Newborn Screening Four Facts Policymakers Need to Know Newborn Screening Some Babies Won’t Live Without it

Zachary Wyvill APHL-CDC Newborn Screening and Symposium parent/patient panel.

Two boys — Zachary Black and Zachary on a special, low-protein diet and is a happy, Wyvill — were born in Northern California one healthy child. month and 60 miles apart. Zachary Black was Zachary Wyvill also has GA1, but was not tested for the rare glutaric tested in the pilot study. It took physicians acidemia Type 1 (GA1) in a pilot program run by months (at considerable cost) to diagnose the the state laboratory to determine disorder; long enough for toxic levels of undi- if the disorder should be added to California’s gested protein to accumulate in his body, caus- routine newborn screening test panel. ing severe neurological damage. Zachary Wyvill He tested positive for GA1, which renders may never be able to walk, talk or even feed the body unable to digest most proteins in himself. His family’s health insurance is nearly food. Zachary Black was immediately placed maxed out.

How important is newborn screening? Ask the Wyvill family. What should policymakers know about newborn screening? Read on.

1 Association of Public Health Laboratories Newborn screening touches nearly Fact 1 every baby born in the .

Anyone born in the United States in the late newborn screening. Yet, each year, more than 1960s or later — including, perhaps, you or 12,000 US babies are.ii Without the early inter- your children — almost certainly was pricked ventions enabled by newborn screening, many in the heel by a nurse or , who of these youngsters would suffer lifelong disabili- collected a few drops of to send to ties or early death. And their families would be a laboratory for newborn screening. Trained forced to undergo costly diagnostic odysseys to scientists tested the blood for potentially dev- figure out why their babies are failing to thrive . . . astating heritable and congenital conditions or why they died so tragically young. (i.e., conditions present at birth) that are Virtually all (>98%) of the roughly 4 million treatable, but difficult or impossible to detect babies born in the US each year receive without deliberate testing. newborn screening.iii And virtually all new- In addition to blood-based testing, between born screening is done under the authority of about 2000 and 2003, today all states offer state governments and is automatic unless newborn hearing screening to all or select parents opt out in accordance with state newborn populations.i Pre-discharge screen- laws.1 The vast majority of screening tests ing for critical congenital heart disease—the are performed in a state public health labora- latest disorder recommended for newborn tory or in a partner laboratory under state screening—has recently begun. public health laboratory oversight.2 Hopefully, no one in your family has been diagnosed with a condition detectable by

“No child should die or suffer disabilities if a simple blood spot can prevent it.” Robert Guthrie, PhD, MD, 1916-1995 Developer of the first newborn screening test (the Guthrie test for PKU)

1 Physicians or parents can also order newborn screening tests directly from private laboratories, but this testing accounts for only a minute portion of all newborn screening. 2 Only Nebraska, Mississippi and Washington, DC, contract directly with a commercial laboratory for newborn screening services, without state public health laboratory oversight. These jurisdictions account for about 3% of US births. In addition, hearing and heart screening are performed at birthing facilities and are usually not associated with laboratory testing.

Newborn screening: Four Facts Policymakers Need to Know 2 Newborn screening is Fact 2 a public health success story.

Newborn screening has been called “a triumph treated with may of the 20th century public health system.”iv have unstoppable seizures, , blind- More recent newborn screening innovations are ness and movement difficulties. Yet, babies with considered among the greatest public health these disorders often appear healthy at birth. achievements of the early 21st century.v Perhaps the most painful burden for fami- In short, newborn screening has been a lies whose children suffer the consequences of spectacular success because it saves lives, untreated early disease is knowing that adverse prevents disability and saves money. outcomes could have been prevented. For PKU, untreated infants with newborn screen- the main treatment is a low-protein diet. For ing conditions, and their families, may suffer MCADD—regular feeding. And for biotinidase enormous burdens. Untreated infants with PKU, deficiency—supplements of the vitamin biotin. for example, will have an average IQ below 40, a By enabling prompt treatment, newborn severe intellectual deficiency. Untreated infants screening keeps rare congenital conditions from with MCADD may suffer sudden death. And un- stealing children’s lives.

3 Association of Public Health Laboratories Table 1. Most Common Newborn Screening Disorders in the United States

Disorder Estimated # of Main Problem Potential Outcome Main Treatment US Cases Annually* Without Timely Inter- vention

Hearing loss 5,073 Inner ear malforma- Delayed language Surgery, medications, ear tion or injury due to acquisition, decreased tubes, speech therapy, birth defects, genetic psychosocial well- cochlear implant or sign disorders, exposure to being, behavior language instruction, infections or toxicants problems, lower edu- depending on cause in the womb cational attainment

Primary congenital 2,156 Insufficient Severe, permanent Thyroid hormone supple- hypothyroidism hormone mentation

Sickle cell disease 1,775 Defective red blood Delayed growth and Folic acid supplementa- (Including sickle cell cells carry less oxygen puberty; episodes of tion, high fluid intake, anemia, sickle C to the body and clog severe musculoskel- monitoring for complica- disease, blood vessels etal pain; leg ulcers; tions. [ was S/β thalassemia) jaundice; possible once universally fatal. blindness in older chil- With early treatment, it dren and adults; pos- is considered a chronic sible organ damage illness.]

Cystic fibrosis (includ- 1,248 Inherited defect in the Lung and digestive Chest physical therapy, ing non-classical) glands that secrete problems (as excess medications to thin mucus and sweat mucus blocks airways mucus and dilate airways, and pancreatic ducts); oral pancreatic , early death from respi- vitamin supplements. ratory failure [Treatment can prolong life into the 50s or longer.]

MCADD 239 Inability to use fat Sudden death Keeping baby from fasting (Medium-chain acyl- for energy longer than overnight CoA dehydrogenase deficiency)

Classical galactose- 224 Inability to metabo- Liver failure, Galactose-restricted diet mia, plus variant lize the milk sugar brain damage galactose

PKU 215 Inability to metabolize Severe, permanent Low-protein diet () and , an intellectual disabil- clinically significant in most ity; seizures; stunted variants protein growth

Congenital adrenal 202 Abnormal produc- Problems range from Hormone replacement hyperplasia tion of adrenal gland mild to severe, pos- therapy (excluding non 21 hormones (typically sibly including shorter hydroxylase deficiency) insufficient cortisol height than parents, and excess androgen) early signs of puberty, low blood pressure, low blood sugar, altered development of external genitalia, infertility

* Based on number of infants diagnosed with hearing loss in 2009 per CDC Early Hearing Detection and Intervention Program annual data (available at http://www.cdc.gov/ ncbddd/hearingloss/ehdi-data2009.html) and incidence of other conditions in four state newborn screening programs (CA, MA, NC, WI) during 2001–2006 (reported in MMWR 2008;57:1012-5). Source: CDC. CDC grand rounds. Newborn screening and improved outcomes. MMWR 2012;61(21);390-393.

Newborn screening: Four Facts Policymakers Need to Know 4 “Economic benefits from early detection of congeni- tal hypothyroidism alone more than cover the cost of the entire newborn screening infrastructure.” Scott Grosse, PhD Research Economist National Center on Birth Defects & Developmental Disabilities, Centers for Disease Control and Prevention

Over and over again, studies have found that • Nationwide newborn screening for congenital newborn screening not only transforms lives, hypothyroidism, which occurs in about 1 in but also saves money. Here are three compel- 2,000 US births, saves an estimated $400 ling examples. million/year or more by preventing the IQ loss • The Medicaid cost of treating a baby that may occur without early (and inexpen- with SCID—a severe immunodeficiency sive) thyroid hormone supplementation.viii,3 that is uniformly fatal in the first two This savings is 20 times the cost of laboratory years of life without immune reconsti- screening for congenital hypothyroidism.ix,x tution—can easily top $2 million.vi Yet, • The benefits of if infants are diagnosed early, before (MS/MS) screening of 540,000 California developing life-threatening infections newborns for a panel of more than 40 from exposure to live childhood vaccines conditions exceeds annual program costs or common germs, they can be cured by $47.1 million.xi Or, stated another way, with a bone marrow transplant. The every dollar California spends on MS/MS cost of the transplant? Just $100,000 screening yields a benefit of $9.32, includ- if performed within the first 3.5 months ing medical costs avoided and the value of of life.vii lives saved.

3 The $400 million/year savings includes the sum of benefits of preventing disability (e.g., averting the need for special education and other services) and the increased productivity gained by averting mild IQ losses among those in the normal range of IQ scores.

5 Association of Public Health Laboratories When 1 is the Biggest Number Everett’s Story

Korissa Olson is a model mom. don’t think about newborn screen- later, Korissa said, “My pediatri- She feeds her family organic food, ing when you’re pregnant. I just filed cian sat me down right away and exercises every day and performs in [the information] in the back of my showed me this paper from the a professional gospel singing group. head. I really didn’t have time to Minnesota Department of Health Her son, Everett, was born April research it, and there are no known with the word on it. 14, 2008, in Minneapolis’ North genetic disorders in my family.” She told me Everett had tested Memorial Hospital. It was, said But the nurse came back a positive for this disorder.” Korissa, “a great pregnancy” and “a second time. And then a third. “She The pediatrician advised further perfect textbook delivery,” with no gave me a brochure,” said Korissa, testing to confirm the result. In drugs, no complications. “and I read it, and I realized that the meantime, she said, Korissa “I felt great, and Everett was this is not an invasive test. They’re should stop breastfeeding, since beautiful,” she said. not putting anything into my baby’s babies with galactosemia lack the But when a nurse asked Korissa body, they’re just taking out a few enzymes needed to digest the milk about newborn screening, she drops of blood.” She said, “I have a sugar galactose. said, no. strong belief in God, and I just knew “I felt very strongly about breast- Someone had handed her a flier right then and there that I was feeding,” said Korissa, “so it was after church one day, discouraging gonna have this test.” really, really hard. Then I read cata- the practice. “I’m an educated per- Soon afterward, Korissa and racts, brain damage, liver failure, son,” said Korissa. “I was reading up her husband took Everett home, a learning disabilities. I was over- on vaccines, on food for newborns, seemingly healthy baby boy. But at whelmed. I thought surely it was a on caring for a newborn. But you his first health check-up four days false positive; he looked so healthy.”

Newborn screening: Four Facts Policymakers Need to Know 6 Korissa went home and did her said Korissa, “saved our little Ever- said his mom, become a “spokes- own research. “I realized how seri- ett’s life.” tot” for newborn screening, appear- ous it was,” she said, “so I did stop everett was discharged three ing in Parents magazine, on the breastfeeding.” The very same day, days later; and two weeks later, cover of Minnesota Medicine and Everett got sick. Korissa and her husband received with Korissa at legislative hearings. “He became instantly lethargic, confirmation that their son had the Other than minor speech problems his eyes rolled to the back of his most severe form of galactosemia. and a galactose-restricted diet, he head. I called the pediatrician and “It was hard at first,” said Ko- looks and acts “very normal.” said, ‘I just can’t wake him up.’” rissa, “but I think we were very, very Said Korissa, “Galactosemia only everett was admitted to the blessed. Untreated galactosemia affects about one in 60,000 babies. neonatal intensive care unit has a 75% mortality rate, but we You think, that’s not going to happen with severe jaundice, a problem had an early diagnosis. I’ve actually to me. But when your baby is the routinely treated by giving babies called the nurses back and thanked one, one is the biggest number.” fluids, including breast milk. But them over and over again [for en- She said, “I wake up most because Everett was suspected of couraging newborn screening].” mornings thankful that Everett had having galactosemia, doctors knew everett, for his part, is now a that test. My life — and Everett’s breast milk could be fatal. “sparkly” four-year-old who loves life — would have been so very dif- The newborn screening result, people and loves to play. He has, ferent without it.” ■

In 2008, the Minnesota Public Health Laboratory Division screened 71,636 infants. Eight were diagnosed with some form of galactosemia, including Everett.

7 Association of Public Health Laboratories Newborn screening Fact 3 is more than a test.

Public health laboratory testing is a critical, core patient, family and society. component of newborn screening. Yet, labora- 6. Education: Education of the parents, pri- tory testing — and pre-discharge hearing and mary care provider, legislators, newborn heart screening — are just one piece of a broader screening personnel (lab and follow-up) public health system working for families. and stakeholders. every state newborn screening program has In addition, the federal government sup- six essential parts.xii ports state newborn screening programs in 1. Screening: Collection of newborn blood several important ways. specimens and testing to identify infants The Centers for Disease Control and Preven- with potential markers of congenital condi- tion (CDC) is the only comprehensive source of tions (e.g., elevated or depressed levels of quality assurance materials for dried blood spot certain body chemicals) and point-of-care testing in the United States and the world. It as- hearing and heart screening. Each state sures the quality of the special filter paper used decides what conditions to include in its to collect blood spots; runs a voluntary newborn screening test panel. program (operated jointly with the Association 2. Follow-up: Rapid location and referral of of Public Health Laboratories) through which screen-positive infants; that is, infants with newborn screening laboratories can evaluate test results outside a specified range. their testing proficiency; and offers screening 3. Diagnosis: Medical evaluation and addition- laboratories testing guidelines, trouble-shooting al testing of screen-positive infants to make assistance and the reference materials needed a definitive diagnosis or determine that the to calibrate testing instruments and carry out screening result was a false-positive. other quality control activities. The agency also 4. Management: Rapid planning and implemen- conducts and funds newborn screening research, tation of long-term therapy for infants diag- evaluations and pilot studies, and, with the nosed with a newborn screening disorder. Association of Public Health Laboratories, is 5. Evaluation: Assessment of the previous four helping newborn screening laboratories plan for activities to identify opportunities for quality continuation of vital testing services during large- improvement and gauge benefits to the scale natural disasters and other emergencies.

Newborn screening: Four Facts Policymakers Need to Know 8 The US Health Resources and Services hance states’ genetics and newborn screening Administration (HRSA) was instrumental in the services and to improve newborn screening edu- development of the uniform newborn screening cation, coordinated follow-up care and long-term test panel recommended for all states. Since surveillance to document outcomes and enable passage of the Newborn Screening Saves Lives researchers to assess the benefits of screening. Act of 2008,xiii the agency has had a renewed ultimately, as shown in Table 2, newborn mandate to strengthen the newborn screening screening depends on a host of partners, work- infrastructure. It funds several activities to en- ing together at every level of society.

Table 2. Newborn Screening Partners and Their Roles

Newborn Screening Partner Role

Federal and state legislators Assure adequate funding and legal authority to maintain the newborn screening infrastructure and carry out newborn screening activities

Maternal and pediatric healthcare providers Educate parents about newborn screening before and, if necessary, inform them of out-of-range screening results

Families Make informed decisions about newborn screening and provide input to improve the newborn screening system

Scientists in public health laboratories and Choose appropriate test methods, validate and implement new screening partner screening laboratories technologies, assure high-quality testing that detects infants with congenital (In most states that contract with a commercial conditions while minimizing false positive results, communicate screening laboratory for newborn screening, the state results to follow-up personnel, and translate advances in genetics and genomics public health laboratory is ultimately responsible into new screening protocols (either improved testing strategies to replace those for the quality of testing.) now in use or tests for conditions under consideration for addition to the state testing panel)

State newborn screening Assure that all infants with out-of-range screening results receive diagnostic program administrators testing and immediate follow-up care, if needed; provide policy guidance; pro- vide education/outreach to families, healthcare providers and others

Medical specialists Diagnose infants with newborn screening conditions and co-manage their care with primary care providers

State maternal and child health programs Link families with high-quality medical management and care coordination after newborn screening conditions are diagnosed; track clinical outcomes

Federal Agencies (CDC, HRSA) Provide technical assistance and guidance to state newborn screening programs; collect and analyze newborn screening data; assure availability of comprehensive consumer and professional resources

Professional associations (e.g., Association of Educate the public and professionals about newborn screening; promote the Public Health Laboratories, American College of development and diffusion of newborn screening innovations; act as liaisons and Genomics) between professionals and key partners

Family advocates and advocacy groups (e.g., Raise awareness of newborn screening; assist families; advocate for improve- Save Babies Through Screening Foundation) ments in the newborn screening system

Research funders (e.g., National Institutes of Assure continual improvements in newborn screening technology and practices Health) and researchers at federal agencies, public health laboratories, universities, newborn screening test kit manufacturers, private research institutes

9 Association of Public Health Laboratories Thanks to Newborn Screening, Jazmin Can Dance

Adaly Sanchez and her husband went home two days later. But away,” said her mamá. “She took a Victor were thrilled to welcome their soon thereafter, Adaly received little bit [of] time.” first child in 2010, a beautiful baby a call from her pediatrician with Jazmin was immediately referred girl named Jazmin. life-changing news: Jazmin had to the Child Development and Jazmin, said Adaly, was born in tested positive for analytes associ- Rehabilitation Center at Oregon Silverton, Oregon, one day after her ated with Health & Science University due date: “I went to the hospital (MMA), an inherited disorder (OHSU), where specialists could early in the morning because I that renders the body unable to provide advanced care. At OHSU, started with the pain. They sent process certain proteins and fats. the first-time parents met with a me home. Then I went back in the Without treatment, MMA would physician who examined Jazmin evening. I didn’t have ten minutes likely cause intellectual disability, and initiated follow-up tests that at the hospital kidney disease, pancreatitis, coma confirmed the newborn screening and she was out or even death. result. They also met with a nutri- already.” Adaly took Jazmin back to her tionist, who explained that Jazmin A skinny pediatric clinic, where providers would need to follow a special and purplish asked a lot of questions. “They low-protein diet to stay healthy. newborn with touched her skin and weighed her Healthcare providers explained peach fuzz hair, and asked how she was eating, that MMA is a recessive disorder, Jazmin weighed pooping, peeing, sleeping,” said meaning that a defective gene 5 pounds and Adaly. The answers were not out must be passed onto the baby 12 ounces. of the ordinary; Jazmin had been from each parent. She and Adaly doing well. “She didn’t get sick right “We didn’t know [we were

Newborn screening: Four Facts Policymakers Need to Know 10 carriers],” said Adaly. “I didn’t lot of hair and “likes a lot to dance.” ing, Adaly said, “I think it is really know exactly what was MMA. It was When Jazmin was just a few good. If I didn’t have that, I wouldn’t a big surprise for us; she was our months old, Adaly found out she know Jazmin was sick. I think I first baby. I was scared. They told was pregnant again, and worried would have given her things [to eat] me she was going to take longer to about the 25% chance her second that would have made her really, learn things, to walk, to talk.” child might have MMA too. The really sick.” She said, “I hope they In fact, however, Jazmin has Oregon State Public Health Labora- never stop doing that, because that exceeded all expectations. She tory—which performs newborn is actually a lot helpful. I think it did began crawling and talking at nine screening for all Oregon babies—ex- save her life.” months and started walking at one pedited the test results, which were The Oregon State Public Health year. “She has been doing good,” 100% normal. Laboratory, which administers said Adaly, who gives Jazmin pre- At the moment, Jazmin is not the Northwest Regional Newborn scribed dietary supplements and entirely happy with her new sister. Screening Program, screens about regularly calls providers at OHSU to “She doesn’t like when her dad 167,000 babies each year, includ- verify that new food items are okay carries the new baby, and she cries ing about 45,500 babies born in for her daughter to eat. and cries and cries,” said Adaly. Oregon and 121,500 babies born in Today, Adaly said, Jazmin has a With regard to newborn screen- five other states.■

In 2010, 375 infants screened by the Oregon State Public Health Laboratory were diagnosed with a condition initially detected through newborn screening. Six babies, including Jazmin, were diagnosed with MMA.

11 Association of Public Health Laboratories Newborn Screening is a dynamic Fact 4 program ­— Evolving, Improving

The US newborn screening system has been In 2002, some states were screening for just protecting infants for more than 50 years, ever four conditions, while others were screening since the development of the first screening test for up to 36; by April 2011, all states reported and the dried blood spot collection system that screening for at least 26 conditions on the rec- is still in use today. That first test, the Guthrie ommended uniform screening panel.xiv,xv test for PKU, was widely implemented in the This widespread newborn screening expan- 1960s. Many states added a test for congenital sion has led to earlier life-saving treatment hypothyroidism in the 1970s, and, by the 1990s, and intervention for at least 3,400 additional some states were screening for as many as nine newborns each year with selected genetic and or ten conditions (counting sickle cell variants as endocrine conditions.xvi, xvii one disorder). Today, the newborn screening system contin- Tandem mass spectrometry has revolution- ues to evolve, with many challenging opportuni- ized the field, beginning in the late 1990s, and ties ahead. now enabling testing for more than 40 metabolic The initial recommended uniform screening conditions with just one assay and one dried panel contained 29 core conditions.xviii It has blood spot. since grown to 31, with the addition of SCID in In 2006, the Secretary of the US Depart- 2010 and critical congenital heart disease in ment of Health and Human Services approved 2011.xix As advancing technologies allow for the a uniform newborn screening panel, listing detection of markers for more conditions, and tests recommended for all state programs. The advocacy increases, there will be continued new federal guidance spurred the adoption of pressure for state newborn screening programs tandem mass spectrometry across the country. to expand their panel of screening disorders.4

4 Anyone may nominate a condition for consideration for inclusion in the recommended uniform screening panel. All nominated conditions are reviewed by the US Depart- ment of Health and Human Services (DHHS), Secretary’s Advisory Committee on Heritable conditions in Newborns and Children, following a rigorous, evidence-based process. Final decisions are made by the DHHS secretary.

Newborn screening: Four Facts Policymakers Need to Know 12 Most states charge fees for screening — ranging from about $14.00 to $140.00 in 2007.xx But because fees rarely cover program costs, they are often supplemented with other state or federal funds. As these other resources decline, it be- comes more difficult to support existing newborn screening activities, much less new initiatives. In addition to expanded blood-based testing, state newborn screening programs face a number of other challenges: • Integrating point-of-care tests (e.g., pulse Public Health Laboratories: oximetry for screening of critical congenital Advancing Newborn Screening heart disease) into NBS programs. Through Technological Innovation • Addressing genomics challenges, such as the interpretation of DNA test results. Public health laboratories are continually improving newborn screening services and • Developing policies and an infrastructure to looking for ways to contain costs. They are: facilitate the use of leftover newborn screen- • Expanding the use of automation; ing blood specimens — so-called residual • Assessing, with partners, the feasibility and dried blood spots — for valuable public health benefits of adding select conditions to state research. newborn screening test panels; • Expanding DNA testing; • Addressing serious shortages of medical ex- • Reducing the rate of false positive test re- perts qualified to manage the care of infants sults through the use of tiered testing strate- with rare newborn screening conditions. gies using both biochemical and molecular • Addressing the lack of public understanding assays; • Examining the use of single tests to detect of newborn screening. multiple newborn screening conditions. • Improving and standardizing long-term follow- up activities to ensure the best possible out- comes for individuals. For example, there is a need for smoother transitions from pediatric to adult care and also a need for uniform data standards to track clinical outcomes and improve the quality of care.

13 Association of Public Health Laboratories Excerpt from My PKU Life Watch the video at bit.ly/kevin_pku

My name is Kevin Alexander. I’m I’ve traveled the world shooting been in an institution, that I would 31 years old, and I have PKU. PKU videos; I’ve traveled the world doing have become mentally retarded. is a very rare genetic disorder in what I love to do. When I think about the fact that my which the body cannot properly everything I love about life has life could have been so different, break down protein. I’ve had this been dependent upon my diagnosis it’s a wake-up call to be thankful, my entire life. It’s become my with PKU — the fact that it was honestly. But I’ve had a really good normal. . . I’ve never had a steak, I caught. I didn’t choose to have life. . . 40 or 50 years ago, I would don’t eat chicken, bacon. I don’t eat PKU. I didn’t choose the family not have been able to do any of cheese, I don’t drink milk. This is I was born into, I didn’t choose this. my normal, this is my life. It’s all I’ve the country that I was born into, I We have some challenges today ever known. But, I’ve had a really didn’t choose the time that I was in our PKU community. Please know good life. born. But all of those factors just that the quality of life for everyone I’ve spent the last ten years in aligned at the right time for me with this disease depends upon the professional video production. to have a productive and healthy decisions being made today. I’ve been a news videographer, a life. Had I been born 30 years I’m just asking on behalf of corporate videographer, a wed- [earlier], had I been born into a 20,000 [Americans living with PKU] ding videographer. . . . I covered different family, had I been born who don’t have a very powerful Hurricane Katrina; I was down in in a different country . . . had I not voice right now, please become New Orleans just five days after the been diagnosed, had I not always educated on this issue. Please storm. I have interviewed numerous been on diet, had I not always do whatever you can to help us, celebrities. I’ve interviewed sena- been on my [medical] formula, it because we would greatly, greatly tors. I’ve interviewed governors. . . is undeniable that I would have appreciate it. ■

Newborn screening: Four Facts Policymakers Need to Know 14 REFERENCES i Green DR, Gaffney M, Devine O, Grosse SD. Determining xii Pass KA, Lane PA, Elsas LJ, et al. US newborn screen- the effect of newborn hearing screening legislation: an ing system guidelines II: follow-up of children, diagnosis, analysis of state hearing screening rates. Public Health management, and evaluation. Statement of the Council Reports 2007;122:198-205. of Regional Networks for Genetic Services (CORN). Pediat- ii CDC. CDC grand rounds. Newborn screening and im- rics 2000;137(4 Suppl):S1-46. proved outcomes. Morbidity and Mortality Weekly Report xiii Public Law No. 110-204. 2012;61(21);390-393. xiv US General Accounting Office. (2003, March) Newborn iii Ibid. Screening. Characteristics of State Programs. (Publication iv Tarini BA. The current revolution in newborn screening. No. GAO-03-449). Accessed 19 June 2012. Available at New technology, old controversies, Archives of http://www.gao.gov/new.items/d03449.pdf. & Adolescent Medicine 2007;161(8):767-772. xv CDC. Impact of expanded newborn screening --- United v CDC. Ten great public health achievements --- United States, 2006. Morbidity and Mortality Weekly Report States, 2001 – 2010. Morbidity and Mortality Weekly 2008;57(37):1012-1015. Report 2011;60(19):619-623. xvi Ibid. vi Buckley RH. The long quest for neonatal screening for xvii CDC. Using tandem mass spectrometry for metabolic dis- severe combined immunodeficiency. Journal of Allergy ease screening among newborns. Morbidity and Mortality and Clinical 2012;129:597-604. Weekly Report 2001;50(RR03):1-22. vii Ibid. xviii American College of Medical Genetics, Newborn Screen- viii Grosse S. (2011, November) New estimates of the ing Working Group. Newborn screening: toward a uniform economic costs of newborn screening for congenital hypo- screening panel and system. Genetics in Medicine thyroidism in the US. Presentation at the APHL Newborn 2006;8(suppl):1S-252S. Screening & Genetics Testing Symposium, San Diego, xix Secretary’s Advisory Committee on Heritable Disorders in California. Newborns and Children. Recommended Uniform Screen- ix United States General Accounting Office. Newborn ing Panel of the SACHDNC. Accessed 19 June 2012. Screening: Characteristics of State Programs. 2003. Available at http://www.hrsa.gov/advisorycommittees/ mchbadvisory/heritabledisorders/recommendedpanel/. x PriceWaterhouseCoopers. Newborn Screening Programs: An Overview of Cost and Financing. 2002. xx Therrell BL, Adams J. Newborn screening in North America. Journal of Inherited Metabolic Disorders xi Feuchtbaum L, Cunningham G. Economic evaluation of 2007;30:447-465. tandem mass spectrometry screening in California. Pedi- atrics 2006;117:280-286.

More Information: Newborn Screening Program, Association of Public Health Laboratories | http://bit.ly/PByUYu Newborn Screening, Centers for Disease Control and Prevention | http://1.usa.gov/NyCCp9 Baby’s First Test, facts about newborn screening | http://bit.ly/Ugnvz1 One Foot at a Time, video explaining newborn screening process | http://bit.ly/PBzzt8 ______

This brochure was 100% financed by federal funds. The total amount of funding received for the Newborn Screening Program is $1.2 million. This brochure was supported by Co- operative Agreement # U60HM000803 from CDC. Its contents are solely the responsibil- ity of the authors and do not necessarily represent the official views of CDC.

Funding support for this cooperative agreement was received from: National Center for HIV, Viral Hepatitis, STDs and TB Prevention (PS), Coordinating Office for Terrorism Preparedness and Emergency Response (CTPER), Laboratory Science, Policy and Practice Program Office (LSPPPO) (LS), Coordinating Office of Global Health (GH), Public 8515 Georgia Avenue, Suite 700 Health Informatics and Technology Program Office (PHITPO) (HK), National Center for Silver Spring, MD 20910 Immunization and Respiratory Diseases (IP), National Center for Environmental Health (240)485-2745 (NCEH), National Center for Zoonotic, Vector-borne, and Enteric Diseases (CK), Centers www.aphl.org for Disease Control and Prevention (CDC)