Scott Bowen

Prevalence and Morbidity of Primary Immunodeficiency Diseases, United States 2001–2007

PurposeFew studies have estimated population prevalence and morbidity of primary immunodeficiency diseases (PIDD). We used administrative healthcare databases to estimate the prevalence of PIDD diagnoses in the United States from 2001 to 2007.MethodsMarketScan databases compile claims from commercial health insurance plans and Medicaid, recording individual diagnoses for outpatient encounters and hospital stays. We used a cross sectional survey to estimate prevalence of PIDD using related ICD-9 codes (279.0, 279.1, 279.2, 279.8, 279.9, 288.1 and 288.2). Persons with secondary immunodeficiency diagnoses were excluded from analysis.ResultsBetween 2001 and 2007, prevalence of any PIDD diagnosis increased from 38.9 to 50.5 per 100,000 among privately insured and from 29.1 to 41.1 per 100,000 among publicly insured persons. B cell defects predominated. Prevalence was more than twice as high among Whites as among Blacks or Hispanics.ConclusionIn this large database, we found a higher prevalence of diagnosed PIDD than has been reported previously from registries. Increased awareness may have contributed to the increasing prevalence.

A Decade of Public Health Genomics in the United States: Centers for Disease Control and Prevention 1997–2007

Since 1997, the Centers for Disease Control and Prevention (CDC) has collaborated with numerous partners to develop and chart the course of the multidisciplinary field of public health genomics in the USA and globally. During this period, CDC has developed major initiatives for the appropriate integration of genomics into public health research, policy and programs. In this paper, we review briefly the progress in public health genomics made over the past decade in the USA, including population research, the human genome epidemiology network (HuGENetTM), the evaluation of genomic applications in practice and prevention (EGAPP), the family history public health initiative, and efforts in building the public health genomics capacity. We also outline a vision for public health genomics for the next decade.

Primary immunodeficiency diseases: Practice among primary care providers and awareness among the general public, United States, 2008

Purpose: Primary immunodeficiency disorders (PIDDs) represent a class of genetic diseases of the immune system. Delayed primary immunodeficiency disorder diagnosis leads to increased morbidity and mortality. This study assessed current primary immunodeficiency disorder practice among physicians and awareness among the public.Methods: Primary immunodeficiency disorder practice and awareness data were collected using national surveys of physicians (DocStyles) and the public (HealthStyles).Results: Physician respondents (n = 1250) were family practitioners (41%), internists (39%), and pediatricians (20%). Overall, 32% of physicians had diagnosed, treated, or referred a patient with primary immunodeficiency disorder in the last 5 years. Physician specialty was the only significant predictor of having a patient with primary immunodeficiency disorder in unconditional logistic modeling (pediatrician odds ratio = 4.4; internist odds ratio = 1.5; and family practitioner odds ratio = referent). When a possible primary immunodeficiency disorder case presented, 81% of physicians performed laboratory testing and 77% referred the patient to a specialist. Of the general population surveyed (n = 5399), 40% were aware of primary immunodeficiency disorder. Those respondents were more likely to be older, female, white, married (ever), more highly educated, with a higher income level. Most people learned about primary immunodeficiency disorder from media outlets (64% television/radio and 41% magazine/newspaper).Conclusion: Additional primary immunodeficiency disorder educational efforts, which target both physicians and the public, may be needed because increased primary immunodeficiency disorder awareness may lead to earlier diagnosis and less morbidity and mortality.

Genomics in Public Health: Perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC).

The national effort to use genomic knowledge to save lives is gaining momentum, as illustrated by the inclusion of genomics in key public health initiatives, including Healthy People 2020, and the recent launch of the precision medicine initiative. The Office of Public Health Genomics (OPHG) at the Centers for Disease Control and Prevention (CDC) partners with state public health departments and others to advance the translation of genome-based discoveries into disease prevention and population health. To do this, OPHG has adopted an “identify, inform, and integrate” model: identify evidence-based genomic applications ready for implementation, inform stakeholders about these applications, and integrate these applications into public health at the local, state, and national level. This paper addresses current and future work at OPHG for integrating genomics into public health programs.

Strategies, actions, and outcomes of pilot state programs in public health genomics, 2003-2008.

State health departments in Michigan, Minnesota, Oregon, and Utah explored the use of genomic information, including family health history, in chronic disease prevention programs. To support these explorations, the Office of Public Health Genomics at the Centers for Disease Control and Prevention provided cooperative agreement funds from 2003 through 2008. The 4 states’ chronic disease programs identified advocates, formed partnerships, and assessed public data; they integrated genomics into existing state plans for genetics and chronic disease prevention; they developed projects focused on prevention of asthma, cancer, cardiovascular disease, diabetes, and other chronic conditions; and they created educational curricula and materials for health workers, policymakers, and the public. Each state’s program was different because of the need to adapt to existing culture, infrastructure, and resources, yet all were able to enhance their chronic disease prevention programs with the use of family health history, a low-tech “genomic tool.” Additional states are drawing on the experience of these 4 states to develop their own approaches.

A knowledge base for tracking the impact of genomics on population health

Purpose:We created an online knowledge base (the Public Health Genomics Knowledge Base (PHGKB)) to provide systematically curated and updated information that bridges population-based research on genomics with clinical and public health applications.Methods:Weekly horizon scanning of a wide variety of online resources is used to retrieve relevant scientific publications, guidelines, and commentaries. After curation by domain experts, links are deposited into Web-based databases.Results:PHGKB currently consists of nine component databases. Users can search the entire knowledge base or search one or more component databases directly and choose options for customizing the display of their search results.Conclusion:PHGKB offers researchers, policy makers, practitioners, and the general public a way to find information they need to understand the complicated landscape of genomics and population health.Genet Med 18 12, 1312–1314.

Introduction to the 4th National Conference on Genomics and Public Health.

No abstract available Copyright

Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework

Public health plays an important role in ensuring access to interventions that can prevent disease, including the implementation of evidence-based genomic recommendations. We used the Centers for Disease Control and Prevention (CDC) Science Impact Framework to trace the impact of public health activities and partnerships on the implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Lynch Syndrome screening recommendation and the 2005 and 2013 United States Preventive Services Task Force (USPSTF) BRCA1 and BRCA2 testing recommendations.The EGAPP and USPSTF recommendations have each been cited by >300 peer-reviewed publications. CDC funds selected states to build capacity to integrate these recommendations into public health programs, through education, policy, surveillance, and partnerships. Most state cancer control plans include genomics-related goals, objectives, or strategies. Since the EGAPP recommendation, major public and private payers now provide coverage for Lynch Syndrome screening for all newly diagnosed colorectal cancers. National guidelines and initiatives, including Healthy People 2020, included similar recommendations and cited the EGAPP and USPSTF recommendations. However, disparities in implementation based on race, ethnicity, and rural residence remain challenges. Public health achievements in promoting the evidence-based use of genomics for the prevention of hereditary cancers can inform future applications of genomics in public health.