Revised White Paper #3: A Vision for the Future of Genomics: Education and Community Engagement

National Human Genome Research Institute

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


A Vision for the Future of Genomics:
Education and Community Engagement

REVISED

A white paper for the National Human Genome Research Institute

Submitted by: Vence Bonham, J.D., and Sharon Terry, M.A.
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Introduction

Since the complete mapping and sequencing of the human genome in 2003, our understanding of the role of genes in health and disease has begun to expand beyond rare genetic diseases to common diseases such as cancer, diabetes, heart disease and stroke. The new era of healthcare - genomic healthcare - is rapidly advancing, and provides a powerful means for tailoring health care at the individual level. Important considerations for this era include healthcare providers' knowledge, competency, perceptions, and views of genetics and genomics; the challenges presented by individuals who have, at most, a passing interest in genetics/genomics, and how they will react if they or a family member have validated risks or are diagnosed with a disease; and access to genetic and genomic services for underserved communities and how their voices are not only heard, but incorporated and understood.

The public must be engaged, to ensure that their interests are effectively addressed and represented (137). Given the potential implications of genomic medicine for healthcare professionals and the general public, the development of new educational, outreach, and community engagement strategies and programs should include consideration of the following questions:

Health Professional Genomic Education

1. How will health professionals interpret and use the results of new genomic information in clinical practice?

Expanded genetic testing for common diseases will have a significant impact on health care practice in the future, and currently raises a number of questions: What knowledge and skills do health professionals need to order and (89) interpret genetic testing for common diseases? What educational resources about genetic testing for common disease are needed to ensure that health professionals can interpret and use the results effectively to care for their patients? What are the best methods to assess how health professionals use genomic information in their daily practice? How does health professionals' use of genomic information affect patients' health outcomes? How do health professionals effectively utilize genomic information (137) as tools in prognosis, diagnosis (92), prediction, drug choice, dosage, and monitoring?

2. What are the most effective efforts to educate health professionals?

Questions remain about awareness, usefulness, and effectiveness of current genetics and genomics educational efforts: Who should develop educational resources for health professionals? (194, 209) What are the roles of major healthcare professional organizations in creating genetics and genomics standards of practice to guide health professional education? What are the most effective approaches to educating health professionals about genetics and genomics on an ongoing basis? What can be learned from other health professional education (70) research for future implementation of genomic education for health professionals? Which efforts will be particularly useful for health professionals in training and which for those already in practice? How should health care professionals be educated on bests use of genetic/genomic tests when the utility and validity are not clear cut (89)?

3. How should new information technologies be used to educate health professionals?

Important questions about emerging information technologies and resources for medical and health data management and evaluation systems include: Are electronic medical information and decision-making systems clinically reliable for genetic information management? How will health professionals overcome the barriers to implement data health management and evaluation systems that have family and cross-generational applications? How will new information technologies and resources be used by health professionals to assist in the interpretation of genetic data, and what methods of education will be needed to achieve successful utilization (92, 137)? Are there special privacy and security barriers for the incorporation of family genetic information in health care organizations' electronic medical information systems?

4. What role will direct to consumer (DTC) genetic testing have in clinical decision-making?

How healthcare professionals handle this new, direct to consumer approach of genetic testing (137) to their patients remains to be seen. What are the most effective approaches and methods to educate health professionals about DTC genetic testing? What education methods will ensure healthcare professionals can accurately interpret their patients' risks based on DTC genetic test results? What will be the impact of DTC on health professionals' practice, and how will this impact be measured? What policy initiatives are needed to ensure DTC testing is of the highest quality? How can the health care community as a whole be confident that the information provided with genetic services is not only being accessed, but understood?

5. What scientific and clinical research will best support and accelerate the integration of genetics and genomics into healthcare delivery and practice?

The evolving and shifting roles of primary and specialty care providers, as well as genetics professionals, in the risk assessment for genetic diseases and communication of genetic and genomic information, is a research challenge. How can an evidence-based process be used in the integration of genomics into personalized health? What are the barriers for healthcare providers to integrate genetics and genomics health applications into their practice? What is the overall health impact of genetic testing and genomic-based prevention and treatment on patients, and how can this best be evaluated? What are the criteria that physicians and health care professionals believe are essential for adoption of genetic testing in their practices? (125)

Public Genomic Education

Public genomic education is currently a mix of staid and typical modules, with a few more imaginative and dynamic web 2.0 interactions. The public receives information intentionally from programs developed by government, academia, disease specific advocacy organizations, and the healthcare industry. New entrants to the field include companies, particularly those looking to market tests and information directly to consumers. Other information, not developed in the academic realm, has managed to reach new levels using a variety of modern tools, and viral networks. Many members of the general public will never clamor for genetic information, so it must be ready in discrete, compact, units when they need it - and become high interest consumers.

6. What research is needed to determine the most effective methods of informing the general public about genetics and genomics?

The production of information has shifted dramatically even within the last few years. Whereas the traditional paradigm of information creation held that experts in certain subjects produced information, new technologies have allowed many more models for the production of information. In the first place, what information do consumers need to know about genomics? What methods and processes would enable information to be ready and current as consumers' needs increase? What are the best ways to evaluate the quality of genetic and genomic information? What methods can ensure those who communicate information about genetics and genomics to the public are well informed (198)? How can the experiences of "high interest consumers" inform the information needs of "ordinary interest consumers"? What impact does preparing "ordinary interest consumers" have on their readiness for information later on? What are the implications if every person has their genome sequenced, and it is readily available (e.g., privacy, confidentiality, and interpretation)?

7. What education methods will ensure quality of access to genetic and genomic information, especially for underserved and underrepresented communities?

How can the immense amount of health and educational information related to genomics best be vetted? What does evidence-based information mean in the context of genomics? How can information remain accessible in many forms for many cultures and needs, particular those that are underserved and underrepresented? What are the special concerns of underserved minority communities? What are the special concerns of the elderly?

8. How can genomics education contribute to preventive health?

To realize the potential of personalized medicine, multifactorial risk assessments must include such factors as personal health status, family history, genomic testing data, environment, and lifestyle. To reach the public and be successful in prevention, the following questions need to be addressed: How do we educate individuals to learn about their risks and utilize the information to prevent disease through interventions such as healthy diet and lifestyle, exercise, screening, and other pharmaceutical and medical interventions? What behavioral incentives can motivate prevention? Ultimately, how will we learn what behavior changes are effective for whom, and how do we promote those changes so that they are sustainable throughout the lifespan? What type of public-private partnerships can be formed to promote and ensure behavior change? What is the role of communities in promoting preventive behavior (194)? What can the field of genetics and genomics learn from other fields that have tracked behavior change? Does increased communication about health within the family lead to better lifestyle choices and identification of health issues independent of risk? What is known of the psychosocial impacts of family health history collection?

9. How do we use rare disease experiences as a learning tool for common disease?

What lessons do incomplete penetrance, risk, inheritance and genetic concepts related to rare diseases teach us to prepare us to overlay the complexity of common conditions? How do rare diseases support hypotheses about information sharing and reactions to predictive and prognostic information?

10. What are the benefits and barriers to shared clinical decision-making between the individual and the healthcare professional?

Genetic and genomic information sharing will serve as a bridge between health professionals and patients, and through it a shift will occur in the relationship paradigm. To what is this change likely to lead to in clinical decision making? Is there resistance to this paradigm change, either from individuals or particular health professions? What attitudes or behaviors are related to this resistance? What role do consumers or disease-specific organizations representing their constituents have in changing these attitudes?

11. How can K-12 Science Education efforts contribute to successful public genomic education?

What information about genetics/genomics should be included in the K-12 curriculum to adequately prepare students for how genomics may affect their health? How well do specific school-based genetics/genomics curricula prepare students to evaluate genetic/genomic information (79)? How can National Science Education Standards best be used to enhance genomic education for the public? (103)? How can science education efforts improve the general publics' literacy in genomics and health (80)?

Community Engagement

Community engagement and educational programs are an important method for engaging a broad range of the public in understanding genomics and accompanying ethical, legal, and social issues. Community engagement programs promote respectful and active discourse (71) and include those to inform the public about the latest advances in genomics, as well as to support the dissemination of information openly (71). Successful community engagement programs also allow for funding agencies, investigators, academia, and other groups to hear from communities (152, 167).

12. Why is community engagement important to the field of genetics?

What are the most effective ways to engage diverse communities in conversations about genetic and genomic research? How can communities that have long standing concerns about genetics research and their communities' best be engaged? How are communities outside of the engaged scientific, clinical and policy communities identified and also (194) empowered to make their voices heard? How will cost influence the engagement of communities in genetics services? How should the genomics researchers engage diverse communities in genomics research? What models of community engagement exist that can be expanded to topics on genomics? How can genomic topics be made relevant across diverse communities that have diverse needs? What are sustainable methods for engaging communities long term?

13. How should (79) community based participatory research (CBPR) or other methods effectively capture successes in community engagement in genomics?

What are the measures of success for community based participatory research? When is CBPR appropriate and/or particularly effective in genetics and genomics research?

14. How should new information technologies and social networking areas be used to engage the public?

What communication strategies and technologies are the most efficient in engaging the public around genetics and genomics? Do current and emerging communication strategies take into account the diversity among individuals and communities? How is technology changing community engagement in genetics and genomics (194)? How will genetics and genomics community engagement and communication address individuals and communities with low literacy or who speak another language? How can communities be assured that the genetic and genomic information they are accessing and receiving is accurate and reliable?

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Last Reviewed: March 19, 2012