You asked for background information on screening newborns for cystic fibrosis.

SUMMARY

Cystic fibrosis (CF) is a genetic disease that is the second most common life-shortening childhood-onset inherited disorder in the United States. Each year, about 1,000 people in the U. S. are diagnosed with CF. Recent advances in treatment have improved the length and quality of life for people with CF, but their median age of survival is in the early to mid-30s.

Currently, newborns in 11 states are screened for CF, according to the Centers for Disease Control and Prevention (CDC). Eight states include CF in their universal newborn screening programs; in three, including Connecticut, screening is conducted at hospitals’ discretion. The CDC recently stated that scientific evidence justifies including CF in state newborn screening programs.

Connecticut does not include CF in its universal newborn screening program, but 20 Connecticut hospitals choose to screen newborns for CF. The University of Connecticut Health Center’s Cystic Fibrosis Screening Lab conducts the tests for 18, while Yale-New Haven Hospital does them for two.

The laboratory cost of CF newborn screening varies depending on the protocol used, the CDC reports. The most commonly used test costs about $ 1. 50; follow-up DNA tests run between $ 20 and $ 50; and a sweat test, which is definitive for diagnosis, costs about $ 90.

NEWBORN SCREENING FOR CYSTIC FIBROSIS

Cystic Fibrosis

Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs, digestive system, and other organs. The mucus leads to chronic lung infections and difficulty digesting food and nutrients. Most people with CF must perform daily airway clearance therapy to help clear mucus from the lungs, take antibiotics to fight lung infections, take pancreatic enzyme supplements with each meal to absorb enough calories and nutrients, and take drugs to thin mucus and improve lung function.

CF is the second most common life-shortening childhood-onset inherited disorder in the United States, according to a recent evaluation by the CDC (sickle cell disease is first). Each year, CDC reports, about 1,000 people in the U. S. are diagnosed with CF.

Recent advances in care and treatment have improved the length and quality of life for people with CF. The median age of survival is now in the early to mid-30s, and for babies born today with CF, the chances of improved health and longevity are greater, according to the Cystic Fibrosis Foundation.

Screening Nationally

Newborns in 11 states are currently screened for CF, according to the CDC. Eight states include CF in their universal newborn screening programs (Colorado, Wisconsin, Wyoming, Massachusetts, Mississippi, New York, New Jersey, and South Carolina; Oklahoma is planning to add CF screening this year). In three others (Connecticut, Montana, and Pennsylvania), screening is conducted at hospitals’ discretion.

The CDC recently stated “including screening for CF in state newborn screening programs is justified” based on a preponderance of evidence showing that the health benefits to children with CF outweighed the risks involved in screening. But the CDC went on to say that the net balance of benefits and risks is contingent on how CF screening is implemented. Adoption of newborn screening should include a planning process that involves specialized CF centers and genetic counselors. Implementation should ensure that adequate personnel and resources required for accurate diagnosis, clinical management, and psychosocial and genetic counseling are available. Benefits would be maximized, it said, if children have access to state-of-the-art therapy and follow-up with experienced professionals.

Screening in Connecticut

Although testing for CF is not included in Connecticut’s newborn screening program, 20 hospitals in the state choose to screen newborns for it. The University of Connecticut Health Center’s Cystic Fibrosis Screening Lab conducts the tests for 18 hospitals, while Yale-New Haven Hospital does them for two. UConn charges $ 15 for an initial test (called an IRT) and a second one at two weeks if the first is positive. If both tests are positive, it conducts a DNA test and recommends to parents that the infant have a sweat test, which is definitive for a diagnosis. The sweat test is not included in the $ 15 charge. If these tests confirm CF, the lab refers parents to counseling at cystic fibrosis centers at the Connecticut Children’s Medical Center in Hartford or Yale-New Haven.

Screening Costs

The laboratory cost of CF newborn screening varies depending on the protocol used, the CDC reports, but it is comparable to other common newborn screening tests. In Wisconsin, the initial IRT screening test costs $ 1. 50. Infants with elevated IRT levels are referred for DNA tests called mutation analysis. The cost of a single-mutation analysis is $ 20. 50 and $ 50. 70 for a multiple-mutation analysis. These test costs are embedded in a $ 55. 50 universal screening test charge.

Colorado charged $ 2. 38 for two IRT tests in 2000 (the last date for which costs are available). One test is conducted in the hospital; the second is done at the infant’s first pediatric visit. If these two tests are positive for CF, a confirmatory sweat test is done, which costs $ 87 (again, the cost in 2000). About 100 sweat tests are conducted annually. The costs of all tests are included in the universal charge for newborn screening, as is follow-up counseling for parents.

The CDC cautions that laboratory testing is just part of the total newborn screening cost. The costs of informed consent procedures, educational and follow-up counseling services, and associated administrative costs must be added to gain a complete cost picture. On the other hand, newborn screening could avert future diagnostic and treatment costs.

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