NCSL GeneticsBrief

Treatment for Disorders Identified Through Newborn Screening

By Alissa Johnson and Jennifer Ayer

Newborn screening programs screen an estimated 4.1 million infants per year and are well established public health programs that include six basic functions (education, screening, follow-up, confirmatory testing and diagnosis, treatment/management, outcome assessment, and system quality assurance.). The success of these programs hinges on the careful and coordinated partnerships between two sectors of the health system in each state--health care delivery and public health. This includes coordination between the hospitals from which most specimens are received, the public health laboratory, the infant's pediatrician or primary care health professional to whom positive results are reported, and pediatric sub-specialists to whom infants are referred for diagnosis and treatment. Defining the roles and responsibilities for treatment and management of newborns who screen positive and are later diagnosed with a disorder is becoming and growing concern within the context of the current expansion of state newborn screening programs.

The case of phenylketonuria (PKU) provides a good example of the issues state policymakers may face as the number of children diagnosed with metabolic or other inherited disorders through state newborn screening programs grows. According to the March of Dimes, a missing or deficient enzyme prevents children with PKU from processing phenylalanine, which is present in nearly all foods. Without proper treatment, hyperphenylalaninemia--or build up of phenylalanine (phe)--results in mental retardation or neurological damage. PKU is incurable, but its effect can be mitigated through a diet restricted in phe content. Formula that contains protein substitutes to compensate for lack of protein in a phe-free regimen is the mainstay of the PKU diet. Formula is supplemented by special low-protein foods that help meet the calorie needs of people with PKU. Although PKU was the first disorder to be included in state newborn screening programs, barriers to accessing medically necessary foods and formula to treat PKU remain.

One significant barrier is the cost of formula and medical foods. Formula, for instance, may range from 20-40 dollars a can depending on the age of the patient and may last for only a few days. In addition, the low-protein counterpart for spaghetti, for example, which normally costs about $1.19, retails for $7.50 at one on-line store that produces PKU-friendly foods, and additional shipping expenses may apply if the product is not available locally. State may pay for PKU-related nutritional products through programs such as Newborn Screening, Genetic Services, Children with Special Health Care Needs, Medicaid, the State Children's Health Insurance Program (SCHIP), and Women, Infants and Children (WIC), which receive support from various federal agencies, including the Health Resources and Services Administration (HRSA), the Centers for Medicare and Medicaid Services (CMS), and the Food and Nutrition Service (FNS). Eligibility for assistance may depend on income.

For families with private insurance, over 30 state legislatures have established some form of coverage or reimbursement requirement for PKU treatment. Statutes often require insurers to treat prescribed medical foods or formula similar to a prescription drug. However, such provisions vary according to the type of treatment covered, the amount of coverage, and period of coverage. For example, a state may require coverage of low-protein foods, metabolic formula, or both. Some states also limit the amount of mandated coverage or reimbursement with annual caps ranging form approximately $1,500 to $25,000. These caps may depend on family income and may apply only to food or formula.

In several states eligibility for benefits available through the state or private insurance also may depend on age or gender. The most common age limits are 18 or 21. These restrictions may be in keeping with initial guidelines for treatment of PKU., which did not necessarily recommend lifelong adherence to the special diet. But, according to a 2002 report by the Centers for Disease Control and Prevention (CDC), the restricted diet should be maintained for life. Maintenance of the diet is particularly important for women.

States that distinguish between genders in terms of PKU benefits--including Colorado, Delaware and Virginia--provide longer periods of coverage for women than men. Pregnancy in women with PKU, who are classified as having "maternal PKU," poses unique concerns. In a 2001 policy statement the American Academy of Pediatrics (AAP) recommended all girls and women of childbearing age with PKU should be identified and counseled about the risks of maternal PKU to the fetus. AAP likened the effects of uncontrolled maternal PKU to fetal alcohol expsore. Elevated levels of phe in a preganant woman may result in mental retardation and brain damage in her fetus, making adherence to a low-protein diet critical.

In addition to cost, other potential barriers to successful treatment of PKU include inability or unwillingness to stick to the diet (particularly during adolescence), practical constraints such as transportation issues, and lack of education and information on the part of providers and patients. Ideally, families receive appropriate counseling through the state or their health care provider upon diagnosis of PKU, but determining the state's role in following up with children diagnosed with PKU and other metabolic and genetic disorders through newborn screening is an ongoing challenge. But failure to ensure that individuals with PKU continue to follow the special diet may not only cost them personally in terms of their health but may also cost states with respect to the additional care needed as a result. In particular, the cost of treatment may be relatively low as compared to the cost of caring for a child born developmentally disabled due to a motnher's failure or inability to eat appropriately.

Many of the barriers to treatment of PKU such as access and cost are universal to the treatment of any chronic disorder. Medical technologies, which may provide hope for new treatment at a considerable expense, may magnify these concerns. As technology drives states to expand programs and screen for more conditions, legislators will face decisions about funding or requiring coverage for their treatment and management.

Many of the barriers to treatment of PKU such as access and cost are universal to the treatment of any chronic disorder. Medical technologies, which may provide hope for new treatments at a considerable expense, may magnify these concerns. As technology drives states to expand programs and screen for more conditions, legislators will decisions about funding or requiring coverage for their treatment and management.

Selected References

Centers for Disease Control and Prevention, Morbidity and Mortality Weekly Report (MMWR), February 15, 2002/51(06); 117-120.

National PKU News, http://www.pkunews.org

March of Dimes, www.marchofdimes.com

©February 2006