Genomics Access Precision Program
The Genomics Access Precision Program at Children’s National brings clinical care and research together for children with rare genetic conditions. The program helps families and care teams better understand your child’s genetic makeup, learn how it may affect their health and explore available treatment or research options.
Our program focuses on a question many families ask after a diagnosis: “What can we do now to help our child?”
A Team-Based Approach
Our program brings together specialists in clinical genetics, genetic counseling, laboratory science, clinical trials, ethics, regulatory guidance and your child’s specific area of care. This broad team helps ensure that recommendations consider the whole child—not only a genetic test result.
Contact Information
Appointments may be scheduled when families receive a referral to our program from their provider and meet eligibility requirements. We invite patients, families, healthcare providers and researchers to send questions to us. We're here to help.
Why is the Genomics Access Precision Program Needed?
Advances in genetic testing are helping more children receive a diagnosis. But a diagnosis does not always lead to a treatment plan. Families may still face uncertainty because:
- Experts may not yet know exactly how genetic changes cause disease.
- Your child’s genetic variant may be classified as a variant of uncertain significance, meaning there is not enough evidence to know whether it is pathogenic or benign.
- There may be no approved treatment for the condition.
- Clinical trials or emerging therapies may be difficult to find, evaluate or access.
- Families may receive confusing or misleading claims about unproven treatments.
Our program creates a more organized path from genetic findings to treatment plans. The team reviews the evidence, identifies gaps in knowledge and, when needed, studies how a genetic change affects the body. We help families move from a genetic diagnosis toward clear, personalized next steps.
Who May Be Eligible for Our Program?
The Genomics Access Precision Program is designed for children with rare or complex conditions who may benefit from a deeper review of their genetic findings. This may include children with a likely disease-causing genetic variant, a variant without an obvious treatment solution or a complex condition that remains undiagnosed.
The program may support:
- Children admitted to the hospital
- Children receiving outpatient care
- Families seeking a remote second opinion
Eligibility is determined by the program’s genetics specialist and researchers. A case review does not guarantee that testing, a clinical trial or treatment will be available.
How Does the Program Work?
The Genomics Access Precision Program uses a coordinated clinical and research model. Physicians and researchers review each eligible case together and share what they learn. This teamwork helps connect laboratory discoveries with patient care.
Preparing For Your Child's Visits
Visits with the Genomics Access Precision Program allow our medical team to look at your child’s diagnosis, health needs and goals. The team may review:
- Approved treatments and early interventions
- Clinical trials and compassionate-use options
- Medicines, enzyme replacement, supplements or other approaches
- New therapies in development, including gene-based treatments
- Possible benefits, risks, limits and practical steps for access
- Care options at Children’s National and other centers
The team does not promise that a treatment will be available or appropriate. Instead, it gives families a careful review of the evidence so they can make informed decisions with their healthcare providers.
Five Steps We Take to Guide Your Child’s Care
- Case submission: A healthcare provider shares your child’s case for review.
- Team review: Clinicians, genetic counselors and researchers examine your child’s records and genetic findings.
- Focused research, if needed: The team may study the variant or disease process in the laboratory.
- Personalized summary: Your family and care team receive a clear review of the evidence and possible next steps.
- Follow-up support: When appropriate, our program may help families and providers connect with specialists, clinical trials or outside treatment teams.
Our Report for Families and Care Teams
Our program brings its review together in a structured, easy-to-follow report. The report may explain:
- What is known about your child’s genetic finding
- How the finding may be linked to your child’s condition
- What important questions remain
- Which treatments, trials or research paths may be worth discussing
- What next steps your family and care team can consider
This report can help families better understand complex information and help healthcare providers make decisions using one shared source.
Supporting Our Program: Our Patients and Families
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Advancing Rare Disease Research
Each case can also teach researchers something new. Over time, the Genomics Access Precision Program aims to build shared knowledge, laboratory models and research groups that can speed progress for more children with rare diseases. The program also supports careful, ethical study of emerging approaches, including targeted medicines, enzyme therapies, gene-based treatments and more.
By linking patient care with research, our program creates a continuous cycle: patient questions guide scientific study, and new discoveries help care teams consider more personalized options. Learn more about the research happening in our team's labs at the Children's National Research Institute.
