Philip M. Farrell, MD, PhD


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Current Activities

On this page:

Promoting CF Newborn Screening | The Lifecourse Initiative for Healthy Families | Studying the Origins of CF | Developing CME on CF | Advising and Consulting | Serving the SMPH

Promoting Cystic Fibrosis Newborn Screening

As Professor of Pediatrics and Population Health Sciences at the University of Wisconsin School of Medicine and Public Health, Dr. Farrell concentrates his efforts on cystic fibrosis (CF) newborn screening and population health promotion. His activities include:

  • Leading the Wisconsin Cystic Fibrosis Neonatal Screening Project as the principal investigator on an National Institutes of Health-funded epidemiologic research study. This study, which includes collaborative research with France, demonstrates the medical benefits of early diagnosis of CF through neonatal screening. A related study, supported by a grant from the US Cystic Fibrosis Foundation (CFF), analyzes psychosocial outcomes after newborn screening.
     
  • Collaborating with the Centers for Disease Control on process improvement for CF newborn screening. This collaboration works 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.

    Read the March 2007 and February 2008 CF newborn screening QA program quarterly reports.
     
  • Serving as the CFF's facilitator for implementation of CF newborn screening. As of December 2009, CF newborn screening was universally mandated throughout the US.

    Read an update on the extraordinary national spread of newborn CF screening, and an article on Dr. Farrell's work advocating newborn CF screening in Ireland.

arrow View the maps below for the current status of newborn CF screening throughout the US and the world.

Current status of CF NBS (2010)

Current status of CF NBS by Test (2010)

Global Distribution of CF Newborn Screening in 2009

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The Lifecourse Initiative for Healthy Families

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.

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

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Studying The Ancient Origin of Cystic Fibrosis

Cystic fibrosis (CF) is the most common life-threatening autosomal recessive genetic disease among Caucasians. It is most frequently associated with the F508del allele, which was the first mutation discovered. This 3 base pair (bp) deletion allele generally accounts for ~70% of CF chromosomes in Europeans and Euro-Americans, but in Denmark, a higher frequency—namely >85%—has been documented. 

In the Western World, about half of CF patients are homozygous for F508del and another 40% have one F508del and another mutation. Thus, the relatively high incidence and prevalence of this disease are largely attributable to F508del, and about 1 in 30 of current, native Europeans are estimated to be CF/F508del heterozygote carriers.

The basis of this high frequency is unknown, although available data suggest a combination of a founder effect and a selective advantage of some unknown nature in the heterozygote. This gap in knowledge has led to great challenges for clinical programs that offer newborn screening for CF using the common IRT/DNA method because it identifies CF heterozygote carrier infants. (In 2009, approximately 8 million babies were screened for this disease.)

In an effort that might referred to as archaeological genetics applied to evolutionary medicine, we are investigating the following hypotheses:

  1. The F508del mutation was present in Europe during the Iron Age with an incidence at least as high as the current heterozygote carrier rate (~1:30);

  2. F508del was disseminated throughout central and western Europe by large-scale population movements and migrations in the Pre-Roman Iron Age; and

  3. The presumed selective advantage for F508del heterozygotes is attributable to protection from endemic environmental exposures related to diet and/or heavy metal toxicity, rather than to infectious diseases, as some researchers have speculated.

The rationale for the final element relates to the supposable lack of endemic infectious disease, evidence that suggests long-term exposure of prehistoric Europeans to lead and arsenic, and some recent indications that the CFTR gene is influenced by arsenic.

Our archaeological genetics work thus far has enabled us to:

  • Develop reliable aDNA methods with excellent quality control; and
  • Identify the principal cystic fibrosis mutation, F508del, in ancient DNA that we extracted from teeth of individuals buried near the Danube River during the LaTène period of the Celtic culture (~400 BC).

arrow Read the initial report on aDNA: Farrell P, Le Marechal C, Ferec C, Siker M, Teschler-Nicola, M. Discovery of the Principal Cystic Fibrosis Mutation  (F508del) in Ancient DNA from Iron Age Europeans. Nature Precedings, 2007.

However, Bronze Age specimens from the same cemetery, presumably an ancestral population, analyzed by the same methods, have been negative for F508del allele.

In addition to DNA analyses, we are analyzing bone specimens for toxic trace elements such as arsenic and lead. These same samples are also used for AMS-radiocarbon dating and stable isotope determinations that allow us to reconstruct paleodietary habits.

Such analyses have enabled us to determine that high levels of arsenic were apparently common during the Iron Age and subsequently in Romano-Britons of Londinium (Roman London during 100-200 AD).

arrow Read the published article on these methods and initial results: Shafer MM, Siker M, Overdier JT, Ramsl PC, Teschler-Nicola M, Farrell PM. Enhanced methods for assessment of the trace element composition of Iron Age bone. Sci Total Env. 401: 144-161, 2008.

This project has been organized to include several European countries: Austria, Denmark, England, France, Ireland, Italy, and The Czech Republic.

Our interdisciplinary research team includes collaborations with:

  • European archaeologists and anthropologists Maria Tescher-Nicola, Peter Ramsl, Bill White, JD Hill, Barry Cunliffe, Petr Veleminsky, Yves Le Bechennec, and Niels Lynnerup;
  • Molecular geneticists Cedric Le Marechal and Claude Ferec in Brest, France, and Jeremy Bird in Sligo, Ireland; and
  • Geochemists or geophysicists Christopher Ramsey (Oxford), Thomas Stafford (Colorado, USA), and Martin Shafer (University of Wisconsin–Madison).

Professor Le Marechal is working as a visiting professor in Wisconsin during 2008-10 and has established excellent ancient DNA laboratories in Brest and Madison.

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Developing Continuing Medical Education on Cystic Fibrosis

Cystic fibrosis newborn screening was recommended by CDC in an historic publication that also recommended that “Newborn screening systems should ensure parental and provider education…” (Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004;53(RR-13):1–36).

This essential component of CF screening has proved to be difficult for a variety of reasons. In fact, the understanding of health care providers and the lay public regarding all newborn screening activities in the USA leaves much to be desired, despite four decades of PKU testing.

Consequently, Dr. Farrell has worked intensively since 2005 on the development and presentation of continuing medical education programs covering both the early diagnosis of cystic fibrosis through newborn screening and innovative methods of providing care to keep patients and their parents healthy.

View Dr. Farrell's list of 2005-2008 lectures.

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Advising as Philip M. Farrell Consulting, LLC

While serving for nearly 12 years as Dean of the University of Wisconsin Medical School (now the School of Medicine and Public Health), and for the 10 prior years as Chair of the University of Wisconsin Department of Pediatrics, Dr. Farrell acquired unique knowledge and leadership skills in academic medical center development.

Such complex organizations have been slow to advance toward integrated, synergistic groups of specialists focussed on a common, unifying vision/mission. Indeed, the autonomous, independent nature of physicians and scientists makes medical faculty and their departments extremely challenging to help when essential changes must be accomplished in a reasonable time frame (usually 1–3 years).

Using leadership methods and coaching techniques that proved very successful at UW-Madison, Dr. Farrell has been advising academic medical center leaders on a variety of innovations in:

  • Strategic planning;
  • Academic facilities development;
  • Integrated group practice organization;
  • Clinical programs reengineering; and
  • Medical education combined with public health training.

His work as an academic consultant is provided as an extension of Philip M. Farrell Consulting, LLC.

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Serving the UW SMPH

After 12 years as Dean of the University of Wisconsin Medical School (now the School of Medicine and Public Health), Dr. Farrell continues to serve the school through numerous of leadership, fund-raising, and educational activities. These include:

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