- The ARC - California Edition -

Expanding the Screening of Newborns

One of the legislative bills being tracked by Arc-California at this time would expand the screening of newborns for additional genetic diseases. This piece of legislation is identified as SB537 - Genetic Diseases: Expanded Newborn Screening, and has been authored by Senator Leroy Greene.

During the first half of this 2-year session, the bill has already been endorsed by the Senate Health and Human Service committee, and even though it is a bill requiring additional funding, it was unanimously passed by the Senate Appropriations committee, and it then sailed through the Senate as well on a vote of 38 to zero. It currently is awaiting consideration by members of the Assembly.

What this bill would do is establish a pilot program that has the potential of updating and improving the existing NBS Program. The current program tests for Phenylketonuria, Galactosemia, Hypothyroidism, and other preventable disorders that if treated in time can prevent mental retardation and other problems.

The technology that has been used over the years was based on techniques developed during the 1960s or earlier. These currently used methods are considered to be quite good, but over the last 30 or 40 years technology has improved. It is judged by many that improvements in accuracy, repeatability, and cost can be achieved.

In addition, there are a number of disorders for which reliable test techniques just did not exist until recent years. Some of the genetic conditions eligible for being added to the screening program in today's environment fall into five categories: Cystic fibrosis; Biotinidase defect; Urea cycle defect; Organic acid defect; Fatty acid oxidation defects.

The bill's author, Senator Greene, is no stranger to the Arc, having authored the original pieces of legislation in the early 1960s which authorized a program which would screen all California newborns for Phenylketonuria, Galactosemia, and other preventable disorders. These disorders, which if known to exist, can be treated and thereby mental retardation can be prevented.

All of the conditions under consideration to be added by the proposed newborn screening program are conditions which are inherited.

Cystic Fibrosis
Early detection of Cystic Fibrosis can prevent hospitalization and often leads to a prolonged life for the person involved. Currently, there is no known cure for Cystic Fibrosis. The incidence is one case out of every 2,000 live births - This means that there are 300 new cases of Cystic Fibrosis in California every year. Biotinidase Defects - All detected cases are treatable and curable. Without screening, the infant usually is already damaged before treatment is started. Screening newborns for a lack of Biotin (important in brain growth) can be very meaningful. The incidence of this problem is one case per 15,000 live births - 40 new cases in California per year.

In today’s medical care environment, it is important to point out that treatment can save dollars by eliminating the cost of lifetime care if the defect is not detected and treatment does not occur.

Urea Cycle Defects
There are three defects of the urea cycle that are understood enough for consideration. Two are treatable, one is fatal. The treatable ones save hospitalization and prograssive brain damage. This means that if these are identified and treated before the damage occurs. Here again is a candidate of important cost savings.

Organic Acid Defects
These are serious metabolic disorders which can be treated. These diseases are usually fatal without treatment.

Fatty Acid Oxidation Disorders
This type of disorder is treatable, and life-saving, and curative. Since these are hereditary disorders, after the initial diagnosis is made in the family, one can anticipate a recurrence risk of 25%. Newborn testing is obviously of great benefit because it identifies the problem before brain damage occurs.