Nearly every baby born in the United States now undergoes genetic newborn screening. But did you know that those tests only cover a fraction of their genes? 

Each state has distinct requirements, but these newborn tests typically cover 30 to 50 diseases. For some children, that testing is sufficient. However, humans have approximately 20,000 genes, and researchers estimate that over 10,000 genetic disorders exist. Essentially, newborn screening isn’t giving you the whole picture. The tests are not comprehensive, and genetic conditions can be missed. 

When Should Your Child See a Geneticist?

There are many instances in which you might consider a full genetic evaluation for your child. One example is when a child is admitted to the NICU or PICU, but the symptoms have no obvious cause. Unexplained symptoms are a red flag that could suggest a genetic condition.

In some cases, children with a rare disease can receive an inaccurate or incomplete diagnosis because doctors are unfamiliar with the signs of a genetic condition. If your child has a diagnosis but something seems strange, such as unexpected symptoms, a lack of the usual risk factors, or treatments that don’t work, a genetic evaluation may help you find answers.

You may also want additional testing if you have a family history of a genetic condition or your child has:

  • A diagnosis of an intellectual or developmental disorder
  • A major or several minor birth malformations
  • Unexplained seizures or other health concerns, including abnormally frequent illnesses
  • Ongoing issues with one or more organs (like vision or hearing problems)
  • Chronic behavioral or mood problems
  • A neuromuscular condition that impacts movement
  • Irregular heart rhythm
  • Hormone or growth problems
  • Chronic digestive issues

On their own, these signs do not mean your child has a genetic condition. However, when your child’s health problems have no clear explanation, a genetic evaluation could reveal the cause and a path forward.

How a Genetic Evaluation Could Help You and Your Child

1. Faster diagnosis

Without genetic testing, finding a diagnosis for a child with a rare genetic disease is often time-consuming and costly. It’s tiring and frustrating for children and their caregivers. A genetic diagnosis allows families and their doctors to focus on what actually matters. This means no more unnecessary tests and medical work-ups, saving time and expenses for everyone involved. 

2. Medical history and prognosis insights

With a genetic diagnosis, parents and doctors can reevaluate and better understand the child’s experiences and symptoms. It can even shed light on previously unexplained family medical history. Likewise, it helps families and physicians anticipate how the condition will evolve as well as possible complications and risks.

3. Educated decision-making

A diagnosis will help you make informed decisions about the health and treatment of your child. It allows you to prepare for what’s ahead and avoid any medicines, foods, activities, and other stressors that could trigger or worsen symptoms. The results of a genetic evaluation can also influence future family planning decisions and lead to evaluating other family members for inherited conditions.

4. Disease management and surveillance

Once a diagnosis is known, doctors can monitor symptoms and proactively plan for and manage progression and complications. By doing so, they can often extend patient longevity and quality of life while minimizing unexpected expenses and hospital visits. 

5. Targeted treatment

Many genetic disorders now have better outlooks, thanks to scientific advances and pharmaceutical companies paying more attention to rare and genetic diseases. Treatments for genetic disorders are continually improving and expanding. Tests can sometimes even reveal which drugs will be most effective for a patient. If a treatment doesn’t exist yet, it might soon. By 2025, the FDA may approve 10 to 20 new gene and cell therapies every year.

6. Clinical trials and research

Children with a genetic diagnosis may be able to participate in research on disease impacts, progression, and treatment. These studies help the medical community improve care for current and future patients. Many companies are also investing heavily in treatments for rare genetic disorders and looking to diagnose and enroll participants in their clinical trials. 

7. Advocacy and support

Having a child with an undiagnosed condition and unresolved symptoms can feel overwhelming and isolating. A diagnosis can be the first step to connecting with people with similar experiences and organizations that can provide detailed information on the condition. These communities are a great resource for education, advocacy and support.

To learn more about our pediatric genetic evaluation services, contact SequenceMD at info@sequencemd.com or 303-832-7109 today.