June 14, 2002

Senator Dodd and honorable committee members, it is indeed an honor to appear before you and speak of my experiences at Yale University, which is one of the treatment centers in Connecticut for children with conditions detected by newborn screening. I have also been asked to share my perspective as a treating physician involved with newborn screening in Connecticut and Indiana, and as a current member of the Genetics Advisory Committee of the Newborn Screening Program in Connecticut.

It is gratifying to see your committee focusing on the vitally important issue of newborn screening. Similar to how childhood vaccination prevents lethal and serious infections, newborn screening programs have considerable impact on the health of American children. These programs clearly prevent infant and childhood death, mental retardation, and lead to the early diagnosis of uncommon conditions that may elude detection until catastrophe strikes.

For newborn screening programs to be effective, program components need to be executed with precision and reliability, both individually and collectively. In Connecticut, these major components include testing, tracking, and treatment segments, and the Genetics Advisory Committee.

Testing is dependent on the participation of hospitals and birthing centers where infants are seen and blood spot samples are obtained. Testing is mandatory for all the children born in our state. A centralized laboratory in Hartford processes these samples and performs more than 500,000 individual analyses per year.

Our tracking unit notifies primary care providers and treatment centers of abnormal test results. This unit actively ensures that the babies with detected problems are promptly evaluated and treated. This function is performed by six workers in the Connecticut Department of Public Health. These individuals also work with local hospitals to ensure adequate specimen collection, identify and correct collection problems, and provide outreach education.

Treatment centers consist of subspecialists with the expertise to treat children with the detected problems. In Connecticut, the endocrine and metabolic treatment centers are located at Yale University and the University of Connecticut. The sickle cell treatment centers are located at Yale University and St. Francis Hospital. The personnel involved include Pediatric Endocrinologists, Genetisits, and Hematologists, nursing staff, genetic counselors, social workers, and clerical staff.

The fourth component of our program, the Genetics Advisory Committee (GAC), also plays an essential role in Connecticut newborn screening. The GAC consists of individuals from the state laboratory, treatment centers, the Department of Public Health, and we are adding consumers. The GAC meets every 3 months and the meetings are open to the public. At each meeting we review the activities of the state laboratory, the tracking unit, the treatment centers, and confirmed cases. We address problems, such as inadequate specimen collection, refusals for testing, and difficulties with insurance coverage for affected children. Most importantly, the GAC facilitates interaction between testing, tracking, and treatment components and provides a venue to generate new directions and pilot programs.

In CT, we currently test for eight disorders. These include congenital hypothyroidism and congenital adrenal hyperplasia, which are endocrine or hormone disorders; biotinidase deficiency, galactosemia, homocystinuria, maple syrup urine disease, and phenylketonuria, which are metabolic disorders; and hemoglobinopathies, which include sickle cell disease. Thanks to legislation signed by Governor Rowland last week, we will soon be expanding our screening program to detect metabolic disorders than can be diagnosed by tandem-mass spectrometry. This new testing will be in addition to the eight disorders that we already test for.

As an endocrinologist, I am acutely aware of the importance of testing for congenital hypothyroidism. Congenital hypothyroidism is the most common of the conditions tested for by newborn screening programs, occurring in 1 in 4,000 children. Congenital hypothyroidism is the most common preventable cause of metal retardation. About 45,000 children are born in our state each year, and about 12 infants are found to have this condition. The laboratory costs to screen 45,000 children for hypothyroidism are about $100,000 per year, or $8,000 for each case detected. This pales by comparison to the hundreds of thousands of dollars needed to care for a severely retarded child, not to mention the terrible toll on the parents, and the lost potential of an individual being able to contribute to society.

Whereas all states screen for congenital hypothyroidism, only 31 states test for congenital adrenal hyperplasia, also referred to as CAH. This is the third most common condition that can be detected by newborn screening and the most immediately lethal. Each year in CT we detect between 2 and 4 children with CAH. If unrecognized, CAH can lead to the sudden death within weeks after birth.

There is an internet message board for parents of children with CAH. I review this site from time-to-time. I find it chilling and sad to still read painful notes from parents talking about the recent death of their child due to CAH. If those same parents lived in a state with CAH screening, their child's death could have been prevented. It costs only about $3.00 to screen a child for this condition.

Although the testing component is essential, we need to ensure that there is proper tracking and treatment of infants with recognized problems. No matter how good a testing program is, children will suffer unless there are effective mechanisms for the immediate notification of primary care providers to orchestrate prompt evaluation and treatment. Earlier in my career when I moved from Massachusetts to Indiana, I discovered that only a small fraction of patients with congenital hypothyroidism in Indiana, about 20%, were treated by pediatric endocrinologists. Furthermore, many of these babies were treated with inadequate doses of thyroid hormone and treatment was inordinately delayed. Recognizing this problem, in 1995 I approached the Indiana State Department of Health and secured funding to help establish the Indiana Congenital Hypothyroidism Follow-up Program. This program relied simply on doctor-to-doctor contact to arrange immediate evaluation and treatment. Overnight, 100% of the children in Indiana with congenital hypothyroidism became treated according to recommended guidelines. This program initially cost about $30,000 per year.

Lastly, we need to be sure that local practitioners and departments of health have the resourses of physicians with expertise in pediatric endocrine and metabolic disorders to provide treatment for affected children. Fortunately in CT, there are three major treatment centers to provide this care. Yet, currently a nationwide shortage of pediatricians trained in endocrine and metabolic disorders is looming that may threaten our ability to provide immediate and long-term care for children. We need to make sure that we can continue to train physicians to have the expertise to treat uncommon congenital endocrine and metabolic problems.

There is little doubt that newborn screening programs save lives, prevents retardation, and reduces serious illness in children. With the development of new technologies, it is now possible to test for many more disorders than are tested for now in many states, including Connecticut. Yet, in our desire to expand newborn testing, we must be sure that we also provide the resources for the tracking and treatment of affected children, and support advisory committees for state-based screening programs. It is much more glamorous to spend funds on exciting new technology than on a desk and a telephone. However, the people on the phones at the tracking and treatment centers are as critical, if not more so, than the technology of effective screening program.

I look forward to working with you to improve upon these programs, minimize state-to-state variability, and make it possible for all American children with congenital endocrine and metabolic problems to have timely diagnosis and proper treatment.

Thank you.

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