How To Read A Genetic Test Report?

A genetic test report can provide deep insights into your baby’s health. Unfortunately, these insights are often difficult and challenging to interpret. Therefore, it is common for parents to feel overwhelmed while trying to make sense of such technical information. If that's the case with you, we would like to help. Use our step-by-step guide and get off to a good start in analyzing your baby's genetic test results.

Understanding Your Baby’s Genetic Test Report

1. Demographic Information

Your baby's genetic test report begins with a demographic section. It states basic details like your or your baby's name, date of birth, gender, as well as the name of the test. It also indicates information about the type of sample and when it was collected, received, and reported. This, unlike other sections of the report, is straightforward and easier to understand.

2. Clinical History

As the name suggests, this section summarizes the baby's medical history and describes why a baby is undergoing a newborn genetic test. The reasons can be many, including unexplained illness, unclear symptomatology, family history of a genetic condition, proactive testing, and more. 

3. Test Methodology

Our genes form proteins that are responsible for a variety of functions. In some cases, these genes contain a variation, i.e., a change in their standard structure or composition. Such genes give rise to abnormal proteins that fail to perform their functions. And this causes a baby to develop or have a genetic condition. 

Our newborn genetic tests analyze a curated list of genes associated with childhood-onset conditions. Variations in these specific genes have evidence to cause genetic conditions in newborns. 

GenomeScope NICU tests use an advanced DNA sequencing technology known as Next-Generation sequencing (NGS) to analyze 4000+ & 6000+ genes respectively. This technology reads your baby's DNA to identify variations in the target regions with a detection rate of >95%, reporting accuracy of >99%, and a quality score of Q30.

A quality score measures the probability of identifying or reading a gene incorrectly. The higher the score, the more accurate results. Our test yields a result with a quality score of Q30, which means that the chances of error in the genetic test report are just 0.1%.

4. Results

Results are the most important part of your baby's genetic report. The section is packed with information related to the variations detected in genes within our restricted panel, their nature, location, classification, and the type of disease they can cause.

A test can present three types of results, including: ¹

• Positive report: A disease-causing variation was identified in genes under review. 
• Negative report: No change or variation was detected in the genes under review.
• Uninformative report: A change or variation in the gene has been detected but can't be classified as there is insufficient data available to classify it as a disease causing variation.

The variation can be homozygous if present in both copies of the genes or heterozygous if present only in one copy of the gene. They can be passed down from parents to offspring in Autosomal Recessive, Autosomal Dominant, or X-Linked Recessive inheritance pattern.

The reported variations are further classified according to the ACMG variant differentiation guidelines, on the basis of their disease-causing ability.

5. Test Limitations

Even with a high reporting accuracy and strong detection rate, our newborn genetic tests present certain limitations, like:

• The genetic test report does not rule out the presence of a disease-causing variant as the tests have a restricted gene panel specific to childhood-onset conditions. Further testing is recommended if the baby develops symptoms in the future.
• It also does not guarantee the lifelong validity of the results. Genetic testing may show some variations in the future with the discovery of new pathogenic variations.
• Our genetic test results do not cover lifestyle diseases like blood pressure, cholesterol, adult disorders, etc.
• We do not report carrier status for autosomal recessive genetic conditions in this test. Individuals may opt for knowing their carrier status after 18 years or older when they can make an informed decision regarding the implications of the test.