Philip M. Farrell, MD, PhD

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Research Overview | Benefits and Risks of CF Neonatal Screening | Summary of QI Projects on CF Newborn Screening

Dr. Farrell with a young cystic fibrosis patient diagnosed through newborn screening

Dr. Farrell with a young cystic fibrosis patient diagnosed through newborn screening

Research Overview

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

He has published numerous articles on the epidemiology and effects of nutrient deficiencies in preterm infants and patients with CF, and on the benefits and challenges associated with newborn screening programs for this disease.

View presentation on CF Newborn Screening (PDF)

View links to abstracts of Dr. Farrell's publications (via PubMed)

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Assessment of the Benefits and Risks of Cystic Fibrosis Neonatal Screening

Dr. Farrell in research lab

Dr. Farrell in his research lab

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.

Read detailed description of "Assessment of the Benefits and Risks of Cystic Fibrosis Neonatal 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.

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Summary of Quality Improvement Projects on CF Newborn Screening

In 2004, the Centers for Disease Control and Prevention published their pivotal recommendation (MMWR, 14 October 2004) that regions “begin newborn screening for cystic fibrosis.” This was endorsed by the US Cystic Fibrosis Foundation with subsequent guidance for newborn screening (NBS) programs.

Although only five US states were then screening, now all states and many European countries have CF NBS underway. During this rapid implementation, however, many questions have arisen regarding best practices. Until now, the most common method for providing advice between programs has been by responding to questions and through anecdotes, usually oral and occasionally published.

Our research team recognized that this verbal method of reactive quality improvement (QI) was certainly not the most effective way to communicate and that more research and a more proactive, systematic strategy would be preferable.  Also, we discovered that there was no description or assessment of the entire CF NBS process. 

To address these gaps, we proceeded to assess the national accessibility of CF centers in the USA and to study QI methods used in other industries. In addition, we developed a Best IRT/DNA Practices Protocol and the first comprehensive CF NBS flowchart.

To identify opportunities for QI, we selected The Process Failure Modes and Effects Analysis (PFMEA) method for its applicability and because its primary goal is identifying problems before they occur using a systematic method of critical analyses.

More specifically, PFMEA allows preemptive recognition of potential failures or errors. After being introduced in the late 1940s in the US Armed Forces, PFMEA was applied in the aerospace industry during the 1960s, then in the automotive industry, and finally into healthcare as the U.S Joint Commission (JCAHO) added PFMEA use as a new requirement for hospitals to be accredited.

With this method, we identified 96 potential errors or “failure modes,” as well as problems with CF center accessibility for follow-up  and sweat tests.

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