Strategic Plan for Reducing Health Disparities (2000)

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


The National Human Genome Research Institute
Strategic Plan for Reducing Health Disparities

Specific Goals

NHGRI Mission

The overall mission of the National Human Genome Reserch Institute (NHGRI) is to understand the structure and function of the human genome and the role it plays in health and disease. To that end, the NHGRI supports the Human Genome Project (HGP), which is developing tools for improving the effectiveness of research on human genetics. NHGRI also supports research that applies the tools produced by the HGP to studies of specific diseases.

The vast majority of human genetic information is shared by all people. Indeed, any two individuals share 99.9 percent of their DNA sequence. Similarly, most genetic variation is shared by all racial, ethnic and cultural groups. However, the small differences that do exist include many medically important variations. Thus, while much of human genetics research will apply broadly to all groups of people, regardless of which individuals are studied, it is also important to study the genetic factors that underlie health disparities among different groups. Equally important is to study how different groups perceive genetics and what cultural barriers may stand in the way of accessing or utilizing genetic information effectively in health care.

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Process for Arriving at this Strategic Plan

From its inception NHGRI has been concerned about including individuals from various groups in its activities. As the institute has grown in size and complexity the need for this has become even more imperative and a variety of initiatives have been started and continue to evolve to address this need. This strategic plan brings these diverse activities into a coherent framework that poises the NHGRI to move forward effectively.

In 1998, when NHGRI started an initiative to study human genetic variation, an NHGRI staff group was convened to make recommendations to the director about how the institute should proceed to assure that diverse populations were included in its research programs and other activities. Several goals were identified: to establish meaningful interactions between NHGRI and diverse populations: to support research on the ethical, legal, social and health policy issues involved in the use of information about human genetic differences; and to increase the knowledge about genetic variation and its implications among diverse groups, researchers and policy makers. Since that time, the institute has had discussions with many groups about these goals and has taken a number of steps toward meeting them.

To expand and strengthen these activities further, the NHGRI has arranged for Dr. Clifton Poodry, a prominent Native American geneticist and director of the NIGMS Minority Opportunities in Research Division, to work with NHGRI on a part time detail. Dr. Poodry will be advising NHGRI on how it can move forward on health disparities research in an effective and comprehensive manner that is inclusive of a broad diversity of groups and issues.

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Specific Goals

GOAL 1. To study genetic factors that contribute to diseases that disproportionately affect minority populations.

There is a paucity of standardized, population-based data on genetic and epidemiologic factors contributing to the disproportionate increase in complex diseases, such as cancer and diabetes, in African-Americans and other minority populations. In view of the present lack of clarity concerning genes involved in determining susceptibility to complex diseases and their disproportionate effect in these populations, NHGRI has launched several initiatives that collect families and population-based information in a way that maximizes the participation of minority physicians, research scientists, and the community. The identification of genes underlying susceptibility to common diseases in minority populations and an understanding of the function of these genes and their interaction with environmental factors will lead to improved management and treatment of the diseases.

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Initiative 1. Howard University and NHGRI Research Collaboration

NHGRI has initiated and proposes to continue two studies under this initiative. Both studies are carried out in collaboration with the National Institutes of Health (NIH) Office for Research on Minority Health, which also provides the major funding.

In 1995, as part of the Visiting Investigators Program, Dr. Georgia Dunston of Howard University spent a year's sabbatical in the laboratory of Dr. Larry Brody to work on genotyping of samples from African-American women with breast cancer. After Dr. Dunston returned to Howard University, this collaboration was extended in order to investigate the genetic contribution to susceptibility to type 2 diabetes. In May 1995, a public meeting was held to discuss the feasibility of a multi-center study of the genetics of type 2 diabetes in West African affected sib pairs. Experts in diabetes, international studies, anthropology, and genetics attended the meeting along with interested lay people. The result of this meeting was a highly successful study now known as the AADM (Africa America Diabetes Mellitus) Study. Encouraged by the success of this project, NHGRI scientists next turned their attention to developing plans for the study of the genetics of hereditary prostate cancer in African-American families. This too has led to a vibrant collaboration with colleagues, most of whom are themselves African-American, around the United States. These two projects are described below.

Africa America Diabetes Mellitus Study (AADM)
Scientists at Howard University and the NHGRI have coordinated a multi-site study to recruit sibling pairs, i.e. full brothers and sisters, who are both affected with non-insulin dependent diabetes mellitus. The recruitment sites are located in West Africa, which is thought to be the area of origin for many African-Americans. West Africa was chosen because of the presumed genetic similarity of the population to African-Americans as well as the presumed lesser importance, in West Africa, of dietary and other non-genetic contributions to the disorder.

The pilot phase of the study was completed in 1999 with the recruitment of 75 affected sib pairs. The full scale study will be completed in the next few months, resulting in the collection of a total of 400 affected sib pairs and 200 normal controls. DNA from each of the participants will be analyzed along with biochemical markers and information about the clinical and environmental status of the participants. A genome-wide scan will be performed at the Center for Inherited Disease Research beginning in the Summer of 2000. The analysis of the data from this phase of the study will be performed jointly by Howard University and the NHGRI. Although the project is not yet at the stage where results are available to be reported here, there are two significant achievements worth noting. First, the sites were able, despite formidable logistic barriers, to recruit the requisite number of sib pairs and successfully send both blood specimens and clinical data to Howard University. Second, the project has resulted in research opportunities for minority residents of the District of Columbia, both at Howard University and at the NHGRI.

African-American Hereditary Prostate Cancer Network
Howard University is coordinating a study intended to identify 100 multiplex African-American families for genetic linkage studies of prostate cancer (at least four males affected with prostate cancer, three of whom are available for testing, as well as at least four other relatives). A consortium of recruitment centers has been organized by Howard and more than 40 families have already been recruited. DNA from blood, along with clinical and pedigree data, will be used for the analysis of the anticipated 240,000 genotypes, to be carried out by an African-American researcher at NHGRI. Prostate cancer is a leading cause of morbidity and mortality in District of Columbia residents as well as in African-Americans in other parts of the country. Preliminary studies suggest that the DNA is of high quality and that the recruitment rate will result in achievement of the goal of identifying at least 100 densely affected families. As with the diabetes study described above, the project has also resulted in research opportunities for minority residents of the District of Columbia, both at Howard University and at the NHGRI.

These studies, which form the nucleus for an evolving National Human Genome Center at Howard University, will continue through the year 2005 or 2006. NHGRI will continue to work with the Office of Research on Minority Health and Howard University to expand and strengthen these efforts.

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Initiative 2: Study of Hereditary Hemochromatosis and Iron Overload Disease in Diverse Populations.

Iron overload is a common disorder affecting between one in 200 and one in 400 individuals. One of the major causes of iron overload is a genetic disorder known as hereditary hemochromatosis. It has been estimated that one in every 400 Caucasians has hereditary hemochromatosis due to genetic mutations in the HFE gene. The genetic contributions to hereditary hemochromatosis in non-Caucasian populations are much less clear. When specific HFE mutations were discovered in 1996, there were some who suggested that screening for HFE mutations should be carried out on a widespread basis. Shortly thereafter, a workshop, co-sponsored by the CDC and the NHGRI, was held on March 3, 1997 to examine the clinical, ethical, legal and social implications of discovery of the gene for hereditary hemochromatosis and the possibility of widespread population-based testing for the disease. The meeting attendees identified a number of areas that would need further exploration before genetic tests for HFE mutations could be considered for use in population-based screening. Some of the biologic questions to be answered were prevalence, penetrance, genotype/phenotype correlations, and the psychosocial impact of such screening. Because of these unanswered questions, participants in the workshop concluded that it would be premature to consider widespread genetic screening for hereditary hemochromatosis.

In order to attempt to answer a number of these questions, NHGRI has been collaborating with the National Heart, Lung, and Blood Institute (NHLBI) to fund a large multi-center study designed to measure iron overload and hereditary hemochromatosis in diverse populations. Recently, five field centers, a coordinating committee, and a central lab have been funded to carry out this project. It is expected that 100,000 participants will be recruited, including 45,000-50,000 from minority communities. This will enable the researchers to answer some of the questions identified above, particularly for individuals from minority communities. This study, which will run through the year 2005, will serve as a model for future large scale studies of genetic screening in diverse communities. NHGRI will continue its efforts to stimulate similar research projects at other NIH Institutes and Centers (IC).

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GOAL 2. To Explore the Ethical, Legal and Social Issues Related to Genetics and Health Disparities.

The ELSI research program has had a long-standing interest in issues surrounding health disparities and has funded a number of important studies in this area. In FY 2000, the ELSI program will fund two new studies relevant to the issue of health disparities:

  1. A study on routes of access to genetic services for rural Kentucky women.
  2. A study on concepts of race and ethnicity in genetics research, with a particular focus on Mexican-American women.

Additional, ongoing ELSI projects with a focus on minority populations and health disparities include studies to:

  1. Examine the socio-political and educational implications of beliefs among African-Americans and European Americans about genetic causes for gender, class and race differences.
  2. Examine genetic counseling strategies with Mexican-origin women.
  3. Evaluate the impact of a culturally sensitive program for colon cancer risk counseling with Pacific Islanders.
  4. Develop a process for engaging minority populations of diverse socioeconomic levels in discussions of issues relating to genome research and technologies.
  5. Develop culturally acceptable materials providing Native American students with information so that they can make informed decisions about genetic issues and about pursuing genetic science careers, including genetic counseling and research.

In July 1997, the ELSI Research Planning and Evaluation Group (ERPEG) was created to evaluate the portfolio of ELSI research grants and develop goals to guide the ELSI research program over the next five years. In February 2000, ERPEG released their final report, which included five goals and a series of programmatic recommendations for enhancing the ELSI research program. ERPEG recognized the importance of continued examination of genetic factors in health disparities and specifically included it as one of the five research goals. The goal on health disparities states that the ELSI research program should "explore how socioeconomic factors, gender, and concepts of race and ethnicity influence the use, understanding, and interpretation of genetic information, the utilization of genetic services, and the development of policy." Several activities have already been initiated in this area, including a 1999 RFA on genetic variation research and a new ELSI program announcement that highlights issues around genetic variation research and health disparities.

To help strengthen this portion of the ELSI portfolio, ERPEG also recommended that, given the significant cultural and societal impact that genetic research and technologies may have on individuals and groups, the ELSI research program should make special efforts to ensure that individuals from diverse communities are well-represented in the development and implementation of all aspects of ELSI research. This recommendation was highlighted by the NHGRI Advisory Council at the February 2000 meeting and will be among the high priority issues addressed by the new ELSI advisory body that will be appointed in the Summer of 2000.

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Initiative 1. Ethical, Legal and Social Implications of Genetic Variation Research.

In FY 1999 the ELSI program issued an RFA to solicit applications for studies that will identify, explore and address the ELSI issues that arise in the course of research on human DNA sequence variation and in the use of the information that may result from this research. Particular emphasis was placed on studies that explore:

  1. How research on human genetic variation can be conducted in an ethically and culturally sensitive way.
  2. How the information that results from this research will interact with current concepts of race and ethnicity.
  3. How cultural and socioeconomic factors influence the interpretation and use of this information.
  4. How this information may influence access to and use of genetic health services by various groups.

Five studies will be funded under this RFA in FY 2000, all of which are relevant to the issue of health disparities. These include:

  1. A study of informed consent and concepts of race in genetic research.
  2. A study of group differences in attitudes toward genetic stigmatization (to be co-funded with NIDCD).
  3. A study of the effects of sequence variation research on concepts of identity (including ethnicity, citizenship, and family).
  4. A study of the potentials and problems of Native American genetic research (to be co-funded with NIEHS).
  5. A study of pharmacogenomics and minority populations (to be co-funded with NIGMS).

In order to increase the scope and pace of this research, the ELSI research program will organize a consortium of supported studies. This will allow researchers to compare findings on issues common to all the projects, reduce duplication of effort, and promote sharing of information. To facilitate such coordination, grantee workshops will be arranged on an annual basis. The initial meeting of the consortium will take place shortly after the grants are funded.

This topic will continue to be of interest to the ELSI program and is highlighted as a high priority research area in the new ELSI program announcement.

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Initiative 2. Influences of Individualized Gene-based Risk Information on Individual Health Behaviors.

As human genetic variation research progresses and as more is learned about the role that genes play in the development of common diseases, it will become possible to provide individuals with gene-based information on their relative susceptibility to a number of adult-onset diseases and disorders. Currently, there is little data on the psycho-social impact of this information on individuals, their families, and their communities or on how this information will influence a number of health behaviors. The ELSI program is planning a new initiative to explore how individualized gene-based risk information on common, mulitfactorial, adult-onset disorders will influence individual health behaviors. Special attention will be given to how the impact of this information may vary among individuals from different sociocultural and socio-economic groups.

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Initiative 3. Involving Diverse Communities in the Design and Implementation of Genetic Research.

In collaboration with NIGMS, the ELSI program is planning a meeting for late FY 2000 entitled "Community Consultation on the Responsible Collection and Use of Samples for Genetic Research." This meeting is an outgrowth of a workshop held in early FY 2000 which resulted in a recommendation for the establishment of special oversight groups in connection with the collection and submission of samples to the NIGMS Human Genetic Cell Repository. The purpose of this meeting is to obtain perspectives and input from members of a variety of communities regarding the issues that such oversight groups, if established, should consider. It is expected that most of the participants at the meeting will be members of identified populations. It is hoped that this information will help determine how best to protect populations from discrimination, stigmatization, and other group harm that might result as a by-product of research using samples identified as to the group of origin.

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Initiative 4. Howard/NHGRI Collaboration on ELSI Research Activities.

The NHGRI collaboration with Howard University also is facilitating the analysis of ethical, legal and social issues affecting African-American participation in genetic research. Historically, African-Americans have not participated in genetic research at the same level as members of other racial or ethnic groups. Investigators at the center are gathering and analyzing data pertinent to examining issues related to participation: access to information, informed consent, community attitudes toward genetic research, and methods to optimize informed decision making regarding participation in genetic research and use of the knowledge gained through this research. It is hoped that this initiative will serve as a model for other collaborative ELSI research projects with minority serving institutions.

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GOAL 3. To increase the diversity of investigators participating in genomic approaches to research; to increase the diversity of students trained in genomic approaches to research; and to expose a greater diversity of students and faculty to genomic approaches to research.

The recruitment and retention of individuals from populations that traditionally have not been involved in the health research enterprise has been an ongoing concern of many in the research community. This is of particular importance for the NHGRI, given the far-reaching implications of genetic information and technologies for both individuals and groups. In addition to participating in traditional NIH recruitment mechanisms, such as the minority supplement and the predoctoral fellowship programs, the NHGRI has initiated a number of new and innovative programs. These include the new K22 program and the ongoing short course in genomics for faculty at minority institutions.

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Initiative 1. Career Award in Genomic or ELSI Research

The NHGRI will initiate a new career award for individuals from disadvantaged backgrounds. This award will provide postdoctoral scientists an opportunity to partner with a mentor for the purpose of pursuing a research and training program of mutual interest. The first two years of the award would be spent in the laboratory of an NHGRI grantee or intramural investigator. The new Centers of Excellence in Genomic Science (CEGS) will be particularly attractive sites for such training. The following three years would be spent in an academic institution of the awardee's choice as a tenure-track faculty member. The awardees would continue to have intellectual ties to the mentors until the end of the award to assure a smooth transition. The award will include funds for the mentor to "buy" a small percentage of her/his time (10 percent or less) for mentoring activities. Given the breadth of research problems encompassed by the NHGRI Programs, this award should be of interest to life and physical scientists pursuing problems in biology with new approaches/tools. Five years should be adequate to get young investigators established on a career path. This program will be open to postdoctoral students in U.S. universities and research institutions and the NHGRI Division of Intramural Research.

This award will also be extended to the ELSI program. In this situation, potential mentors for the first two years of the program would be ELSI grantees.

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Initiative 2. Minority Supplement Program

The Minority Supplement Program has been used to support undergraduate and predoctoral students and faculty for a summer research experience. This mechanism has worked exceptionally well with the University of Washington/Tuskegee University collaboration. The NHGRI proposes greater use of the minority supplement award for graduate students and faculty in Research Centers in Minority Institutions, a National Center for Research Resources supported award mechanism, to work in U.S. universities and research institutions and in the Division of Intramural Research (DIR). The new Centers of Excellence in Genomic Science should offer a greater diversity of research opportunities for investigators.

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Initiative 3. Visiting Investigator Program

The purpose of this program is to increase the number of scientists involved in the DIR. A greater emphasis will be placed on attracting visiting investigators who have an interest in health disparities research. The current focus of the DIR on diseases that disproportionately affect minorities might offer attractive opportunities for minority MD and Ph.D. scientists to become involved in research.

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Initiative 4. Genomics Short Course for Faculty at Minority Institutions

The annual Short Course is offered by the DIR. It updates college faculty from institutions with substantial minority enrollment on the latest developments in genomics, genetic technology, medical genetics, gene therapy, as well as ethics and grant writing skills. The course also assists attendees in incorporating this information into classroom teaching to cultivate student interest in genetic research, and offers information on careers in genetics. Participants also partake in a hands-on laboratory experience using the latest genetic technologies and research.

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Initiative 5. Minority Travel Award

The Minority Travel Award provides funding for students and faculty who wish to attend a workshop or course in genomic technology or attend a scientific meeting that focuses on genomic sciences. Attendance at these courses/workshops/meetings offers an opportunity for students and faculty to learn more about the HGP.

With the assistance of our consultant, Dr. Clifton Poodry, we hope to strengthen the effectiveness of these mechanisms for increasing the diversity of investigators in genomics research.

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GOAL 4. To foster development of policy, education and outreach activities relevant to increasing the involvement of diverse communities in all aspects of genetic research, to reducing health disparities, and to integrating new genetic technologies into health care in underserved communities.

The ultimate success of the HGP for humankind depends on the translation of its raw sequence data into tools that can be used in the prevention, diagnosis, and treatment of disease. Achievement of this formidable task will necessitate meeting challenges beyond scientific and medical research and development. Foremost among these challenges are the needs to: (1) inform and engage the public in dialogue about the medical, ethical, legal and social implications of genetic research; (2) enhance professional genetic literacy and the integration of genetic technologies into medical practice; and (3) enact policy protections to ensure genetic information is not misused.

Forging and maintaining meaningful interactions with members of diverse communities in all of these arenas is critical to the goal of reducing health disparities, as well as the goals of the HGP as a whole. The NHGRI recognizes that to succeed there must be an ongoing dialogue that is tailored to the particular needs and concerns of each community.

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Initiative 1. Identifying and exploring the concerns and needs of diverse populations with regard to the integration of genetic medicine into health efforts.

In November 1998, the NHGRI co-sponsored a meeting with the National Bioethics Advisory Commission (NBAC) entitled "Involving Diverse Communities in Genetics Research". It was a 'brainstorming meeting' to get input and advice about what NHGRI's goals for community involvement should be and how best to achieve them. Presentations from three representatives of minority communities entitled "What I Would Do If I Were the Director of NHGRI" were especially enlightening. One of the strongest messages to emerge from that meeting was the need to engage in meaningful dialogue with minority communities and to work toward building trust between the researchers and members of the communities.

The NHGRI has begun the process of identifying an individual or individuals to work with the institute to continue this dialogue. In fiscal year 1999 the NHGRI added a staff position in the Office of the Director whose responsibilities include identifying, developing and nurturing relationships with voluntary health organizations and consumer groups with a shared interest in human genetics and genome research. This analyst assists other senior staff in the office in efforts to cultivate and nurture these partnerships and coordinates closely with other NHGRI staff on efforts to reach out and involve diverse communities in the formulation, conduct and translation of genetic research among ethnic and racial groups.

The goal over the next few years is to develop and implement a long-range outreach plan for maintaining meaningful interactions with minority communities. Central among these plans is the continuation and expansion of the NHGRI Annual Consumer Day program that was initiated in the Fall of 1999. This successful event brought nearly 250 participants to NIH for a day-long program to gain a better understanding of the HGP. Breakout sessions addressed new genetic technologies, genetic testing and counseling, human genetic variation, genetic resources for consumers and privacy and fair use of genetic information.

Other activities include the development of educational and outreach materials that are effective in communicating with diverse groups. This will involve identifying target audiences, exploring the underlying educational issues and evaluating pilot projects.

In addition, the NHGRI will support and participate in a two-day Health Awareness Fair and Medical Student Symposium. This is an NIH-wide activity that will be carried out in Spring of 2000 in conjunction with the Student National Medical Association (SNMA). On the first day, 30 minority medical students will participate in a symposium on opportunities in research. On the second day, a health fair will be held targeted at middle and high school minority students. The goals of this initiative are:

  1. To heighten the health awareness of young minority students and their families.
  2. To inform and enlighten future minority physicians and researchers interested in advancing the well being of ethnic and racial minorities.

Finally, the NHGRI director and senior institute staff will continue to take advantage of opportunities to participate at national meetings of groups representing diverse communities. Recent examples of such interactions include plenary addresses before the Intercultural Cancer Council, the Society for the Advancement of Chicanos and Native Americans, and the National Medical Association.

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Initiative 2. Increasing the level of genetic literacy among health care providers and supporting the integration of genetic technologies into medical practice.

The NHGRI is committed to ensuring that health care providers have the knowledge, skills, and resources to integrate effectively new genetic knowledge and its technologies into their medical practice. Toward this goal, the NHGRI, in active collaboration with the American Medical Association (AMA) and the American Nursing Association (ANA), launched the National Coalition of Health Care Professional Education in Genetics (NCHPEG). The Coalition is a national effort to promote health professional education and access to information about advances in human genetics. Members now include over 100 diverse health professional organizations, consumer and voluntary groups, government agencies, private industry, managed care organizations, and genetics professional societies.

NCHPEG has actively sought to be inclusive in its membership. It has been quite successful in enlisting the participation of a wide range of professional groups; indeed, it is the diversity of the professional groups that it represents that is key to the NCHPEG's past and future achievements. NCHPEG has been only moderately successful, however, in enlisting organizations that focus on the issues of minority communities and other populations under-represented in many health care programs. In an effort to place additional emphasis on the active recruitment and involvement of such members, on February 14, 2000 the NCHPEG Steering Committee approved the formation of a Diversity Initiative Working Group. The working group will develop a diversity initiative to enrich NCHPEG's inclusion of minority populations and other groups traditionally disadvantaged in access to health care. The group will:

In FY 2000, with funds recently awarded by a Robert Wood Johnson Foundation grant, NCHPEG is able to offer ten scholarships of up to $1000 each for attendees at the annual general membership meeting. The scholarship monies are available to defray transportation, lodging, meals and incidental expenses related to meeting attendance for those who do not have other resources to draw on.

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Initiative 3. Fostering the involvement of members of diverse populations in the planning, design and implementation of public policy development concerning genetic research and the appropriate application and use of genetic information.

The public is concerned that genetic information will be used by insurers to deny, limit or cancel their health insurance and/or by employers to affect job placement or benefits. This concern is affecting the choices individuals make about their own health care and their decisions whether to participate in research. Survey results released in March of 1998 found that 69 percent of Americans thought health insurers should be barred from accessing genetic information. In addition, 85 percent of those surveyed believed that employers should be prohibited from obtaining information about an individual's genetic conditions, risks and predispositions. In the same survey, 63 percent of respondents said they probably or definitely would not take a genetic test if employers or insurers would have access to the results. In genetic testing studies at the NIH, nearly 32 percent of eligible people recently offered a test for breast cancer risk declined to take it, most citing concerns about health insurance discrimination and loss of privacy.

The NHGRI partnered over the past five years with the National Action Plan on Breast Cancer to sponsor a series of consumer workshops. Each of the workshops brought together experts in the field of genetic research and public policy and consumer representatives to consider particular aspects of the privacy and fair use of genetic information. Workshops included: "Genetic Discrimination and Health Insurance: A Case Study on Breast Cancer" (July 1995); "Genetic Information and the Workplace: A Case Study on Breast Cancer" (October 1996); and "Privacy and Confidentiality in Genetics Research," (September 1997). These workshops enabled the NHGRI to forge consensus recommendations in this critical policy area. There is growing evidence that these recommendations, which were published in the October 1995, October 1996 and September 1999 issues of Science, have provided a useful foundation for federal and state lawmakers to draft legislation to protect the privacy and fair use of genetic information. Over 20 related bills are pending in the 106th Congress and more than 500 bills are pending in state legislatures across the country.

Workshop participants were from a broad range of organizations, communities, and groups. However, the NHGRI believes that the participation of individual's from medically under-represented communities needs to be strengthened. In the future, NHGRI plans to:

For more information on NIH-wide efforts to address health disparities, please visit Addressing Health Disparities: NIH Program of Action [healthdisparities.nih.gov] on the NIH site.

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Last Updated: October 1, 2012