Sara and Douglas Christensen believe their youngest daughter Lillie's autism is likely genetic because they have a nephew who also has autism. They'd like to know for sure, but that would require the kind of study that has never before been conducted.
Now Lillie with her bright eyes, blond pigtails and beguiling indifference to the news conference that was going on around her Friday at Primary Children's Medical Center is the human face of just such a study, although she will not be a participant.
She, her mom, Sara, and stuffed bear "Daisy Daffodil Buttercup Christensen" helped kick off the beginning to Salt Lake County's participation in The National Children's Study. The University of Utah and Salt Lake County were recently named among six "vanguard" or pilot centers for the study, set to begin recruiting within two years.
Before it's done, the study will have followed 100,000 pregnant women and the resulting infants from before birth (and in some cases before conception since women who might become pregnant are being recruited) until the child's at least 21. It will be conducted in 125 communities selected to represent America's demographics.
The study will examine genetics, environment and how the two interact to shape health and well-being, said Gov. Jon M. Huntsman Jr.
"It's the most ambitious, comprehensive study of children ever conceived," said Alan Fleischman, chairman of the study's federal advisory committee.
Researchers will be looking at psychological, social, biological and environmental factors that impact a child's well-being, he said. Of special interest are what happens during pregnancy, birth defects, asthma, obesity, diabetes and autism, among others.
That means researchers will be looking at air and dust in children's schools and homes, what they eat, how they are cared for, neighborhood safety, health care and much more, he said.
The researchers will also be storing a lot of biologic samples, said Dr. Cheryl M. Coffin, a professor of pathology at the U., who is spearheading local plans for collection and storage of blood, DNA, nail samples, hair, urine and possibly placenta tissue. It's a gargantuan undertaking. In just the Salt Lake County part of the study, a total of 85,000 blood samples will be collected in the first five years.
And while they're thinking in practical terms, like using liquid nitrogen to preserve some fluid samples and how new technology might keep DNA fresh at room temperature, they're also being creative. They are trying to imagine all the ways the samples might be needed in the future, when, perhaps, it can be paired with technology not yet even conceived.
Recruitment plans are being made now, in anticipation of the study actually beginning in 2007, said Sarah Keim, deputy director of the program office for the study, within the National Institutes of Health. It may follow census tracts or school boundaries or some other logical, statistically sound basis that ensures an end result that adds up to a picture of Salt Lake County's demography, from ethnicity to income.
Sara Christensen spoke movingly of what such a study would mean to her family. Lillie, the youngest of four children, was diagnosed at age 2 1/2. She's now 8. And while she's very loved, raising her has been at times "hard," her mother said. She can rattle off statistics about autism, but it's harder to understand what causes it and what might prevent it. "Let's figure it out," she said.
Just think of it, challenged Dr. Edward B. Clark, medical director of Primary Children's Medical Center and head of pediatrics at the U. He will serve as the vanguard center's principal investigator. None of the children who will participate in the study have been conceived yet. And the study will use technologies that didn't exist five years ago.
Although the study is set to run at least 21 years, congressional funding willing, the first results would be released as early as 2009, Keim said.
It is the power of the early results that Fleischman believes will ensure that the study runs its full term. He thinks findings will be so clear and compelling that the study will have no trouble maintaining ongoing financial support from Congress. But to do that, they have to have all their funding for the planning stages, too.
Planners would like to see the children's study run even beyond that, perhaps following the babies their entire lives. But they acknowledge it's a huge commitment of time and money. This year, costs will be about $69 million. And it will get more expensive when families are enrolled, what with testing and storing and processing and also paying families an incentive to join and stay in. They're toying with paying $500 a year. Another possibility is setting up education savings accounts for participants to help fund college, Clark said.
Participants will have about three visits during pregnancy and an evaluation immediately after birth, with later checkups to coincide with typical "well-child" visits, Clark said.
Keim said the U., with help from its partners in the state Health Department and Intermountain Health care, will recruit about 1,250 people. The six vanguard centers and 125 other centers expected to join them later in the study hope to be done recruiting by 2011.
Congress asked for the study in 2000, but it's funded year to year, and Fleischman said he hopes America will see the value and let their representatives know how important this is to everyone. They must fund the whole study for it to have meaning, he warned.
"We need 100,000 children. If we try to answer the questions we're asking you can't do it with a smaller number of children and get real answers."Its long-term and comprehensive nature creates a sample that will allow researchers to make inferences at causation that can't be done with haphazard recruitment, Fleischman said.