The Science Behind GenePeeks

Operating instructions for the human body

A human body is made up of trillions of cells that contain genetic information, coded in the form of DNA sequences. The sum of the genetic information in any one person's body is their "personal genome." A personal genome is the instruction manual for the body's growth, development and functioning.

GenePeeks digitally combines your DNA and the DNA of potential donor matches to create a preview of thousands of personal genomes that your child could inherit, focusing on a panel of genes involved in childhood health and disease.

Genetics and disease

A child inherits two copies of most genes, one copy from each parent. Autosomal dominant diseases require just one of these gene copies to malfunction. Since people who carry dominant mutations are typically affected by the disorder—or have family members who are affected—a child's risk for inheriting a dominant disease mutation can usually be determined by looking closely at a biological parent's personal and family health history.

In contrast, autosomal recessive diseases require both copies of a gene to malfunction for the disease to be present. Parents of children with recessive diseases typically don't have the condition. They usually have one non-working copy of the gene and one normal copy, which is enough to ensure that their cells function well. We call these people "carriers."

Not only is it common to be a carrier with no family history of the disorder, but scientists also now have evidence that nearly all of us are silent carriers for multiple recessive diseases.1 Carrying a recessive disease mutation only puts a child at risk if both parents have a non-working copy of the same gene.

1Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, et al. (2011) Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing. Science Translational Medicine 3: 65ra4–65ra4. doi:10.1126/scitranslmed.3001756.

Preview and protect with GenePeeks

GenePeeks technology identifies recessive genetic risk by digitally previewing how a pair of genomes—yours and a donor's—would work together. Our biomedical modeling relies on scientific knowledge and tools that, for the most part, did not exist a decade ago. We use next-generation DNA sequencing to read your genome and the genomes of our donors, and then digitally pair them together. We then incorporate the latest science, including peer-reviewed, medical research findings that a particular genetic mutation is likely to cause disease. Including these findings in our analysis allows us to create a uniquely rigorous screening tool.

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