ReadyGen is a test powered by our genetic testing partner, Sema4. This test offers families the opportunity to have screening for more than 200 conditions, including over 20+ conditions where newborn stem cells may be used in treatment today. ReadyGen also includes pharmacogenomic testing for about 40 different medications that may be prescribed to your child(ren) when they are young.
The more than 200 conditions in the ReadyGen Pediatrics test were chosen based on public health criteria. First, there needed to be a test available to detect the condition with high sensitivity. Next, we chose conditions where the health outcomes of having the conditions (with and without interventions) were known. Third, we chose conditions for the test that typically manifest in children starting under the age of 10 years old. Fourth, the conditions had to have treatment(s) available. Lastly, we chose conditions that help or change a family’s reproductive decisions for future children.
ReadyGen screens for over 200 genetic conditions that can affect children before the age of 10 years old. In the case of a positive result, early detection may allow for faster diagnosis and treatment before symptoms appear. This test includes conditions that may be treated* with medication, dietary modification, or other therapies. Examples of these conditions include:
G6PD deficiency is a common inherited condition that can cause mild-to-severe anemia when a child is exposed to fava beans, artificial blue food coloring, or foods with sulfites (a common preservative). If a family knows a child has this condition, avoidance of possible triggers may help children with the condition lead a healthy life.
Lipid storage disorders are a group of conditions do not allow the body to breakdown lipids, or fats, that we need. A subset of lipid storage disorders, called sphingolipidoses, can be identified with ReadyGen. Without treatment, this can lead to the accumulation of fat in the body and cause damage to organs, like the liver and brain. Early diagnosis of these conditions can lead to treatment including medication or stem cell transplant.
Spinal muscular atrophy (SMA) is a genetic disease that affects the nervous system. A newly-developed, FDA-approved molecular therapy may improve symptoms. Starting treatment for SMA early, before symptoms appear, may help a child gain the greatest benefit from treatment.
ReadyGen Pharmacogenomics screening is powered by our genetic testing partner, Sema4. This test offers families the opportunity to have pharmacogenomic testing for more than 40 different medications, some may be prescribed to your child(ren) when they are young. With this information, parents and providers can potentially personalize the selection of medication and dose children take.
Pharmacogenomics (PGX) is a type of genetic testing that can tell us how someone breaks down, or metabolizes, certain medications. PGX testing can be helpful as part of personalized medicine -- getting a person the best medication and dose for them. With PGX testing if we know someone breaks down a drug too quickly, they may not get the benefits of that medication and taking a higher dose or different medication may be more beneficial. On the other side, if someone breaks down a medication much slower than expected, they may be at risk for side effects of the medication because it is in the body longer. For them, too, a different medication or dose could have great benefit by having PGX available a provider can tailor what medications a person uses.
By performing PGX testing with ReadyGen, you are being proactive about your child’s health. The genetic results from PGX testing will not change, but the interpretation of those results (which medications may have an impact) may change over time. Having this information early for your child may help you, your child’s pediatrician, or other providers as your child grows to have information to help have the right and possibly most beneficial medication and dose.
The information from ReadyGen can help your family in several ways. First of all, it can identify conditions that your child may be at risk for developing, which can be benefited by interventions such as diet changes or medication. It may help parents as they may plan to have additional children and knowing the possible risks for future children to have the same condition. Additionally, it can benefit the family to know about pharmacogenomic results, so that a child and their medical providers can know what medications they may want to avoid or have a different dose.
For parents, you may find out that you are a carrier for a certain condition. Being a carrier usually does not affect your health, but it could mean if both you and your partner are carriers for the same condition, that there is a risk to have another child with the condition. Again, the conditions screened for in ReadyGen are all conditions where an intervention, such as diet changes or medication, have a clear benefit.
For your child(ren)’s pharmacogenomic testing, you may decide to also have pharmacogenomic testing. This may benefit you if there comes a time that you need medication. Having this available to your provider may help you to avoid certain medications or have different than the standard dosing, which is beneficial.
We have partnered with Sema4, a leading genetic testing company to offer your family the opportunity to have ReadyGen. We have not shared any information about your family with Sema4. If you choose to have ReadyGen for your child(ren), you will be connected with Sema4. Additionally, information shared with Sema4, including your results, will not be shared with any of our businesses.
As a biological parent, you do not have to provide a sample for your child’s ReadyGen testing. If you do provide a sample, it would only be used to help the interpretation of your child’s results. Analyzing the parents’ DNA can help confirm or rule out a positive result if a variant (or change) is detected in the child’s DNA. While a false positive is very unlikely, this simple step may help prevent unnecessary worry for you and your family.
Parental DNA is only analyzed using targeted testing if indicated by the child’s test results. Next-generation sequencing will not be performed on parental DNA, and a separate report will not be issued to the parent(s) unless specifically ordered by a physician.
Order here or follow the link in your email to the ReadyGen welcome page
Create an account with our genetic testing partner, Sema4, and answer a few questions about family health history and the child who will be screened.
Sign the consent form for testing for your child and any biological parent who is also providing a sample
An independent physician will review the information you provided to be sure that ReadyGen is appropriate for your child. The provider may reach out to ask additional questions. If your test is not approved, you will not be charged.
A DNA collection kit will be mailed directly to your home. This kit includes simple step-by-step instructions to help you with the cheek swab process.
Once you have collected your sample(s), register your kit online and send the sample(s) to the Sema4 lab with the pre-paid shipping envelope.
Sema4 sequences and analyzes your child’s DNA at their advanced CLIA-certified lab.
Once analysis is complete, an independent genetic counselor may contact you to explain the results and provide guidance on next steps. Your child(ren)’s report will also be available to you on your Sema4 account
After you receive your results, you can authorize your child(ren)’s pediatrician to receive results as well