Public Health Genomics:

The Principles Underlying the Intersection of Public Health and Genetics

The true potential of the Human Genome Project lies in its translation to information that can improve health and prevent disease. For this to be achieved, we must develop a workforce that understands the principles and implications of genomics as well as the science; is capable of performing the genetic epidemiologic research essential to translation; and is skilled in educating professionals and consumers. This module reviews the foundations of public health and genetics/genomics and theory and illustrates challenges to their effective integration. The afternoon will present an overview of the certificate program and review the activities planned to achieve the program goals and objectives.

Genetic Epidemiology: Theory and Practice

The beginning of the 21st century sees the intersection of enormous advances in information technology, genetics and genomics. Sequencing of the human genome offers great promise for health promotion and disease prevention, specifically in enhancing predictive testing and prevention, allowing stratification of disease risk and targeting treatments, and providing innovative approaches in pharmacogenetics. But, the translation of genomic information to improve health requires a strong basis in genetic epidemiology—the term first coined by Morton and Chung in 1978 to describe the study of the interaction between genetic and nongenetic factors in disease etiology.

This module outlines the role epidemiologic methods play in the continuum from gene discovery to clinical and public health applications. The theoretical basis is presented in the morning and the applications of breast and colon cancer are presented in the afternoon. An informal evening session starts with showing a PBS video on two sisters grappling with BRCA testing and ends with a roundtable discussion of the many ethical and social issues this raises.

Translation of Genomics into Public Health Practice

In order to translate the sequence findings of the human genome into information that will have clinical applications and improve public health, a variety of steps need to be taken. The analytic utility, clinical validity, and clinical utility of genetic tests must be studied in populations before genetic tests can be moved from research and development into widespread clinical usage. To this point, most genetic tests have been developed for the diagnosis of rare diseases. But, as the contribution of genetic variation to common conditions is being increasingly understood, a growing number of genetic tests are being proposed for population-based applications such as carrier testing, predictive testing, and pharmacogenetic testing for variation in drug response.

“These tests and other anticipated applications of genomic technologies for screening and prevention have the potential for broad public health impact. A number of issues have been raised about the current status of genetic testing implementation and oversight, including the need to develop evidence to establish efficacy and cost-effectiveness before tests are commercialized. In addition, as consumer interest in—and demand for—new genomic technologies continues to rise, it creates an increasingly urgent need for timely and reliable information that will allow health care providers and payers, consumers, and policy makers to distinguish tests that are safe and useful.

 

Recommendations on the development of safe and effective genetic tests have been produced by expert panels, professional organizations, and clinical experts, including the National Institutes of Health - Department of Defense Task Force on Genetic Testing and the Secretary's Advisory Committee on Genetic Testing. However, a coordinated approach for effectively translating genomic applications into clinical practice and health policy has not yet been developed.” [from www.cdc.gov/genomics]

This module examine multiple issues that are raised by the translation of genetics and genomics information into public health practice.

Implications of Screening: Newborn Screening

This is one of three modules that will explore different types of screening programs and the implications the evolving field of genomics and the organization of health care services have for screening of both individuals and populations. This module will examine the history and current practice of this large public health population screening program. Particular attention will be paid to factors influencing screening, including rapid technologic advances, private industry and market forces, and autonomy/informed consent. Experts will present their perspectives and provide examples illustrative of the challenges. The session will also highlight roles of professionals in this arena, including their essential functions of safeguarding the public and educating consumers, providers and the population.

Genetic Identity and Advocacy

Ensuring access and equity in public health genomics presents unique challenges. The results of genetic tests have implications for the individual as well as for family and populations. Implementing public health genomic policy and programs based on individual screening results raises challenges to individual autonomy and decision-making, hallmarks of genetic testing. Particular skills are required for the appropriate interpretation and communication of genetic testing results and their quality can impact treatment, outcome and behavior. Research in genomics must be translated for use at both the individual and population levels and the application of findings and discoveries must be monitored to ensure that they address issues of utility, equitable access, safety, and validity. This module and those on Decision-Making and Risk Communication and “Race,” Ethnicity and Genomics explore unique aspects of genetic information and implications for individuals, examine history which should inform current and future practice, discuss strategies for ensuring safe and effective use of genetic information, and discuss challenges for the development of public policy and programs.

Implications of Screening:

A. Carrier Screening
B. Prenatal Screening

This module will explore different types of screening programs and the implications the evolving field of genomics and the organization of health care services have for screening of both individuals and populations.

Part A will explore Carrier Screening, with specific focus on community-level variables that influence the development and acceptance of screening programs. Over the next two days, three conditions—Tay Sachs Disease, Sickle Cell Disease and Cystic Fibrosis—will serve as examples of population-base screening initiatives that illustrate the challenges and successes of different programs and provide opportunities to compare and contrast different public health strategies. Experts will review the history of each initiative, paying particular attention to the community initiatives and historic precedents that influenced each program’s development and acceptance. We will examine the experience with Tay Sachs today (Sickle Cell Disease and Cystic Fibrosis will be addressed tomorrow), and will include an examination of the factors and climate associated with its development and implementation. The discussion will also include an examination of the future for screening programs.

Part B, Prenatal Screening, will explore the evolving science informing this routine practice as well as emerging controversies. Sessions will also highlight roles of professionals in these various arenas, including their essential functions of safeguarding the public and educating consumers, providers and the population.

Tools of Genomics for Consumers and Professionals:

A. Carrier Screening—Moving Forward
B. Determining Utilization of Genetics and Genomics—Federal Initiatives

Part A will continue and complete the certificate program’s exploration of population carrier screening. Yesterday, a successful population screening initiative, Tay Sachs, was explored. Today, we will discuss Sickle Cell Disease and Cystic Fibrosis screening, and examine the factors, climate and controversies associated with these two population-based screening programs. As we conclude the study of carrier screening, we will revisit Tay Sachs as well, and hold a comprehensive discussion of the challenges and successes of each example and of what these three initiatives suggest for effective public health strategies in the future.

Part B will focus on the key role of the federal government in determining how genetic discoveries and knowledge will influence current and future practice and policy. The success of the Genome Project will only be realized through its successful translation into practice and policy that improve the well-being of individuals and populations. Monitoring the impact of genetics and genomic discoveries and new technologies, determining the appropriate utilization of new research, and ensuring an informed public are critical aspects of ultimate success—and all of these are significantly influenced by action at the federal level. We will therefore examine the development of national policy and practice. Specifically, we will explore the genesis of the Secretary’s Advisory Committee on Genetics, Health and Society—its history, format, structure and practice. Specific attention will be paid to procedures and protocols for ensuring public input and to strategies for realizing its potential in influencing utilization of genetic information. In preparation for the module, participants will be asked to prepare comments and feedback to the SACGHS on its draft report “Policy Issues Associated with Undertaking a Large US Population Cohort Project on Genes, Environment and Disease”.

Tools for professionals: The role of public health genetics/genomics in emergency preparedness and mass disaster recovery

The recovery efforts following Hurricane Katrina demonstrated the vital role that genetic information can play in forensic identification of missing persons through kinship analysis. Genetic counselors, public health workers and other genetic professionals are now continuing to explore new roles at the intersection of genetics, emergency preparedness and mass disaster recovery. Issues currently being examined and debated include how systems can be set up to facilitate identification and (when possible) reunion during and after disasters; how public health data bases can and should be utilized to identify people after mass disasters; and how a workforce of people able to cope with these complex issues with both technical skill and emotional competency can be trained and assembled. For example, genetic counselors and other genetics professionals likely have education that equip them to work with individuals and families who are grieving and to identify missing relatives. Assets they bring to this work include unique training in eliciting accurate information about family relationships when individuals are emotionally volatile; expertise in identifying family members that are informative for accurate kinship analysis; and understanding the delicate nature of the family history information and the possible psychological repercussions it may have. Public health professionals, on the other hand, are likely to have training in disaster preparedness, access to state-wide systems that can be of use after the disaster, and formal responsibility for many aspects of recovery. This module will explore the issues highlighted above, and the emerging role of professionals with a broader understanding of the multifaceted nature of emergency preparedness and mass disaster recovery as it intersects with genetics via forensic identification and kinship analysis.

Community-Based Participatory Research

The “era of genomic medicine” has been heralded by rapid advances in scientific research. However, research that occurs in laboratories and is conducted by highly-trained experts is just one aspect of the much broader research agenda many have recognized as essential if advances in science are to be made meaningful at the population level and in specific communities. This module examines two aspects of that broader agenda: 

1. The fostering of community leadership to make genetics relevant and useful at the population level in two Consumer Genetics Education Network projects, and
2. The theory underlying community-based participatory research and the cultural and equity considerations inherent within it.

The session will close by integrating the two segments, comparing and contrasting the case examples with the theory of community-based participatory research, and examining more closely the critical intersection of cultural issues, genetics/genomics, and public health.

Genetics and Research: Unique Issues and Conflicts

With the completion of human genome mapping, research in genetics has grown exponentially, including expansion not only in terms of quantity, interest, funding, and range of challenging and important questions, but also in terms of reconstructing existing scientific and medical research agendas to reflect a new genetic perspective and new genetic knowledge. Many of these new research initiatives and new perspectives on research questions are in the growing arena of public health genetics.

In this educational module, students will begin by exploring the central framing questions: “Is genetic research inherently different from other research? If so, how?” What additional sensitivities should researchers involved in genetic research have? What ethical questions are raised in human research generating genetic information? What are the implications for the construction of genetic research studies, for protection of human subjects, for monitoring and reporting, for public engagement?

We will explore these framing questions by working on case studies developed from actual research situations. Students will work in small groups, each of which will study a case in depth and present their findings to the entire class.

The day will conclude with a panel discussion about three issues central to all of the case studies and to much of genetic research: (1) ownership (e.g., gene patents), (2) confidentiality and privacy, and (3) generational patterns of inheritance and what this means for genetics research. Each of these issues impact individuals who are subjects of research as well as their families. They each also have policy implications that impact the larger society.

Perspectives on Genetic Variation: Substance and Practice

Research in genomics has long out-paced our ability to apply findings effectively in clinical practice. As the process of translating research to practice (i.e., “translation”) moves forward, it will be critical to insure that the application of new knowledge addresses issues of utility, equitable access, safety, and validity. This module will introduce students to two critical aspects of the translation process, as follows:

1. Genetic Variation. As genetics and genomics become increasingly relevant in medicine and public health, it is critical to recognize the extent of individual genetic variation within populations. We will explore genetic variation both as a theoretical construct, and in terms of its meaning and application with respect to public health genetics/genomics.
2. Educating Health Care Professionals About Genetics/Genomics. Educating health care professionals about emerging issues is a major challenge shared by both genetics and public health professionals. We will explore this critical function and what it entails; provide an overview of how it is approached by the National Coalition of Health Professional Education in Genetics; and help students develop their own skills and strategies in this area.

Capstone

The capstone course is a culminating intellectual and skill-based project that will integrate all of the material covered in the certificate program curriculum. Students will be encouraged to develop a capstone that emerges out of and/or connects them to a work-place setting, and that can be of use to them as they develop their new career directions. They will receive guidance throughout the project from program faculty. The project is an opportunity for students to apply and gain facility with the concepts and methods learned over the course of the program.

Possible capstone projects include: developing a public health education strategy on a genomics topic targeted for a specific audience—policy-makers, consumers, minority populations; developing an education program/initiative to address a specific need or learning objective for your organization/workplace; developing a case study on a public health genomics issue; interning with a state public health agency involved in genomics; developing an annotated bibliography on a topic in public health genomics responsive to needs of your workplace; interning with policy-makers at the federal, state or local level.