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Breaking Barriers: An RDDC Health Equity Initiative

Genetic Testing & Whole Genome Sequencing: Why Access Matters

Image of a mother hugged by her teenage daughter.
Breaking barrier graphic: 85% of individuals were never offered genetic tesing or counseling.

At the Rare Disease Diversity Coalition (RDDC), we recognize that while genetic testing can be life-changing, access to testing is not always equal. Research shows that individuals from historically marginalized communities are less likely to be referred for genetic testing and counseling and are more likely to experience delays in diagnosis.

We understand that navigating complex healthcare systems can feel overwhelming, especially if you have previously felt dismissed or unheard. Genetic testing decisions should be collaborative, culturally respectful, and grounded in informed consent. Expanding equitable access to testing and inclusive research participation is essential to improving outcomes for all. Equitable access to genetic testing is a critical step toward closing diagnostic gaps and improving care for the #RareWithinRare.

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RDDC

At the Rare Disease Diversity Coalition (RDDC), we recognize that while genetic testing can be life-changing, access to testing is not always equal. Research shows that individuals from historically marginalized communities are less
likely to be referred for genetic testing and counseling and are more likely to experience delays in diagnosis.

We understand that navigating complex healthcare systems can feel overwhelming, especially if you have previously felt dismissed or unheard. Genetic testing decisions should be collaborative, culturally respectful, and grounded in informed consent. Expanding equitable access to testing and inclusive research participation is essential to improving outcomes for all. Equitable access to genetic testing is a critical step toward closing diagnostic gaps and improving care for the #RareWithinRare.

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Our Commitment
to Equity

Equity in rare disease starts with access, but it also requires trust, transparency, and accountability.

At RDDC, we believe genetic testing conversations must be:

  • Culturally responsive

  • Trauma-informed
  • Grounded in informed choice
  • Centered on patient and caregiver voices

Why Genetic Testing Matters

info graphic: 80% of rare diseases have underlying genetic causes

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?

female scientist in the lab studying a genome string.

Genetic testing may be helpful for children or adults who have experienced any of the following:

  • Seizures or epilepsy
  • Delays in learning, growth, or development
  • Intellectual disability
  • Conditions present at birth (such as cleft palate or heart conditions)
  • Trouble gaining weight or growing as expected
  • Muscle tone differences (such as low muscle tone or stiffness)
  • Hearing or vision concerns
  • Autism or traits of autism
  • Possible metabolic or mitochondrial conditions (conditions that affect how the body produces energy)

Genetic testing may also be helpful for individuals who have ongoing symptoms or have completed multiple medical tests or procedures but still do not have a clear diagnosis.

What Is Exome & Genome Sequencing?

female scientist in a lab with large computer screens

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

Baby with a medical swap in mouth.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

2 scientist looking at genome on a computer

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

genome sequence image with DNA.

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.

Genetic Testing Support and Financial Assistance

GeneDx Financial Assistance Program

Helps reduce out-of-pocket costs for clinical genetic testing for rare and complex conditions.

PreventionGenetics Sponsored Genetic Testing Programs

PreventionGenetics (now a subsidiary of Exact
Sciences) partners with pharmaceutical and disease advocacy groups to provide no-cost genetic testing programs for specific rare conditions when clinical eligibility criteria are met (e.g., inherited retinal disease, cholestasis, familial chylomicronemia syndrome, dystrophic epidermolysis bullosa, and more).

Caregiver Action Network + Probably Genetic

Offers no-cost clinical-grade whole exome sequencing plus genetic counseling for eligible patients with medically complex conditions.

My Faulty Gene Assistance Grants

Provides small grants to help cover the costs of diagnostic genetic testing for individuals facing financial barriers.

No-Cost Genetic Testing Programs

(e.g., My Retina Tracker)

Advocacy-linked initiatives like the My Retina Tracker Genetic Testing Program offer no-cost genetic testing and counseling for people with inherited retinal diseases through nonprofit partnerships and sponsored testing programs.

A female doctor swabs a child's mouth.

Know Your Rights: Understanding GINA

The Genetic Information Nondiscrimination Act (GINA) protects individuals from discrimination based on genetic information.
GINA prohibits:

  • Health insurers from using genetic information to determine eligibility or premiums
  • Employers from using genetic information in hiring, firing, or promotion decisions
However, GINA does not apply to:

  • Life insurance

  • Disability insurance
  • Long-term care insurance

Individuals may wish to explore coverage options and understand these nuances before proceeding with testing.

How Genetic Results Are Used

Genetic test results can:

  • Confirm or clarify a diagnosis
  • Guide treatment decisions
  • Identify clinical trial eligibility
  • Inform family members about inherited risks

With consent, results may also contribute to de-identified research databases to improve understanding of rare diseases. Participation in research is always optional.

For the #RareWithinRare, ethical use of genetic data must prioritize representation, equity, and respect.

A doctor and patient review test results wth a female patient..

How to Access Testing

Many individuals and families face a long search for answers, often called a diagnostic journey. This journey can stall when genetic testing is not offered or not pursued, even after repeated tests and specialist visits. Genetic testing may help guide next steps in care. If you or someone you care for is navigating this experience, please contact RDDC@bwhi.org for information and support.

1
Talk to Your Doctor

Discuss your symptoms and ask whether genetic testing may be appropriate. Before your appointment:

  • Contact your insurance provider to understand coverage
  • Ask about prior authorization requirements
  • Share any relevant family history
How To Talk To Your Child's Doctor About Genetic Testing
Could Exome or Genome Testing Be Right for You?
2
Explore Telehealth Options

If genetics specialists are not available locally, telehealth services may reduce geographic barriers. A genetic expert can review symptoms via video consultation and determine whether testing is appropriate. If testing is ordered, a
sample collection kit may be shipped to your home.

Genome Medical Telehealth Services

Our Commitment

At the Rare Disease Diversity Coalition, we believe access to genetic testing should not depend on race, zip code, income, or insurance status. We are committed to advancing policies, partnerships, and community education efforts that close diagnostic gaps and ensure every family has access to answers, care, and opportunity.

Frequently Asked Questions

Can genetic testing help adults?

Yes. While often discussed in pediatric settings, adults with unexplained symptoms may also benefit from testing.

Is genetic testing required?

No. Testing is voluntary and should always be based on the informed consent of the patient or their authorized representative.

Will my genetic data be shared?

Your data is protected by privacy laws. Research participation is optional and requires consent.

Will insurance cover genetic testing?

Coverage varies. Many insurers now cover exome/genome testing in specific cases, but prior authorization may be required. For individuals who are uninsured, underinsured, or facing high out-of-pocket costs, some laboratories and nonprofit organizations offer patient assistance programs or subsidized testing options to help reduce financial barriers.

References

1. Bavisetty S, Grody WW, Yazdani S. Emergence of pediatric rare diseases: Review of present policies and opportunities for improvement. Rare Dis. 2013;1:e23579.

2. Savatt JM, Myers SM. Genetic testing in neurodevelopmental disorders. Front Pediatr. 2021;9:526779.

3. Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037.

4. Sheidley BR, Smith L, et al. Genetic testing for the epilepsies: A systematic review. Epilepsia. 2022;63(2):375-387.

5. Dillon OJ, Lunke S, Stark Z, et al. Exome sequencing has higher diagnostic yield compared with targeted gene panels in neurodevelopmental disorders. Eur J Hum Genet. 2018;26(5):644-651.

6. Smith L, et al. Diagnostic yield and clinical utility of genetic testing in epilepsy and neurodevelopmental disorders. J Genet Couns. 2022.

7. Rare Disease Diversity Coalition (RDDC); National Organization for Rare Disorders (NORD). Inequities in the Rare Disease Community: Findings from a National Survey. 2024.

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