· Nicole Belles · Genetics 101
How does GeneSprout differ from other screenings or tests?
From consumer DNA kits to NIPT, carrier screening, and the newborn heel stick—here's how GeneSprout compares to the genetic tests your family may already know.
How does GeneSprout differ from other genetic screenings offered to consumers?
GeneSprout genetic screening uses clinical grade testing for both whole exome and whole genome sequencing. When sequencing DNA, there is a concept called coverage. Coverage refers to the number of times the sequencing machine will sequence your genome. GeneSprout’s whole exome screening is 80x on average and uses 1-2% of DNA (30-50 million DNA bases). GeneSprout’s whole genome sequencing is 30x and uses 100% of DNA (~3 billion bases).
Some companies offer genotyping, which detects specific, known genetic variants at targeted locations (roughly 0.01-0.1% of DNA) and have low coverage (e.g., 0.4x). Due to its small scope, genotyping is often offered at a low price point for identifying only ancestry or common health markers. Some other companies also offer whole exome or whole genome sequencing but at lower coverage.
I had genetic screening while pregnant (carrier screening, NIPT), what does GeneSprout screening add?
During pregnancy, many parents have NIPT (non-invasive pregnancy testing), which is a blood test determining the risk of chromosomal abnormalities of the fetus. NIPT detects conditions such as Down syndrome (trisomy 21), trisomy 13, and trisomy 18. Some expanded NIPT panels now include sex chromosome conditions (Turner syndrome, Klinefelter syndrome) and microdeletions (Prader-Willi/Angelman syndrome). Nevertheless, NIPT screens for up to 20 or so conditions, and NIPT does not detect the conditions on the GeneSprout tests.
Some parents elect to get carrier screening, which is a genetic test to see if a person carries a gene for certain inherited conditions if they could pass it on to their baby. If both parents are carriers for the same genetic condition, there is a chance that their child could be affected. Common conditions that are included in carrier screens are cystic fibrosis, spinal muscular atrophy, and Tay-Sachs disease.
GeneSprout genetic screening is different from genetic screening during pregnancy. Carrier screening is done before or during pregnancy, while GeneSprout genetic sequencing is done after birth. Furthermore, carrier screening lets parents know if they could have a child with a genetic condition. Even if both parents are carriers for a genetic condition, the chance that their child has the condition is 25%. On the other hand, GeneSprout examines risk for the genetic condition in the child.
How is GeneSprout different from the newborn screen?
GeneSprout testing is different from the newborn screen your child had at birth. The newborn screen, which is a heel stick, is a biochemical test. It detects any biochemical markers in the blood that are abnormal at that moment in time. It screens for between ~35-61 conditions, depending on which state you live in.
The GeneSprout test is a genetic screen that informs you of increased risk to genetic conditions, even when biochemical markers are normal. The GeneSprout test is complementary to newborn screenings, providing supplemental genetic information about disease risk to families.
Is GeneSprout testing like the testing I got for my dog?
A dog DNA test and GeneSprout genetic screenings are both non-invasive, at-home, cheek swab kits. Dog DNA tests, like Embark or Wisdom Panel, help identify a dog’s breed mix, traits and potential genetic health risks.
Nevertheless, GeneSprout genetic screening is different from dog DNA tests. First, GeneSprout tests use genetic sequencing to determine the actual sequence. Dog DNA tests are microarray, or genotyping tests, that focus on preselected positions where genetic variation is known to occur. Additionally, GeneSprout genetic screening is a DNA test that focuses only on genetic conditions that are actionable in childhood. It identifies conditions that you and your doctor can do something about early in childhood. With GeneSprout, you receive a parent-friendly genetic results report, that is personalized for your child, and guidance from our physician-lead navigation program. GeneSprout helps you understand the initial genetic finding, will establish a personalized condition roadmap for your child and provide ongoing monitoring and support.
How is GeneSprout different from Preimplantation Genetic Testing?
Preimplantation genetic screening is testing performed on an embryo in the early stages of development. It allows doctors to look for abnormalities caused by too many or too few chromosomes in the embryo’s DNA. Such abnormalities are common, and their incidence increases with maternal age. PGT tests for specific, known risks and helps reduce the risk of miscarriage.
GeneSprout genetic screening is different from preimplantation genetic testing on embryos. GeneSprout is whole exome or whole genome sequencing for children that focuses on genetic conditions that are actionable in childhood. It identifies conditions that can be mitigated or prevented when treated early in childhood. For parents who choose whole genome sequencing for their children, they will never need to test again because it reads nearly all of your child’s DNA.
This article is for informational purposes only and is not a substitute for professional medical advice. If you have concerns about your child’s health, speak with your pediatrician.