Newborn Screening for Genetic and Endocrine Disorders (Screening, Medical Foods, and Treatment)
Evidence Statement
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Updated 9/27/11
Evidence StatementClinical Preventive Service RecommendationsU.S. Preventive Services Task Force RecommendationThe U.S. Preventive Services Task Force (USPSTF) recommends screening for phenylketonuria (PKU) in newborns.1Evidence Rating: A (Strongly Recommended/Good Evidence) The USPSTF found good evidence that early detection and treatment of PKU by neonatal screening improved outcomes in affected children and that the benefits outweighed the harms of screening.1 The U.S. Preventive Services Task Force (USPSTF) recommends screening for congenital hypothyroidism (CH) in newborns.2 Evidence Rating: A (Strongly Recommended/Good Evidence) The USPSTF concludes there is high certainty that the net benefit of screening for congenital hypothyroidism in newborns is substantial.2 The U.S. Preventive Services Task Force (USPSTF) recommends screening for sickle cell disease in newborns.3 Evidence Rating: A (Strongly Recommend/Good Evidence) The USPSTF concludes that there is good evidence that early detection of sickle cell anemia followed by prophylaxis substantially reduces the risk of serious infections during the first few years of life. The USPSTF concludes that there is high certainty that the net benefit of screening for sickle cell disease in newborns is substantial.3 Value of PreventionEconomic Burden of Condition/DiseaseIn the absence of screening and treatment, almost all children with phenylketonuria (PKU) (about 200 births per year) would develop mental retardation. The average lifetime direct and indirect cost per child born with mental retardation is $1 million (in year 2003 dollars).9 This indicates a lifetime burden of at least $200 million for each birth cohort. Prior to screening, at least 1 in every 20,000 children developed mental retardation due to congenital hypothyroidism (CH).10 This indicates that CH and PKU have similar economic burdens and, when combined, cost at least $400 million per year.Sickle cell disease is a major cause of hospitalizations. During 1989 to 1993, hospitalization costs for children and adults with SCD averaged $475 million per year (in year) 1996 dollars.11 Workplace Burden of Condition/DiseaseFamily caregivers for children with disabling sequelae such as mental retardation or painful sickle cell crises are liable to miss days of work, cut back hours, or leave the workforce altogether. Mothers of children with disabling conditions are estimated to lose an average of approximately 5 hours of work per week, or 250 hours per year.12 Assuming an hourly cost between $12 and $20 (including fringe benefits), that implies an economic cost from $3,000 to $5,000 per child, per year.12Economic Benefit of Preventive InterventionScreening for two disorders, phenylketonuria (PKU) and congenital hypothyroidism (CH), has been demonstrated to be cost-saving to public payers, with the averted costs of care exceeding the costs of providing screening and diagnostic services and treatment.13Estimated Cost of Preventive InterventionThe cost of newborn screening for genetic and endocrine disorders depends on the conditions tested for, the screening instruments used, the number of specimens tested, and the type of follow-up conducted.14A study by the General Accountability Office (GAO) concluded that, in 2001, state newborn screening programs spent over $120 million. Individual state's expenditures range from $87,000 to about $27 million.1 All except 5 states charge a fee to birthing centers or other providers to cover the cost of providing laboratory screening and, to a varying extent, follow-up services. Some states also use the fee to subsidize the costs of providing specialist services and/or medical foods. These fees vary from $10 to over $100 per infant.16 Estimated Cost of TreatmentChildren with phenylketonuria (PKU) require treatment from specialized metabolic disease clinics. Dietary treatment for PKU, which is recommended for life, entails special phenylalanine-free formula that is supplemented with tyrosine and medical foods. The cost for one year of special formula, generally the largest component of treatment costs, ranges from $3,000-$5,000.17 In contrast, congenital hypothyroidism (CH) can be treated by primary care providers using inexpensive thyroid hormone medications.Children with sickle cell disease (SCD) may be prescribed antibiotics as prophylaxis against infections, and vaccination against selected bacterial infections may also be needed. Although many children with SCD are treated by primary care providers, outcomes such as survival are improved among children who receive care from a comprehensive SCD center.18 Federally-insured children with SCD in 1992-1993 had mean expenditures 9 times higher than other similarly insured children.19 Most of the costs were associated with hospital and emergency department admissions, although optimal pain management has been shown to reduce those costs substantially.20 New interventions such as hydroxyurea, transfusions, and bone marrow transplantation offer promise in the prevention of painful crises, morbidity, disability, and mortality but, those treatments require significant expertise and specialized clinical experience to be utilized appropriately.21 Cost-Effectiveness and/or Cost-Benefit Analysis of Preventive InterventionThe cost-effectiveness of newborn screening is well established. In particular, screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) is cost-saving, with the averted costs of care exceeding the costs of providing screening, diagnostic services, and treatment.13 Screening for other disorders is generally cost-effective, if not cost-saving. For example, one analysis of screening for sickle cell disease (SCD) concluded that screening all newborns for SCD results in a cost of $10,000 per discounted life year saved.22 Another analysis of newborn screening for medium chain acyl-CoA dehydrogenase (MCAD) deficiency found that the cost per quality-adjusted life year (QALY) is likely less than $30,000.23Condition/Disease Specific InformationEpidemiology of Condition/DiseaseAll states require that providers collect dried blood spot specimens from infants soon after birth and send them to be tested at an approved screening laboratory for a panel of disorders specified by the state. All states require screening for a minimum of four disorders: phenylketonuria (PKU), congenital hypothyroidism (CH), galactosemia, and sickle cell disease (SCD) and other hemoglobin disorders. Other disorders that are mandated by the majority of states include congenital adrenal hyperplasia (CAH), biotinidase deficiency, and medium chain acyl-CoA dehydrogenase (MCAD) deficiency.7,8 Most states are moving to adopt the core panel of disorders recommended by the ACMG.The most common newborn genetic disorders are congenital hypothyroidism (CH), with a prevalence at birth of 1 in 2,500 newborns, and sickle cell disease (SCD), which is diagnosed in 1 in 2,600 newborns.7 The birth prevalence of phenylketonuria (PKU) in the United States is 1 in 20,000 newborns. If untreated, phenylketonuria (PKU) results in severe mental retardation in most children. Congenital hypothyroidism (CH) results in mental retardation as well as other forms of cognitive impairment and physical and behavioral problems in many untreated infants. Sickle cell disease (SCD) results in repeated bouts of severe pain, disability, and can increase susceptibility to blood-borne infections that can cause sepsis, meningitis, and death. SCD also results in frequent, painful crises. In addition, children with SCD are at risk of stroke, which can cause brain damage and cognitive impairment. Condition/Disease Risk FactorsMost disorders detected by newborn blood spot screening are genetic disorders, except for congenital hypothyroidism, an endocrine disorder which is primarily non-genetic.Preventive Intervention InformationPreventive InterventionNewborn screening allows treatment to be initiated within the first few weeks of life thereby preventing some of the complications associated with genetic and endocrine disorders.Purpose of Screening, Medical Foods, and TreatmentNewborn screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) has been a major public health success in preventing numerous cases of intellectual disability and assuring normal development of thousands of children. Newborn screening for other disorders has saved the lives of many children who would otherwise have died in early childhood.Benefits and Risks of InterventionStudies have shown that treatment for phenylketonuria (PKU) and congenital hypothyroidism (CH), if begun in the first 3 weeks and adhered to subsequently, can prevent mental retardation and assure normal cognitive functioning.24,25 Risks resulting from discontinuation or lack of adherence to treatment vary with the age of the individual and the severity of the disorder. Newborn screening for sickle cell disease (SCD), in association with parent and provider education, clinical management, and vaccine and antibiotic prophylaxis, has been shown to prevent most deaths associated with SCD in the first 3 to 4 years of life. Early identification of SCD does not prevent pain crises and strokes, and long-term outcomes are less clear.26 Treatments for other disorders that are included in some state screening panels also have benefits and risks. For example, a recent CDC report evaluated benefits and risks of screening and early treatment for cystic fibrosis.27The effectiveness of newborn screening is dependent on access to appropriate medical services and treatments, including medical foods for disorders such as PKU. Failure of payers to cover medical foods can result in serious adverse consequences, including, for example, severe intellectual disability and devastating birth defects among children born to mothers with inadequately treated PKU.28 Similarly, access to specialized, multidisciplinary treatment centers may be needed in order to minimize mortality and medical complications. The main risk of screening is false-positive results, which can lead to unnecessary testing and unneeded treatment. False-negative screening results, as well as missed cases, may lead to delays in diagnosis and treatment. Initiation, Cessation, and Interval of Screening, Medical Foods, and TreatmentScreening should be initiated upon birth, or as soon thereafter as possible, because initiation of treatment within the first few months of life may be required to prevent adverse outcomes. Some states require or recommend the collection of another blood spot specimen between 1 and 4 weeks of age. Families adopting children from other countries should consult their child's healthcare provider.Medical foods and preventive treatment should be provided as medically necessary. Intervention ProcessA variety of types of equipment, reagents, and protocols are used to screen newborns. All newborn screening laboratories are CLIA-certified, use approved technologies, and participate in a rigorous proficiency testing and quality assurance program maintained by CDC in collaboration with the Association of Public Health Laboratories.Children with positive screening test results need to be followed up with further testing. For disorders for which early treatment is urgent, treatment may be initiated based on presumptive positive results pending final confirmation. Treatment InformationChildren with genetic and endocrine disorders may require one or more of the following:
Strength of Evidence for the Clinical Preventive ServiceThe level of evidence supporting the recommendations contained in this section is described below.Recommended Guidance: Summary Plan Description Language:Newborn Screening for Genetic and Endocrine Disorders (Screening)Covered Screening MethodsNewborn blood spot screening is a covered benefit. Screening is provided for the following conditions: phenylketonuria (PKU), congenital hypothyroidism (CH), galactosemia, sickle cell disease (SCD) and other hemoglobin disorders, congenital adrenal hyperplasia (CAH), biotinidase deficiency, and medium chain acyl-coA dehydrogenase (MCAD) deficiency. Screening for other conditions is covered, as medically indicated.Initiation, Cessation, and IntervalNewborn screening is covered from birth through 4 months of age. Follow-up testing is covered, as medically indicated.Newborn Screening for Genetic and Endocrine Disorders (Medical Foods)Covered Medical FoodsMedical formulas and foods are covered for the purpose of preventing illness, disability, or death among beneficiaries with genetic or endocrine disorders.Initiation, Cessation, and IntervalMedical formulas and foods are covered, as medically necessary.Newborn Screening for Genetic and Endocrine Disorders (Treatment)Covered Medical FoodsMedications and other forms of treatment used to prevent illness or disability among beneficiaries with genetic or endocrine disorders are covered. Case management is a covered benefit and is provided, as medically necessary, for beneficiaries with complex disorders.Initiation, Cessation, and IntervalMedications and other forms of treatment are covered, as medically indicated.CPT Codes
Other Resources:Business Group Resource(s)CDC Resource
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