community engagement.
Genetic Data Privacy & Protection
A common question is: Who will have access to my genetic information?
Genetic test results are part of your medical record and are protected under federal privacy laws, including HIPAA.
Before testing, you may want to ask:
- Who will see my results?
- How long will my data be stored?
- Will my sample be used for research?
- Can I opt in or out of future research use?
Informed consent is not just a form—it is a conversation.
