Pediatric Medical Genetics: Genetic Disorders in Children

We can help you to navigate the intricacies of pediatric genetic disorders, fostering comprehensive clinical management and informed decision-making for you and your patients. 

Timely Genetic Assessment for Pediatric Patients

When the possibility of a genetic disorder arises in a child or baby, a genetic evaluation with a clinical (medical) geneticist and/or a genetic counselor is often recommended. 

However, given the shortage of pediatric genetic specialists, offering easily accessible and convenient high-value genetic services and genetic testing to your patients may not be feasible in your area. Genome Medical provides virtual pediatric genetic evaluations within just one week. Patients are seen by our genetic counselors who are well trained in pediatrics and rare diseases. Working in conjunction with our staff of medical geneticists, our genetic counselors can review photos, labs and imaging to ensure the best diagnostic approach.

woman holding child outside

Benefits of Pediatric Genetics Evaluation

Diagnostic Insight

Insight into a patient’s diagnosis equips clinicians to anticipate present and future medical needs. Understanding the nuances of a genetic disease enables providers to be proactive about early detection, screenings, monitoring, and preventative care. For example, these insights can help your providers and patients better manage cardiac risks associated with Marfan syndrome or vision issues brought on by Usher syndrome.

genetic evaluation of child
Informed Treatment Approaches

Detailed knowledge of the patient’s specific genetic diagnosis allows clinicians to apply evidence-based care guidelines to manage the given pediatric genetic condition. It also allows your organization to collaborate with other institutions and local agencies to provide tailored resources and interventions for patients.

Two genetic specialists
Accessing Support Networks

Understanding a genetic diagnosis can begin the process of establishing a network of support, connecting patients and their family with peers who are navigating similar challenges and engaging advocacy groups who are there to help. These support groups and communities are critical to helping families feel less alone as they navigate ongoing care and treatment.

young couple holding new baby
Enable Holistic Risk Assessment

Knowledge of a genetic diagnosis within a family is also important for the care of siblings and other relatives who may have the same condition or family members assessing risk when family planning.

young kid in library holding books

Pediatric Genetic Counseling and Genetic Test Facilitation Services

Engaging the expertise of Genome Medical’s clinical geneticists and certified genetic counselors can help you provide timely genetic counseling and genetic testing to your patients. Our experts can unravel the genetic underpinnings of suspected pediatric genetic conditions. Armed with precise genetic diagnoses, our pediatric specialists support care teams with guidance to inform evidence-based treatment strategies and optimal patient care specific to the child’s condition.

With Genome Medical, patients can conveniently receive a pediatric genetics consultation from home. We will recommend referrals for an in-person physical examination when needed and can order genetic testing, as medically appropriate. We are licensed to deliver genetic services in all 50 states with a clinical team that includes medical geneticists, genetic counselors, primary care doctors and pharmacists.

smiling kid being lifted in the air

Pediatric Genetic Disorders: Across All Life Stages

Pediatric genetic disorders can impact health across a broad age spectrum, from newborn screening to adults presenting with symptoms for the first time. Genetic evaluations – from a certified genetic counselor – provide valuable insights tailored to the child’s developmental stage and genetic condition.

After a consultation, our genetic experts may recommend specialized genetic tests matched to the child’s clinical presentation and family history. The goal is to determine if an underlying genetic condition explains their health challenges and, if so, to provide a personalized plan of care. 

Common indications for a pediatric genetic evaluation  include:

  • Delays in growth and development
  • Multiple congenital anomalies
  • Neurological or neuromuscular disorders
  • Hearing and vision loss
  • Inherited disorders of the cardiovascular system (aortopathy, cardiomyopathy, arrhythmias)
  • Disorders of immune regulation (immunodeficiency or autoimmunity)
  • Concern for a metabolic disorder
  • Skeletal dysplasias
  • Pediatric malignancy
  • Rare pediatric presentations across gastroenterology, pulmonology, endocrinology and many others
mother and daughter meeting with a geneticist

What Your Patients Can Expect From a Pediatric Genetics Evaluation

Our pediatric genetic specialists start by thoroughly reviewing the child’s signs and symptoms, health history, and family medical history to uncover information that may indicate an inherited genetic disorder. This initial evaluation can uncover other affected relatives and patterns of inheritance.

We take time to understand the child’s challenges holistically – not just their genetics. We recognize that each child is unique and we work closely with families to address their individual needs and concerns.

If features suggest a potential genetic condition, we’ll review the genetic testing options to be considered and tests can be ordered by our clinical staff as appropriate. We can coordinate testing logistics, including sample collection kits for saliva or blood as needed. We also help ensure insurance authorization procedures are followed.

Once results are available, our expert team interprets and reviews the findings, makes care recommendations, and delivers a visit summary for the patient and their providers to use for ongoing care. This may include treatment options, referrals to specialty clinics, or recommendations for additional testing. Throughout the process, questions and concerns from family members are addressed with care and compassion.

child with parent sitting on dock

The Benefits of an Accurate Diagnosis

Identifying the precise genetic cause of a child’s signs symptoms can have far-reaching benefits for health management and family support:

  • Enables proactive health screenings and risk assessment tailored to the disorder
  • Allows early intervention services to begin when most effective
  • Guides discussions of prognosis and anticipated milestones
  • Informs reproductive planning and genetic counseling for parents
  • Connects families with social services, educational resources and support groups
  • Reduces uncertainty and provides answers to “why?”
  • Opens doors to clinical trials or emerging gene therapies
  • Narrows focus for coordinated care across specialties
  • Avoids unnecessary, invasive or costly diagnostic procedures
  • Empowers advocacy and builds awareness for rare disorders
doctor listening to baby's heart

Partnering With Families on the Diagnostic Journey

The search for a child’s diagnosis can be an emotional rollercoaster for families. Our team is deeply committed to:

  • Addressing parents’ questions, concerns and emotions with compassion
  • Using easy-to-understand terms to explain complex topics
  • Respecting parents as experts regarding their child’s care
  • Guiding families through difficult decisions with empathy
  • Coordinating care with the child’s care team
  • Connecting families to much-needed support resources and communities


The diagnostic odyssey ends here. Genome Medical looks forward to partnering with you to solve the genetic puzzle for your patients – today and as future needs arise.

Father and child on genetics journey

Access Genetic Insights Faster with Genome Medical

Waiting months for answers is frustrating for clinicians and agonizing for parents. Genome Medical can expand your capacity to provide timely pediatric genetic services by:

  • Offering expert genetic evaluation and counseling
  • Providing guided genetic test selection and test coordination based on the child’s symptoms
  • Managing insurance authorizations
  • Interpreting complex results and explaining implications
  • Supplying customized visit summary to inform care plans
  • Helping families understand diagnoses, what to expect, and how to adapt
  • Supporting cascade testing of relevant family members, even in other states


Our goal is to simplify the process of accessing expert genetic insights so you can optimize care for your young patients. Contact us today to learn more about our pediatric genetic services.

parent holding child

Case Study: Pediatric Hospital Reduces Genetics Wait Times

When patients had to wait 6-12 months for a pediatric genetic consultation as demand for genetic services was growing, Valley Children’s Healthcare turned to Genome Medical for support. By partnering with us, they expanded access to genetic services and enabled patients to meet with a pediatric genetic counselor in less than one week.

Pediatric genetics Illustration