Baby Genes, Inc. operates a CLIA-certified, diagnostic laboratory in Golden, CO using Next-Generation Sequencing (NGS). The mission at Baby Genes is to provide affordable and accessible genetic testing to those who need it and to provide health care practitioners with faster and more detailed results thereby enabling more timely intervention, if necessary. Baby Genes’ test offerings are classified as Laboratory Developed Tests (LDTs), defined by the FDA as “a type of in vitro diagnostic test that is designed, manufactured and used within a single laboratory” and have been internally validated, demonstrating a sensitivity and specificity of greater than 99%.1 Proprietary designs and engineered workflows provide the highest quality data, with the fastest turnaround times to ensure that health care providers have the information they need, when they need it.
Baby Genes offers panels for rapid confirmatory testing (based on abnormal biochemical newborn screens or presumptive positives without molecular verification), carrier testing (for family planning activities) and supplemental newborn screening (to augment standard state-based screens where (1) there is a potential for inequality based on location, (2) there are known familial variants for specific metabolic conditions or (3) more information is desired).
While the Baby Genes’ mantra is affordable and accessible, individuals looking for genetic testing must still consult with, and a have an order from, a licensed medical professional. Along with a physician-ordered test, every potential subject must understand and agree to informed consent before any specimens are processed. This is extremely important given the sophistication of the testing and the potential ramifications of results. Baby Genes provides patients and physicians access to its Genetic Counselors, Boarded Molecular and Medical Geneticists and CLIA Laboratory Director in the event there are questions regarding the results. All of these clinical specialists are involved in processing test results prior to release to the ordering physician.
While Baby Genes would like to see greater utilization of NGS during the newborn period, 99% of Baby Genes’ domestic volume currently involves rapid confirmatory testing of both newborns and older patients based on abnormal biochemical screening results. These services are not do-it-yourself (DIY) or direct-to-consumer (DTC) and require a licensed medical provider signature for processing. Baby Genes Supplemental Newborn Screening is not intended to replace state-mandated newborn screening, but to provide a direct and all inclusive genetic approach that can be coupled with biochemical results to provide greater insight to underlying genetic conditions.
Baby Genes believes every family should receive the best in newborn screening, unfettered by geographical or legislative barriers. In the U.S. there are states screening for less than 30 conditions that border states that screen for 56-57 conditions.2,3 Patients should have the option to talk to their physician about advances in newborn screening. This testing may lead to the immediate identification of a metabolic condition and can reduce the chances of morbidity and mortality. Early diagnosis will increase immediate medical intervention to prevent serious and permanent effects if left undetected or untreated.
Baby Genes technology utilizes targeted next-generation sequencing to screen 92 genes linked to 71 harmful metabolic conditions. We provide an unmatched 72-96-hour turnaround time for this panel at a very affordable price, so even if insurance doesn’t fully cover the costs, out-of-pocket impacts to families are mitigated. Our laboratory is built on the principle that rapid, cost-effective confirmatory testing should be accessible to everyone and we are committed to making that happen.
We have partnered with children’s hospitals, NICUs, U.S. state newborn screening programs and metabolic disorder clinics to optimize the speed, cost, and robustness of our test panels. Baby Genes’ typical workflow includes reflex testing due to abnormal results from biochemical assays for individuals both domestically and internationally. Frequently, our subjects are being actively treated in the NICU. Rapid results can lead to a quick diagnosis and improve the prognosis.
Baby Genes encourages physicians and parents to learn more about our process and available testing. If a parent (or prospective parent) is interested in ordering a test, we recommend he or she provide the Baby Genes Conversation Starter to their medical provider. This pamphlet will introduce the testing type to the provider and help initiate the patient-provider conversation. The physician can then follow instructions provided on our physician ordering page.
Baby Genes is available to answer any questions or concerns via email at [email protected] or via phone at (844) 213-2329.
1 “U.S. Food and Drug Administration.” Laboratory Developed Tests. Web. 25 Apr. 2016. http://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/ucm407296.htm
2 “Baby’s First Test” New Jersey. Web. 25 Apr. 2016. http://www.babysfirsttest.org/newborn-screening/states/new-jersey
3 National Newborn Screening Status Report. National Newborn Screening and Genetic Resource Center, 2014