Newborn Screening for Metabolic and Sickle Cell Disorders Program

Program History

Georgia NBS Legislative History

A newborn screening program to prevent the effects of specific genetic diseases has been a part of the national public health mandate since 1962. It began as an effort to prevent mental retardation in newborn infants affected with Phenylketonuria (PKU). Mass screening for PKU in all newborn infants in Georgia was initiated in 1968.

In 1978, legislative approval was obtained to expand PKU screening to include a group of six treatable metabolic/endocrine disorders, which cause mental retardation if undetected in the newborn period. The 1978 amendment also recognized that newborn screening has limited value unless it is coupled with rapid follow-up, expert diagnosis, adequate management, and family counseling.

The first mandated screening in Georgia for Sickle Cell Anemia began in 1964. The original program did not test infants until at least six months of age and many at risk children were never tested. Early testing focused on adult premarital and prenatal testing and several federally funded organizations provided community-based testing and counseling at various locations in Georgia. As treatment methods developed, the possibility of reducing the morbidity and mortality associated with this inherited disease was recognized and the emphasis began to shift to early identification and management in the pediatric age group.

In 1980, the State Sickle Cell Testing Program was modified to include cord blood testing for all susceptible newborn infants. In 1998, universal screening was mandated for all newborns for hemoglobinopathies.

In 2007, the newborn screening panel in Georgia was expanded to include many additional disorders, including Cystic Fibrosis (CF).

Georgia NBS Legislative History

• 1968 - Phenylketonuria (PKU)
• 1978 - Galactosemia, tyrosinemia, maple syrup urine disease (MSUD), homocystinuria, congenital hypothyroidism, and selected voluntary screening for sickle cell anemia were added
• 1990 - Congenital Adrenal Hyperplasia (CAH) was added
• 1997 - DHR Board adopted Rules and Regulations to begin mandatory universal newborn screening for sickle cell disorders
• 2003 - DHR Board adopted Rules and Regulations to screen for biotinidase deficiency and medium chain acyl co-A dehydrogenase deficiency (MCADD)
• 2007 - Isovaleric acidemia, Glutaric acidemia type I, 3-OH 3-CH3 glutaric aciduria (HMG), Multiple carboxylase deficiency, Methylmalonic acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), Propionic acidemia, Beta-ketothiolase deficiency, Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Long-chain L-3-OH acyl CoA dehydrogenase deficiency (LCHAD), Trifunctional protein deficiency, Carnitine uptake defect, Citrullinemia, Argininosuccinic acidemia, and Cystic Fibrosis were added.

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