June 14, 2002

Two days from now, many families across the country will celebrate Father's Day. As a first-time dad of a 9-month old baby girl, I will now know the joy of being able to experience that holiday and every other pleasure that comes along with being a father. What I also share with parents everywhere is a constant sense of worry about whether our kids are doing well, are feeling well, and are safe. Nothing is of greater importance than the health and well-being of our children. Today's hearing is about ensuring that health and well-being, in fact the very future, of the most vulnerable members of our society: newborn infants.

Thanks to incredible advances in medical technology, it is now possible to test newborns for at least 30 genetic and metabolic disorders. Many of these disorders, if undetected, would lead to severe disability or death. However, babies that are properly diagnosed and treated can go on to live healthy lives. In the most direct sense, newborn screening saves lives.

Frighteningly, the disorders that newborn screening tests for can come without warning. For most of these disorders, there is no medical history of the condition in the family, no way to predict the health of a baby based on the health of the parents. Although the disorders that are tested for are quite rare, there is a chance that any one newborn will be effected – a sort of morbid lottery. In that sense, this is an issue that has a direct impact on the lives of every family.

Fortunately, screening has become common practice in every state. Each year, over four million infants have blood taken from their heel to detect these disorders that could threaten their life and long-term health. As a result, about one in 4,000 babies is diagnosed with one of these disorders. That means that newborn screening could save approximately 1,000 lives each year. That is 1,000 tragedies that can possibly be averted – families left with the joy of a new infant rather than absolute heartbreak.

That is the good news. However, there is so much more to be done. For every baby saved, another two are estimated to be born with potentially detectable disorders that go undetected because they are not screened. These infants and their families face the prospect of disability or death from a preventable disorder. Let me repeat that – disability or death from a preventable disorder. The survival of a newborn may very well come down to the state in which it is born. As you can see from this first chart, there is an enormous disparity in newborn screening between states. Only two states, including my home state of Connecticut thanks to recent legislation, will test for all 30 disorders. The vast majority test for eight or fewer.

If you look at the second row of this chart, you can see what this means in very real terms. MCAD is a metabolic disorder that affects one in 15,000 newborns. If detected early and treated, the prognosis for children with MCAD is quite good. Most likely they will lead normal, healthy lives. The alternative is tragic. If undetected, MCAD can lead to cardiac arrest, respiratory failure, seizures, and death. Nevertheless, only nine states currently require that newborns be tested for MCAD. For a child born with this disorder, being born in Connecticut may mean a normal life, while birth in 42 other states and the District of Columbia could amount to a death sentence.

Let me tell you a story that illustrates this point and more broadly, why we are here today. Behind me is a picture of Jonathan Sweeney, now three years old, from Brookfield, CT. At the time of his birth, the state only tested for eight disorders. He was considered a healthy baby, although he was a poor sleeper and needed to be fed quite frequently. One morning in December of 2000, Jonathan's mother, Pamela, found Jonathan with his eyes wide open but completely unresponsive. He was not breathing and appeared to be having a seizure. Jonathan was rushed to the hospital where, fortunately, his life was saved. He was later diagnosed with L-CHAD, a disorder that prevents Jonathan's body from turning fat into energy.

Despite this harrowing tale, Jonathan and his family are extremely fortunate. Jonathan is alive, and his disorder can be treated with a special diet. He has experienced developmental delays that most likely could have been avoided had he been tested for L-CHAD at birth. This raises a question. Why was he not tested? Why do 47 states still not test for L-CHAD?

The primary reason for this unfortunate reality is the lack of a consensus on the federal level about what should be screened for, and how a screening program should be developed. Twenty of the thirty disorders can only be detected using a costly piece of equipment called a Tandem Mass Spectrometer. Currently, only nine states have this resource. Many health care professionals are unaware of the possibility of screening for disorders beyond what their state requires. Parents, and I include myself, are even less well-informed. My daughter Grace was born in Virginia, where they screen for nine disorders. I was extremely relieved when all of those tests came out negative. However, at that time I did not know that this screening was not as complete as it could have been. My ignorance had nothing to do with my love for my daughter or my capability as a parent. The fact is that the majority of parents do not realize that this screening occurs at all, nor are they familiar with the disorders that are being screened for. For that reason, one of the most important first steps that we can take to protect our children is to educate parents and health care professionals.

In the Children's Health Act of 2000, I supported the creation of an advisory committee on newborn screening within the Department of Health and Human Services. The purpose of this committee would be to develop national recommendations on screening, hopefully eliminating the arbitrary disparities between states that currently exist. The Children's Health Act also included a provision to provide funding to states to expand their technological resources for newborn screening. Unfortunately, funds were not appropriated for either of these provisions. This year, Senator DeWine and I are leading a campaign to secure $25 million in appropriations needed for this crucial initiative. It is unconscionable for us to not do all we can to help prevent children from dying of treatable disorders.

We are also working on legislation to make both health care professionals and parents aware of potential disorders and newborn screening. Every parent should have the knowledge necessary to protect their child. The tragedy of a newborn's death is only compounded by the frustration of learning that the death was preventable.

This legislation will also provide states with the resources to develop programs of follow-up care for those children diagnosed by a disorder detected through newborn screening. While these families are the fortunate ones, in many cases they are still faced with the prospect of extended and complex treatment or major lifestyle changes. We need to remember that care does not stop at diagnosis.

Before we hear from the witnesses, let me briefly address one more point. As our capabilities improve, it may become possible to screen newborns for hundreds or thousands of disorders. While this will undoubtedly be desirable to many parents, it could also open a Pandora's Box of potential misuse of that information. We must not allow this to undermine the benefits of newborn screening. Parents should feel comfortable that these tests exist to save their children's lives, and not to harm them in any way. I am strong advocate for protecting the privacy of individuals' medical records and am currently working on legislation to prohibit discrimination based on an individual's genetic information. We must allow people to feel comfortable seeking medical treatment without the threat that the results will be used against them.

I am so pleased to have the opportunity to hold this hearing today, and to learn more about this issue from the experts on our two panels. I would like to thank all of the witnesses for lending their time and insight on such an important issue.

Multimedia: View photos from the hearing
Multimedia: Listen to portions of the hearing

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