Meeting Report:
Applying Genetics and Public Health Strategies to Primary Immunodeficiency Diseases

November 8-9, 2001 ~ Atlanta, Georgia
Prepared by: Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention Department of Health and Human Services


Speakers from organizations and agencies that have developed educational and outreach efforts targeted to patients, providers, and the public discussed their activities, reviewed strategies and successes, identified lessons learned, and proposed recommendations for further education and communication efforts to enhance early identification and awareness of PI diseases.

National Institute of Health Educational Outreach Efforts
Dr. Allan Lock, NIH

At NIH, the National Institute on Allergy and Infectious Diseases (NIAID) is the lead institute supporting research related to PI diseases. Other institutes that are involved at lesser levels include the National Institute of Child Health and Human Development (NICHD), NHGRI, the National Cancer Institute, and the Office of Rare Diseases in the NIH Office of the Director. Education and outreach activities are targeted to three audiences.

  • Investigators conducting basic, clinical, and epidemiologic research–Activities include conferences and workshops conducted by NIAID and programs conducted in collaboration with other institutes. The NHGRI Web site includes helpful resources and links.
  • Physicians and other health care professionals–NIH provides Internet-based, videoconference, and television health care network programming to front-line practitioners. These include Centernet Roundtable presentations and Clinical Center Grand Rounds, all of which provide Continuing Medical Education (CME) credit.
  • Private organizations and individuals–NIH educates foundations, individuals, and groups about research related to PI diseases. The NIAID Web site includes helpful links and resources, including the booklet Primary Immunodeficiency Diseases: Discovering Causes, Improving Lives, Working Toward a Cure.

NIH has not systematically analyzed or evaluated its education and outreach activities. NIH looks forward to collaborating with CDC to develop innovative strategies to improve outreach efforts.

Mount Sinai’s STRIDE Project
Dr. Barbara Brenner, Mount Sinai Medical Hospital

PI diseases are not recognized with the same frequency among persons in ethnic and racial minority populations and economically disadvantaged communities as in white populations. The reasons for these disparities are unknown, but persons from these populations are hypothesized to be under-diagnosed because of poor access to medical care, lack of continuity with medical providers, and absence of a validated and widely used screening protocol or tool that can be used by physicians and other health professionals who serve ethnic and racial minority populations. STRIDE is being conducted at the Mount Sinai School of Medicine (2000-2003) to: (1) devise a method of screening large patient populations of predominantly Hispanic and African-American ethnic and racial origin, (2) test persons who have codes suggestive of immune defects to determine whether this screening method will work, and (3) develop and implement a Community Education Initiative on Primary Immunodeficiency that will increase detection, diagnosis, and treatment in clinical settings with large concentrations of minority patients.

The Community Education Initiative is designed to implement a community and professional education program targeted to providers who deliver health care to Hispanic and African-American populations. The goals are to (1) increase the early detection of PI diseases in racial and ethnic minority populations; (2) pilot and implement a program of professional education, linked to a clinical pathway for evaluation, diagnosis, and treatment, in clinical and community settings with large numbers of racial and ethnic minority patients; and (3) engage the active participation of health care providers in the community with hospital-based physicians to develop an educational curriculum and a network and infrastructure for case finding and referrals.

The Community Education Initiative is being piloted with medical providers and health professionals who practice in East Harlem, a primarily Hispanic and African-American community in New York City. A key factor in the success of the initiative is the early and active collaboration of researchers and hospital-based clinicians who are treating PI diseases with community health providers (physicians, physician extenders, nurses). The initiative addresses three main research questions:

  • Does an existing community infrastructure or network exist that supports continuing education, professional collaboration, and effective referrals?
  • What are the points of entry and access to care in the community?
  • What are the critical factors in establishing an effective professional education program and community case-finding and referral network?

Investigators began by conducting an inventory of health care providers, seeking and receiving advice from an established community health coalition, and receiving a grant and forming an advisory board of community and hospital-based health professionals. Initial research identified several barriers to provider participation: (1) epidemic levels of asthma, HIV infection, and other health problems that superceded PI diseases in importance, (2) heavy patient caseloads and lack of time for continuing education, (3) historically poor working relationships between community- and hospital-based providers, (4) ineffective referral systems, and (5) skepticism about universal access to specialty care if a diagnosis is made.

To address these barriers, the researchers have spent the past 10 months developing strong working relationships and referral systems in the community, taking continuing education outside the walls of the medical center and into the community, offering CME credit for seminars, and inviting community-based providers to be research partners. The program has reached approximately 200 providers, and the patient population has become more divers–from 3 percent African American and Hispanic to 12.2 percent. Representation from all minority groups has increased from 8 percent to 19 percent.

Jeffrey Modell Foundation Physician Education Programs and Outreach Efforts
Mr. Fred Modell, Jeffrey Modell Foundation

Mr. Modell reported on the education and outreach activities of the Jeffrey Modell Foundation (JMF) and proposed a strategy for applying elements of the JMF model to future efforts. In 2000, JMF launched a physician education and public awareness campaign to ensure the earliest possible detection and evaluation of PI diseases. To support the campaign, the Foundation raised $1 million from industry and donors and received funding from NIH. The campaign targets physicians and health professionals (e.g., pediatricians, family practitioners, sub-specialists, school nurses, and staff of emergency departments, community health centers, managed-care organizations, and daycare centers), parents, and the general public.

In Phase I, Opinion Research Corporation International conducted a baseline national survey of consumer awareness and produced an extensive report documenting a lack of knowledge about PI diseases among the general public. Of the random sample of 1,014 Americans surveyed, 33 percent reported that they knew about PI but none could name a specific PI disorder. Sixty-four percent of persons with at least some college education incorrectly identified HIV infection as a PI disease. Significantly, one third of respondents reported that they knew someone who is either chronically ill with recurrent infections or has more than two of the 10 warning signs of PI disease.

Phase 2 consists of the NIH-funded Mount Sinai School of Medicine project discussed earlier, focusing on PI diseases in minority and underserved populations. Related activities include:

  • Redesign of the 10 warning signs poster.
  • Distribution of the new poster to 50,000 pediatricians nationwide with imprimaturs of NIH and the pharmaceutical industry.
  • Distribution of the poster to every comprehensive cancer center nationwide.
  • Media briefing about the collaborative public awareness campaign and the STRIDE project.
  • Video news release aired in 14 major television markets nationwide.
  • Placement of syndicated news stories in newspapers and in radio and television markets.
  • Convening of physician education symposia, including the first-ever Symposium on PI and Cancer sponsored by JMF and NIH.
  • Expansion and enhancement of JMF’s Web site, icon, and development of the National Primary Immunodeficiency Resource Center, an upcoming online library of resources and interactive information/education forum.

Anecdotal evidence documents the success of these efforts. Monthly visits to the Web site increased from 75,000 before the campaign’s launch to 125,000-150,000 per month since then. The average duration on the Web site is >11 minutes. Calls to the national hotline, which provides information and referrals, have also doubled in volume.

CDC’s partnership with JMF includes the convening of this meeting and the development of a scientific and administrative team committed to the PI agenda. Under the leadership of Dr. Mary Lou Lindegren, Senior Medical Officer, the team includes Dr. Lisa Kobrynski and Mr. Tim Baker. CDC distributed 16,000 posters to 31,000 health departments, with a cover letter from Dr. Richard Jackson, to call attention to undiagnosed PI cases and request the assistance of the public health community in increasing awareness.

At the Congressional level, both the House and Senate appropriations subcommittees on health encourage and support the collaboration. Language from the House committee expresses concern about undiagnosed and misdiagnosed PI diseases, documents an awareness of the collaborative education and awareness campaign, and strongly urges CDC to expand its efforts to advance this collaboration. In the Senate, the committee has reviewed the education and awareness campaign and advocates a deep commitment by CDC to ensure and enhance the campaign’s success. The Surgeon General has also pledged his support.

Mr. Modell noted that this surge of enthusiastic support presents an unprecedented window of opportunity for advancing the campaign and boosting awareness of PI diseases. He recommended 12 components for continued emphasis:

  • Baseline surveys of selected target groups for use in measuring effectiveness.
  • Distribution of the 10 warning signs display posters to these target groups, to coincide with Primary Immunodeficiency Awareness Week, April 21-28, 2002.
  • Information booths at major teaching hospitals and a satellite media tour to coincide with Primary Immunodeficiency Awareness Week.
  • Series of regional physician symposia, with CME credit.
  • Interactive satellite symposia beamed to national physician meetings and medical schools.
  • NIH Clinical Center Grand Rounds beamed nationally.
  • Publication of a new brochure for parents of children with newly diagnosed PI disease.
  • Development of a patient/family starter kit for patients and families with newly diagnosed PI disease (brochure, 10 warning signs, resource guide, template letters to schools and employers, kids’ club storybook, new video).
  • Update or reprint of NIH material.
  • Disney-produced public service announcement with Sarah Ferguson as spokesperson.
  • Advertisements in medical journals and parents’ magazines encouraging physician referrals to specialists.
  • Web site enhancement.

The Foundation’s implementation of each of these components in a small way comprises a model, or prototype, that can be replicated. JMF would like to move ahead with at least some of these components, measure their effectiveness formally, and meet again to discuss next steps.

Immune Deficiency Foundation Physician Education Programs
Dr. Jonathan Goldsmith, Immune Deficiency Foundation (IDF)

IDF (http://www.primaryimmune.orgexternal icon) is the national patient organization dedicated to improving the diagnosis and treatment of persons with PI diseases through research and education. Communication and education programs are central to IDF’s mission. IDF actively promotes educational efforts in the professional community to enhance knowledge about PI diseases. In addition to fellowship and grant programs, IDF has developed three initiatives that provide education and outreach to professional audiences.

To educate physicians and allied health professionals about PI diseases, IDF launched the Consulting Immunologist Program in November 1998. The program provides health care providers and patients and families with cost-free second opinions to clinical questions within 48 hours. IDF’s Medical Advisory Committee chooses expert immunologist-consultants. The program is publicized through direct mailings and notices in professional periodicals. Telephone and e-mail are used to receive requests for information and provide answers to questions. The program has received >300 requests. Of these, 60 percent were from allergy/immunology specialists, and 10 percent were from outside the United States. Commonly asked questions relate to diagnostic tests (referral laboratories, interpretation, molecular diagnosis), use of vaccines, and use of intravenous immune serum globulin (IGIV). Anecdotal evaluation of the program has been enthusiastically positive.

The LeBien Visiting Professor Program was initiated in 1998 to respond to self-identified needs by physicians and allied health professionals for education on PI disorders. IDF’s Medical Advisory Committee identifies potential professors. Grand Rounds and related programs have been given at 41 sites in the United States and Canada. The host site obtains CME approval, and IDF extends invitations to health care professionals within a 30-mile radius. The broad menu of topics ranges from PI diseases in adults to prospects for cytokine therapy.

IDF recently initiated a CME program for physicians and nonphysician providers. The Clinical Presentation of Primary Immune Deficiency Diseases is Internet-based, with CD-ROM availability, and will feature clinical case studies and accompanying learning modules. A consultant has been identified to coordinate a multimedia presentation. The interactive program will offer relevant education at the convenience of the provider.

NORD’S Databases and Guide to Rare Diseases
Mr. Ed Gruson, National Organization for Rare Disorders (NORD)

NORD is a federation of more than 140 nonprofit voluntary health organizations dedicated to helping persons with rare disorders and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through education, advocacy, research, and service. NORD provides information about rare diseases (causes, symptoms, related conditions, standard therapies, research) and support groups and other sources of help through a Web site and publications. NORD also provides research funding, administers medical assistance programs, provides advocacy for legislation, helps researchers identify patients for clinical trials, and offers a networking service for patients and families affected by rare diseases.

The NORD Guide to Rare Diseases, scheduled for publication in spring 2002, is a resource for family physicians designed to encourage earlier diagnosis. The book includes entries, written by physician experts, on approximately 800 rare diseases. Each entry covers presentation, etiology, differential diagnoses, standard and investigational therapies, and references. The NORD Web site, http://ww.rarediseases.orgexternal icon, was originally designed for patients and families but is also used by medical professionals, social workers, teachers, and others who assist affected families. The Web site includes three searchable databases: Rare Diseases (>1,100 reports), Organizations (>2,000 organizations), and Orphan Drugs (approximately 1,000 treatments). All reports are reviewed by physician experts and updated at least once a year. The Web site serves approximately 15,000 visitors per week and provides an average of 2,200 database searches per day.

Discussion: Lessons Learned, Recommendations, and Next Steps for Future Education and Communication Efforts

The participants discussed the presentations on education and outreach efforts and considered lessons learned and next steps. They were first reminded of the basic components of evaluation research for any education or outreach effort. Formative evaluation research is conducted in advance of education and includes testing of pre-existing knowledge, defining concepts that comprise the communication messages, developing the communication messages, testing messages with the target audience for clarity and motivation, and disseminating messages as recommended by the target audience. Process evaluation research consists of tracking activities, assessing success, evaluating the reach to the audience, tracking response to the message, and improving the program on the basis of findings. Outcome evaluation research, the final piece, consists of demonstrating results of the program, providing evidence of need, improving and revising the program on the basis of results, and encouraging participation to create public demand.

The ensuing discussion centered on education and outreach audiences, messages, and gaps and yielded these main points:

Audiences–Target audiences include the general public, informed public, physicians, school nurses, daycare providers, and policymakers. These can be divided into primary and secondary audiences.

Messages–Different audiences require different messages (e.g., broad education for the general public, more targeted messages for others).

  • Essential messages for providers are that: (1) newborns with SCID are high priority and need immediate referral to tertiary centers, and (2) other disorders are not as urgent but require immunologic work-up for early detection.
  • Experiences from implementation of HIV education efforts document the difficulty in changing practices and behaviors. Didactic messages have some effect, but behavior change requires an interactive component and enabling materials (e.g., 10 warning signs, work-up algorithm)
  • Audience testing of educational messages is essential to assess reading level and understanding of concepts.

Gaps–Primary immunodeficiency is a chronic illness. Networks are needed to provide ongoing educational support in communities.

Page last reviewed: June 15, 2009