The Farmers' story

Recently, Georgia parents Laurie and Greg Farmer experienced a miracle: the celebration of their son's fifth birthday. Three short years ago, their son William Farmer, who had previously talked, played and laughed like a healthy child, came tragically close to death. His slow physical and mental deterioration reached rock bottom when he lost all ability to walk and talk, ate next to nothing, and slept 22 hours a day. The boy, who had appeared healthy until 18 months, became a mystery of the medical community. For over six months, William and his distraught parents were in and out of the hospital undergoing extensive tests. The Farmers faced a parent's ultimate nightmare. It was not until after William's second birthday that he was diagnosed with biotinidase deficiency, a treatable and curable genetic disease.

Nationally, about 3,000 to 5,000 infants are identified annually with genetic metabolic diseases, which are caused either by an abnormality in a person's genes or by the presence/absence of key proteins whose production is directed by specific genes. The three most common genetic disorders are phenylketonuria (PKU), galactosemia (a sickle-cell disorder) and congenital hypothyroidism.

If William had been born in one of the 24 states that screens newborns for biotinidase deficiency, Laurie Farmer explains, they would have avoided this medical nightmare. But William was born in Georgia, which at that time screened for eight other genetic disorders.

Screening prevalence

Newborn screening is recognized internationally as an essential preventive public health measure for the early identification of disorders that can cause severe mental retardation, chronic disability or death. Early detection, diagnosis, and treatment of certain genetic or metabolic disorders can lead to significant reductions of disabilities, diseases and death. The cost of these disorders is immense, both in economic and emotional terms. Therefore, it is crucial that newborn screening be conducted early and accurately.

Regrettably, it is estimated that as many as 1,000 infants are born with genetic metabolic diseases that go undetected; families experience medical nightmares similar to the Farmers' story that could have been prevented with the appropriate technology.

"I probably get at least two e-mails a week from parents saying, 'Help me. My baby is dying. I need to find a diagnosis,'" Laurie Farmer explains. The Farmers have helped set up a biotinidase deficiency family support group website devoted to supporting those affected by biotinidase deficiency.

The current national controversy concerning newborn screening involves the major discrepancy in the number of genetic screenings mandated by each state. For instance, North Carolina mandates 32 tests while Arkansas only screens for four conditions. With consequences as serious as mental retardation and early death, this inequity is no small matter.

Each state (and the District of Columbia) determines its own list of diseases and methods for screening. All states test for a core group of disorders including PKU, hypothyroidism and galactosemia. However, each state's mandated newborn screening tests vary tremendously despite identical World Health Organization criteria for disorder screening. State screening laws vary based on disorder prevalence, detectability, treatment availability, outcome and overall cost effectiveness.

In order to identify disorders, states routinely test blood spots collected from newborns for up to 30 metabolic and genetic diseases. The law states: "When a live birth occurs in a hospital the physician shall have a specimen of the infant's blood taken prior to the infant's discharge from the hospital."

Importance

Unfortunately, many parents are unaware of the importance of newborn genetic screening. In cases in which the state fails to perform sufficient screenings, parents need to understand their options involving private laboratories. "During my pregnancy, no one ever talked to me about supplemental screening," says Laurie Farmer. Supplemental newborn screening using new tandem mass spectrometry technology is a single test run by private companies that can detect more than 30 inherited metabolic disorders. If parents are not satisfied by the amount of hospital-administered newborn screenings, they can make arrangements through private laboratories for additional screenings. Private companies charge $25 to $100 depending on how many screenings they perform.

Recently, newborn screening activists have achieved success in spreading the word through lobbying, media contacts and Internet web sites. "I do think that there is a newfound awareness in this arena. Mainstream America is starting to realize that this is out there," explains Laurie Farmer on the importance of newborn genetic screening. "Parenting magazines are also helping to increase awareness."

In an effort to reduce inequity among the screening tests offered in each state, public health policy makers must step to the forefront. The National Newborn Screening Taskforce, organized by the American Academy of Pediatrics and funded by the Health Resources and Services Administration, concluded that there should be a national consensus on the diseases tested for state programs of newborn screening. To that end, the American Academy of Pediatrics, American College of Medical Genetics, Health Resources and Services Administration, Centers for Disease Control and Prevention, March of Dimes and other groups are working together to create a national agenda for newborn screening.

Dr. Paul Fernhoff, an Emory genetics specialist who treats children identified with genetic or metabolic disorders, is a distinguished leader in his field on a national, regional and local level. He serves as chairman of the Newborn Screening Advisory Committee, which discusses policy initiatives for the Genetic Newborn Screening Program and helps the state interpret newborn screening on a national level. This committee includes program and hospital representatives, legal advisors, medical professionals, representatives from advocacy groups, and parents/consumers. Fernhoff has worked with the community to increase the number of mandated screenings in Georgia.

"We're talking about four million children a year who need to be tested," Fernhoff explains. "My prediction is there will be a core group of disorders that at a national level, most states will go along with."

Currently, all 50 states and Washington, D.C. conduct universal newborn screening and follow-up programs for three disorders: PKU, galactosemia and congenital hypothyroidism. In terms of mandated newborn screening tests offered by each state, Georgia resides in the middle ground with 10 tests. Two of these tests, MCAD and biotinidase deficiency, were added by a Department of Human Resources vote on February 19, 2003. These tests are now possible because of Georgia's recent purchase of advanced screening technology in the form of tandem mass spectrometry (TMS), which detects up to 20 disorders. Infants in Georgia are currently tested for PKU, galactosemia, congenital hypothyroidism, maple syrup urine disease, tyrosinemia, congenital adrenal hyperplasia, homocystinuria, and sickle cell blood disorders. Screenings for biotinidase deficiency and MCAD should begin by July 2003. It is expected that Georgia will mandate additional TMS newborn screenings in the near future.

While the increase in mandated newborn screenings is good news, it is not as simple as testing for the maximum number of disorders. "It's like anything else in life, you have to scratch below the surface," explains Fernhoff. TMS enables multiplex testing, making it the first technology able to test for multiple diseases. The ability to identify many diseases allows more diagnosed infants to receive early treatment. However, this testing also seems to identify children that never would have required treatment under normal circumstances. As a result, this label stigmatizes children and increases public health expenditure.

"There are children who will be treated with MCAD who never would have needed it," Fernhoff says. "Labeling, treating kids, denying them insurance. Technology is clearly pulling us--just because you can test, doesn't mean you should." This public health outlook contradicts parental opinion that states should mandate the highest possible number of screenings. But as Fernhoff explains, parents are beginning to understand that full use of technology can be hurtful. "Parents are asking the right questions; they are learning. Hopefully, through the Web and other sources, parents will learn why we shouldn't test for everything within our capabilities."

Despite doubt about a few questionable disorders, all states collectively aim to improve newborn health. In the last decade, technological advances have significantly increased detection of genetic and metabolic disorders in newborns. Nevertheless, inequity between state newborn screening laws continues to exist.

A national standard for newborn screening can be accomplished if public health policy-makers step forward in a timely manner.