Farrell Research Group

Dr. Farrell has had a long-standing interest in pediatric pulmonology and nutrition, especially as related to infants with respiratory disorders such as cystic fibrosis (CF).

His research group for the past 25 years has been focused on CF newborn screening and has been continuously funded by the NIH to investigate the benefits, risks, tests, and costs of early diagnosis through newborn screening for this important genetic disease. The results of this research have had great impact throughout the United States and abroad. During 2010, all states plus the District of Columbia are screening newborns for CF, with 35 of them (covering approximately 90% of U.S. newborns) using an IRT/DNA algorithm developed in Wisconsin through this program and its collaboration with the State Laboratory of Hygiene. In addition, most European countries have applied this method of early diagnosis through newborn screening.

Leading the Wisconsin Cystic Fibrosis Neonatal Screening Project as principal investigator on an NIH-funded research study

The stimulus for this unique investigation, initiated in 1984, came from Dr. Farrell's experiences as a practicing neonatologist and pediatric pulmonologist. He fully appreciated the difficulties in diagnosing CF, despite its relatively high incidence among autosomal recessive hereditary diseases. This randomized clinical trial, which has received continued National Institutes of Health support for more than 20 years, involves 650,340 newborns throughout the state of Wisconsin. It has become the largest prospective pediatric research project since the polio vaccine field trials of 1954. A related study, supported by a grant from the US Cystic Fibrosis Foundation (CFF), analyzes psychosocial outcomes after newborn screening.

Results obtained thus far have elucidated epidemiologic characteristics of CF and unequivocally demonstrated significant nutritional benefits without revealing any long-term risks. The nutritional advantages of neonatal screening, published in The New England Journal of Medicine (337:963-969,1997) include greater height, weight, and head circumference. This randomized trial has also demonstrated unequivocally that malnutrition can be prevented in children with CF by a combination of neonatal diagnosis through screening and aggressive nutritional intervention (Pediatrics 107:1-12, 2001).

In 2004, the Centers for Disease Control, in association with the CFF, concluded that the Wisconsin investigation and others have generated enough evidence to recommend national screening of newborns for CF. This recommendation was published in the CDC's October 15, 2004 issue of Morbidity and Mortality Weekly Report. As of 2010, all states plus DC are screening newborns for CF.

Leading national research efforts devoted to quality improvement in the operation of cystic fibrosis newborn screening programs and working with the Centers for Disease Control on process improvement for cystic fibrosis newborn screening

This collaboration aims to develop: a national repository of transmembrane conductance regulator (CFTR) mutations; a best practices protocol for CF newborn screening to be used throughout North America and Europe; and a CF newborn screening quality assurance (QA) program.

Leading an innovative public heath initiative in Wisconsin to lower infant mortality rates among African-Americans

This multiyear, evidence-based project on infant mortality, or more specifically, the disparity of outcomes between white and African-American babies, addresses one of the most critical health problems facing Wisconsin. Although Wisconsin is a leader among states for its low white infant mortality rate (number of infant deaths per 1,000 live births), the infant mortality rate for African-Americans in Wisconsin is the worst in the nation. In 2004, infants born to African-American mothers in Wisconsin were more than four times likely to die before their first birthday than infants born to white mothers (19.3 deaths per 1,000 live births for blacks compared to 4.5 deaths per 1,000 live births for whites). In response, the Wisconsin Partnership Program (WPP) and the University of Wisconsin School of Medicine and Public Health have launched a $10 million initiative to investigate and hopefully lower the high African-American infant mortality in the state.

Dr. Farrell has extended his role in the WPP’s Oversight and Advisory Committee to chair the steering committee of this innovative program, which incorporates best practice public health and self-sustaining community-based interventions to produce better African-American birth outcomes. At the center of this effort is the Lifecourse Initiative for Healthy Families (LIHF), which will work to identify the needs of African-American women and their families, and pursue opportunities to address those needs. Agencies in four Wisconsin communities—Milwaukee, Beloit, Racine, and Kenosha—are currently applying for Community Action Planning Grants through the Lifecourse Initiative. We expect that they will also apply for funds to implement projects designed to lower infant mortality rates in their respective communities.

For more information, visit: http://www.med.wisc.edu/partnership/lifecourse-initiative-for-healthy-families-lihf/1405.