Crossing paths with James Crow, the geneticist (1916-2012)

Jim Crow, a pioneer and legend in the field of population genetics, and an influential and widely loved faculty member here at the University of Wisconsin, died last week at the age of 95. John Hawkes has a fantastic profile of him here, while his faculty page at the UW Laboratory of Genetics faculty testifies to his seemingly unending accomplishments and relentless influence as a mentor.

I had the fortune to meet Jim Crow during my first year as a postdoc on campus and remember well listening to him step us through connections between genetics and population health with energy and agility. At one point, I ordered a used copy of Crow’s Notes, which was out of print by then, but am embarrassed to say that I never made it through much of the book. Time to pull it off the shelf today and reflect on his striking and inspiring career as scientist and mentor.

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CDC releases National Asthma Control Program state profiles

CDC has set up a new page collecting short (two-page) burden of disease profiles from the 36 National Asthma Control Program grantee states across the US.

These summaries highlight key statistical data, such as prevalence and health care use in adults and children, as well as data on patient education and medication use from the Asthma Call-Back Survey.

Great to have these standardized briefs collected in one place. The obvious next step: Make the data underlying these PDFs readily available.

CDC – Asthma – National Asthma Control Program State Profiles

Parents misperceive asthma control in kids

The rise of asthma control and impairment as the main indicators of management has renewed interest in a longstanding challenge: Variability in the perception and experience of asthma symptoms. Parents and children have been shown to differ in their assessments of the existence of asthma, let alone the presence or severity of specific symptoms. And the meaning of symptoms, and the ties to medication taking, are other matters entirely.

A new report from a large interview study suggests that worldwide, few children and adolescents achieve control of their asthma and experience frequent symptoms. A significant portion (11 percent) reported mild asthma attacks at least weekly, while 35 percent required oral corticosteroids or hospitalization at least annually.

The team interviewed 1,284 parents of children with asthma in six countries (Canada, Greece, Hungary, the Netherlands, South Africa and the UK) and 943 of the children themselves. The results highlight the impact of frequent morbidity on daily life: Asthma restricted the child’s activities in 39 percent of families and caused 70 percent to change their lifestyle. The article was published in the European Respiratory Journal.

One reason for the significant morbidity may be parental misperception of asthma control. Parents in the study tended to underestimate the severity of their child’s asthma while overestimating the level of control. While 73 percent of parents described their child’s asthma as mild or intermittent, 40 percent of children/adolescents had C-ACT scores ≤19, indicating inadequate control. In addition, even fewer (14.7%) achieved complete control as defined by the more stringent Global Initiative for Asthma (GINA) guidelines.

Parent misperception of control in childhood/adolescent asthma: the Room to Breathe survey

W.D. Carroll, J Wildhaber and PLP Brand

Q&A with The Commonwealth Fund

I recently spoke with Sarah Klein from The Commonwealth Fund, one of the leading private foundations focused on healthcare research and quality.

Our Q&A – about Asthmapolis and the potential of mobile technology to improve the quality of care and public health – is published in their Quality Matters newsletter this month. Read more »

In addition, the newsletter has another article on apps for health care quality improvement that is well worth reading.

Providers have proven eager adopters of health care “apps,” the software applications used on cell phones and other mobile devices to perform specific tasks, such as charting data points or aggregating information. Apps can be easily integrated into providers’ workflow, delivering information when and where they need it. Disease management apps, in particular, can improve communication between patients and providers and promote adherence to recommended care. Still, for apps to achieve their potential, they will need to be factored into reimbursement models and meet clear clinical needs. Read more »

Global Asthma Report 2011

Worldwide, 235 million people have asthma. Although effective treatment is available, many people with asthma, especially in low- and middle-income countries, are unable to access or afford it.

A new report, and accompanying website, released today by the International Union Against Tuberculosis and Lung Disease (The Union) and the International Study of Asthma and Allergies in Childhood (ISAAC) highlights the issues surrounding asthma in the global context.

The report, authored by some of the leading asthma experts around the world, is described as an atlas of known “causes and triggers of the disease, the global prevalence, the progress being made and the significant challenges today and for the future.”

I expect to be posting more as I read through the report, but the key findings highlighted by the press release are the following:

  • ISAAC data show that asthma in children is increasing in low- and middle-income countries, where it is more severe than in high-income countries.
  • The World Health Survey found an 8.2% prevalence of diagnosed asthma among adults in low-income countries and 9.4% in the richest countries. Middle-income countries had the lowest prevalence at 5.2%.
  • Smoking and secondhand smoke are two of the strongest risk factors — and triggers — for asthma.
  • Although asthma is frequently thought of as an allergic disease, this does not apply to all cases, and the non-allergic mechanisms need to be the focus of more research.
  • Surveys around the world found asthma treatment falling short, with few patients consistently using the inhaled corticosteroids that effectively manage the disease.  For example, the Asthma in America survey found only 26.2% of patients with persistent asthma used these medicines.
  • While many countries now have asthma management guidelines, many health workers do not know how to diagnose or treat asthma and health systems are not organised to handle this type of long-term, chronic disease.
  • A 2011 Union survey of the pricing, affordability and availability of essential asthma medicines in 50 countries found dramatic variations. For example, one generic Beclometasone 100µg inhaler in a private pharmacy cost the equivalent of nearly 14 days’ wages — and a patient with severe asthma requires about 16 of these inhalers per year.
  • The Asthma Drug Facility established by The Union has been able to bring down the cost of treating a patient with severe asthma to approximately US$ 40 per year.
  • When people do not have access to ongoing care, they often end up in emergency rooms and hospitals — a costly and unnecessarily disruptive process for all involved.
  • Although economic data are unavailable for almost all low-income countries, a 2009 systematic review found annual national costs (in 2008 US dollars) ranging from $8,256 million in the United States to $4,430 million in Germany.
  • Success stories from five high- and low-income countries that have implemented asthma management activities show that well-managed asthma saves money – and enables people to get on with their active lives. For example, in Finland, the mortality, number of hospital days and disability due to asthma fell 70–90% between 1994 and 2010 and a conservative estimate of the savings was $300 million in 2007 alone.

Obviously the economic data on costs in the US needs to be updated. A recent CDC report calculated direct economic costs nearly six times higher. Nevertheless the main message remains valid. There is an urgent need to overcome the frustrating gap between what we should be able to do, and what we’ve so far been able to accomplish. As articulated by Nils Billo, Executive Director of The Union:

The tools to treat asthma are already available – there is no reason to delay. Moreover, when asthma is not diagnosed, not treated or poorly managed, and when people can not access or afford treatment, they regularly end up having to miss school or work, they are unable to contribute fully to their families, communities and societies, they may require expensive emergency care, and everyone loses.  The obstacles to well-managed asthma can be overcome.  Asthma is a public health problem that can – and should be addressed now.

 

Race, socioeconomic status and lung function

For the last two years, John Mullahy and Sheryl Magzamen and I have been working on an analysis of the apparent racial differences in normal lung function and the contribution of socioeconomic status to those patterns.

Our goal was to investigate whether alternative statistical methods (quantile regression) might better illustrate the effects of educational achievement (as a proxy for SES) across the entire distribution of lung function in a population, and to understand variability across racial/ethnic groups. In addition, we wanted to understand how sample selection criteria used to generate reference equations for normal lung function might alter estimates of the effect of socioeconomic status.

The resulting paper, Understanding Socioeconomic and Racial Differences in Adult Lung Function, has just been published in the current (September 2011) issue of the American Journal of Respiratory and Critical Care Medicine, along with an editorial (FEV1 in the Suburbs) authored by Peter Wagner of the Univ of California San Diego. The Univ of Wisconsin School of Medicine and Public Health has also issued a press release, with the following great quote from John about sample selection:

Seemingly subtle issues in how samples are constructed and data are analyzed ultimately have important implications for how we understand the roles of race and socioeconomic status as determinants of respiratory health.

 

Disease labels in national surveys – the case of COPD

The new CDC Framework for COPD Prevention, much better thought of as a well developed agenda for applied public health, estimates that half of the people with COPD in the US have not been diagnosed.

The report – developed by a group of experts during a workshop in 2010 – proposes first among its four goals that the US improve the collection, analysis, dissemination, and reporting of COPD-related public health data. In particular, it highlights the need to develop and initiate new data collection within existing surveys, an obviously efficient and valuable objective. It recommends:

Refining the definition of COPD in existing surveillance systems by adding the terms ‘COPD,’ and ‘chronic obstructive pulmonary disease’ to the currently used ’emphysema’ and ‘chronic bronchitis’ terms.

This sentence brought me to a stop, frustrated that this change still needs to be made.

Our public health agencies must soon recognize some basic limitations of our surveillance systems: If they attempt to assess prevalence by asking people to report a physician diagnosis of some disease, they have no choice but to coevolve with diagnostic and popular nomenclature.

In this case, COPD has now been the dominant label for several years. Changes in awareness and labeling have been driven by many forces, including an improved understanding of the pathophysiology and natural history of the disease. But also by:

  • the rise of national organizations with names like the COPD Foundation, which was founded way back in 2004,
  • the marketing and education efforts of our own federal agencies (see the NHLBI page for example, or, well, the title of the report, which one downloads from the COPD page at CDC),
  • an increase in direct to consumer marketing of pharmaceuticals for the disease (such as this page for a branded formulation of tiotropium).

If we expect accurate and reliable prevalence estimates, we need to require that national surveys such as BRFSS, NHANES, and NHIS match the terminology in circulation. It is no longer acceptable to field surveys characterized by diverging epidemiological measures and popular labels.

A quick look at search frequency for COPD and emphysema (via Google Trends) shows that, in the US, search for COPD is more than twice as frequent compared to that for emphysema, and has been since about 2007. The dramatic, transient increases in search frequency for emphysema, which followed highly-publicized celebrity deaths attributed to emphysema (Johnny Carson in January of 2004) and mis-attributed to emphysema (Amy Winehouse in 2008), underscore the dynamic popular landscape of disease labels but also show the resilience of the longer-term trend.

Moreover, there are not large regional variations here; search for COPD (in blue) dominates that for emphysema (in red) across all regions of the country.

Inertia in the methods of our national surveys undermines the utility and value of their resulting estimates and, while it may make for more stable measures, assures that they are steadily providing information about an increasingly inappropriate category.

Young Epidemiology Scholars (YES) competition closes

Having been a judge in this competition for the past few years, and a believer in the value of epidemiology as an important and underused discipline in education, I’m disappointed to see this program, funded by RWJF and run by the College Board, come to an end. For a great perspective on it’s potential – be sure to read David Fraser’s essay “Epidemiology as a Liberal Art“.

The press release announcing the closure of the program has some statistics on the reach and influence it achieved.

The April 2011 Young Epidemiology Scholars (YES) Competition in Washington, D.C., was the eighth and final YES Competition. YES was launched in 2003 by the Robert Wood Johnson Foundation and the College Board to encourage high school students nationwide to apply epidemiological methods to the investigation of public health issues and inspire the brightest young minds to enter the field of public health. Nearly 5,000 students from all 50 states have participated in the YES Competition, which has awarded $3.7 million in college scholarships to 976 students, including this year’s participants. YES has been successful in inspiring student interest in and understanding of public health and epidemiology: 75 percent of YES Regional Finalists who have declared an undergraduate major are pursuing a health and/or science related major.

For me, YES was also about an annual trip to DC, to meet with a fantastic group of scientists from universities and public health. We all brought high expectations but more often we sat together in respect and satisfaction at great work.

AAAS session on anthropology and global health

Earlier this year I had the opportunity to speak at the American Association for the Advancement of Science (AAAS) annual meeting in Washington DC. I was part of a panel on anthropology and public health organized by anthropologist Cynthia Beall from Case Western Reserve University.

Kathleen Barnes (Johns Hopkins) presented research examining how allergic asthma may be a by-product of an evolved immunological defense against extracellular parasites. She showed some very interesting genetic epidemiological evidence that mutations associated with IgE (and the development of allergic disease, therefore) may be protective against schistosomiasis infestation. Her works is classic evidence for the hygiene hypothesis, to the extent that we focus only on allergic asthma. More importantly, though, it provides an all too rare view into what research into the primary determinants of asthma at the population level actually looks like. In other words, what changes (with some evolutionary probability) are occurring to shape the overall prevalence of asthma in a population. [Some great coverage of Kathleen’s talk]

My talk weaved together research on asthma over the past 15 years in India, Wisconsin and among Native Americans in the US Southwest and Alaska, to highlight variability in the diagnosis of asthma among physicians and in the management of the disease day-to-day by local populations. The Univ of Wisconsin issued a press release on my talk here, and Rachael Rettner, of MyHealthNewsDaily, wrote one of the better articles on my presentation.

Anna Di Rienzo, from the University of Chicago, summarized her work scanning the human genome for genetic adaptations to environments and climates. Many alleles she discovered overlap with those identified by recent genome-wide association studies, including polymorphisms associated with pigmentation, autoimmune diseases, lipid levels and type 2 diabetes.

Pete Zimmerman, from Case Western Reserve University School of Medicine, reported some very interesting findings from Madagascar, where something important is happening with the malaria parasite, P. vivax, to permit it to infect Duffy blood group-negative people, who have formerly been resistant to P. vivax infection.

Margaret (Peggy) Bentley drew from her incredible trove of filmed infant feeding observations from around the world to talk about how to improve growth and nutrition in different cultural and economic settings.

Unfortunately, Marcia Inhorn, who was supposed to be on the panel was unable to make it. She was scheduled to give a talk on assisted reproduction in the Middle East.

I really enjoyed the meeting and the time we got to spend together as a group. I love seeing anthropologists like my colleagues on this panel working deep in complex, meaningful fields, and yielding great progress through cross-pollination, unending curiosity and observation.