At SequenceMD, one of our specialties is diagnosing and managing genetic neurodevelopmental disorders (NDDs). These conditions impact the growth and function of the brain and nervous system, and they are often associated with intellectual and developmental disabilities (IDDs). Within our genetics clinic, we work with three types of NDD patients, who have overlapping but different needs.

Pediatrics to Adults: People We Help with NDDs

1. Newly Diagnosed Children and Young Adults

When children or young adults receive a genetic neurodevelopmental disorder diagnosis, the natural next step is to seek guidance about the prognosis of the condition, proper management, and family planning. For these families, the NDD diagnosis raises immediate questions: What does this mean for my child’s future? What should we expect? What treatments might help?

How We Help:

Our team can provide families with expert evaluation and guidance on genetic neurodevelopmental disorders. Analyzing genetic data can help us:

  • Advise you on the most likely course and outcomes of the NDD
  • Actively manage the condition and known complications
  • Work with subspecialists (neurology, cardiology, etc.) to get you the right care
  • Plan for future transitions from pediatric to adult care
  • Connect families to helpful resources and patient advocacy groups
  • Provide reproductive counseling and family planning information

2. Children Facing Long Wait Times for Genetic Testing

There is a high demand for pediatric genetic testing, but a shortage of practicing geneticists. Children with global developmental delay (GDD), intellectual disability (ID), autism spectrum disorder, or epileptic encephalopathy too often face long waits to be seen. At academic genetic centers, wait times commonly range from 6 months to over 18 months.

As of 2025, the American Academy of Pediatrics (AAP) recommends exome or genome sequencing as first-tier testing for children with GDD and ID. However, very few cases can wait 12 to 18 months. Early interventions depend on having a diagnosis, but long wait times prevent children from getting a diagnosis during critical developmental windows. Delays in genetic testing mean delays in targeted therapies and surveillance that could catch complications before they progress. Instead, families are stuck in limbo. They are left unable to access condition-specific resources, clinical trials, or information on what the future holds.

How We Help:

SequenceMD gives pediatric patients with global development delay and an intellectual disability another option. Following the 2025 AAP recommendations, our clinic offers timely access to genetic counseling and comprehensive pediatric genetic testing. We help families get answers faster, with immediate openings and significantly shorter wait times than many other pediatric genetics providers.

Based on our findings, our team provides actionable management recommendations and coordinates pediatric care with early intervention services and specialists. We also help families connect with the patient advocacy resources and support they need.

3. Adults with IDD Who Have Never Been Tested

Many adults — often 40, 50, 60 years old, or older — have intellectual and developmental disabilities but have lived their entire lives without a genetic diagnosis. They may have received outdated labels (such as mental retardation, cerebral palsy, or autism) without anyone investigating the cause of their condition. These adults live in group homes, supported living facilities, or with aging family members.

How We Help:

There is immense value in genetic testing for adults with IDD. For severe intellectual disability, a genetic cause is found in nearly 80% of patients. In mild cases, the number is closer to 20%. As is seen in research and a review of our own patients, a genetic diagnosis in adults of all ages can help with immediate management, including therapy and medication changes. Our genetic evaluations can also improve preventive care, leading to informed monitoring, risk-reduction strategies, and new specialist referrals. Furthermore, patients benefit from strategic long-term planning through reproductive counseling, family testing, and support resources.

 

How Adult Genetic Evaluations Benefit Children

Beyond the direct benefits that adults with IDDs receive from a genetic diagnosis, the information gained can provide invaluable insights into genetic IDDs. Unfortunately, researchers have limited knowledge of many rare genetic neurodevelopmental conditions. When a child is diagnosed with a rare variant, families too often get the devastating answer: “We don’t know what to expect because there aren’t enough adults with this diagnosis to study.”

This is where adult diagnoses become essential. Adults with genetic IDDs have decades of lived experience—data that could transform care for newly diagnosed children. Every adult who receives a genetic diagnosis contributes to our knowledge base. A 50-year-old adult diagnosed with a specific syndrome today provides 50 years of data that helps clinicians doctors the family of a newly diagnosed 2-year-old.

Learn About our NDD and IDD Genetic Services

SequenceMD provides quality, compassionate care for patients with rare and genetic conditions, from evaluation and diagnosis to lifelong health management. Based in Denver, Colorado, our team sees patients from a variety of U.S. states via in-person and telemedicine visits. Whether you’re a patient or healthcare provider, we welcome you to reach out to our team to learn more about our genetic services for patients with NDDs, IDDs, and the full range of genetic conditions.