4301 Connecticut Ave NW Phone: 202.966.5557 Suite 404 www.BabysFirstTest.org Fact Sheet: Genomics Washington, DC 20008 [email protected] Fequently Asked Questions about IS MY BABY GETTING WHOLE GENOME OR DNA Sequencing and Newborn WHOLE EXOME SEQUENCING AS PART OF THE NEWBORN SCREENING TEST? No. Whole genome or whole exome sequenc- Screening ing is not part of current state newborn screening programs. To learn more about New technologies can help improve screening and diagnostic testing. your state newborn screening program, visit: Sequencing is a new technology that has gotten a lot of attention in http://babysfirsttest.org/newborn-screening/ states. recent years. This sheet of Frequently Asked Questions (FAQs) describes how this technology may be used in newborn screening. WILL WHOLE GENOME OR WHOLE EXOME SEQUENCING REPLACE NEWBORN SCREENING? WHAT IS DNA SEQUENCING? WHAT IS NEWBORN SCREENING? Not at this time. DNA sequencing is separate DNA sequencing is a laboratory method that Newborn screening is a state public health from the initial newborn screening test and looks at the DNA in a person’s cells to identify service that aims to screen all babies for is only used by some states if the initial changes in the DNA. Sequencing is usually certain serious conditions at birth. For those test is out-of-range. It is difficult to predict done on a single gene when there is concern babies with these conditions, it allows health whether this new technology will ever that a change in that gene might be causing professionals to start treatment before some replace traditional newborn screening. Keep a health problem in a person. Sometimes of the harmful effects happen. in mind that whole genome or whole exome sequencing looks at all, or larger parts, of sequencing is currently only in a research the DNA in a person, not just one gene. If Newborn screening starts with a blood test. phase. sequencing is done on specific parts of the During the blood test, which is sometimes DNA called exons, it is called “Whole Exome called a heel stick, the baby’s heel will be The National Institutes of Health (NIH) Sequencing”. When it is done on all of the pricked to collect a small sample of blood. started a research program in 2013 looking DNA, it is called “Whole Genome Sequencing”. The baby’s blood sample is then sent to at the use of whole genome or whole the lab. Other tests are done right in the exome sequencing in newborns. The NIH nursery - testing oxygen levels to look for WHAT KINDS OF INFORMATION COULD research program is taking place at four heart problems and a hearing test. For more “WHOLE GENOME” OR “WHOLE EXOME” hospitals: Rady Children’s Hospital, San information regarding newborn screening, SEQUENCING PROVIDE? Diego, CA; University of California San visit BabysFirstTest.org. This FAQ just dis- Since certain changes or misspellings in the Francisco; University of North Carolina at cusses how sequencing might be used for the sequence of letters that make up DNA may Chapel Hill; and Brigham and Women’s part of newborn screening that looks at the cause genetic conditions, genome or ex- Hospital, Boston, MA. However, (genomic baby’s blood. ome sequencing may help to identify these or genome) sequencing of newborns is changes. only done with the parents’ consent. The overall goal of these programs is to learn WHAT IS A GENOME? about the possible benefits and challenges The genome has all the genetic material of HOW IS DNA SEQUENCING USED NOW IN of genome sequencing in newborns and to a living thing, known as deoxyribonucleic NEWBORN SCREENING PROGRAMS? better understand how it can help diagnose acid, or DNA. The way DNA groups together In some states, sequencing of a specific conditions and how to communicate (genes) provides instructions for building the gene is done when a baby’s initial newborn results of genome sequencing to health proteins that make up your body. It contains screening results show something abnormal. professionals and parents. information about how a living thing will DNA sequencing in these cases is only look- look and function. It is the informational ing at one or two genes related to certain For more information on these projects, visit: blueprint for your body. conditions and NOT a newborn’s “whole http://www.nih.gov/news/health/sep2013/ genome”. nhgri-04.htm © 2018 Genetic Alliance. The Newborn Screening Clearinghouse housed on BabysFirstTest.org is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under Cooperative Agreement no. U36MC16509. This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Govern- ment..