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

Public Genomic Education will become increasingly important, particularly to adolescents and emerging adults because they will be the next generation to make decisions in the era of the Human Genome Project. They are already knowledgeable about how to get information through the Internet about health concerns and genomics will be no exception. Websites such as 23andMe will also cater to this young crowd and results of genetic susceptibility testing are already being made available to individuals without benefit of genetic counseling and without regard for its impact on families. This is an area for multidisciplinary research.

(60) Saturday, December 20, 2008 10:17 AM

Section 2,

Sentence should read "health professional education research" not just medical education research.

(70) Tuesday, December 23, 2008 1:19 PM

The description asserts that community "engagement" and education "are an important method for engaging a broad range of the public in understanding genomics and accompanying ethical, legal, and social issues." Good. One would hope for strong agreement in public understanding as a desirable goal, especially with respect to the "accompanying ethical, legal, and social issues."

Then the statement continues: "Community engagement programs include those to inform the public about the latest advances in genomics, as well as to support the dissemination of information to consumers."

Note that two purposes are given: (1) "to inform...", and (2) to disseminate information "to consumers".

There are two concerns here. First, "consumers" are certainly not the only sector of the public with a serious stake or interest in genomics. This problem is easily resolved by simply replacing the phrase "to consumers" with "openly", for example.

A greater concern is that while "community engagement" and "education" are named, the two purposes (inform and disseminate) appear directed *toward* the public - rather than relational. Instead the medical, research, and educational professional communities must be as prepared to learn from "the public" even as the public stands to learn from relevant professional communities. This is to suggest that community engagement and education is not properly indoctrination, but respectful and actively "engaged" discourse seeking authentic understanding. Perhaps the statement can be reworked to reflect an intent to support mutual understanding among the public and professional communities?

(71) Friday, December 26, 2008 5:54 PM

These questions are extremely important and the answers must be evidence-based on resaerch and not opinion. It will mean that scientists, whether we like it or not well need to work with public individuals and groups whose world-view and philosophies may be at opposities poles from our own.

(77) Tuesday, December 30, 2008 2:42 PM

How are health professionals, even doctors, going to be prepared to interpret genetic results if they are not well trained? Is every clinic is going to need a genetic counselor? What about physician's office?
Does every state have enough gentic counselors or at least means of getting educated (genetic counselor trainnings)
Is there going to be needed a special license to interpret genetic results?
I think is as important as getting a phlebotomy license.
Everybody needs to get well prepared

(78) Tuesday, December 30, 2008 4:38 PM

Public Genomic Education section -
Additional questions to consider for question:
6) The National Science Education Standards and AAAS Benchmarks for Science Literacy are outdated with respect to genetics/genomics. What information about genetics/genomics should be included in the curriculum for each grade band (K-5, 6-8, high school, college) to adequately prepare students for this genomic age?
How well do specific school-based genetics/genomics curricula prepare students to evaluate genetic/genomic information (particularly in the media and on the Internet), become informed consumers, and make genetics/genomics-related health care decisions? What improvements are needed to better prepare students? How well do school-based curricula that have a take-home family component educate family members about genetics/genomics? Is this an effective means for educating other family members, particularly adults? How can these programs be improved?
What teacher professional development programs are most effective in updating teachersý content knowledge so they are prepared to effectively teach genetics/genomics? How can teachers in rural and/or underserved communities best be reached?

7) How can genetic information best be conveyed or presented for individuals of specific cultures and of differing literacy levels? What methods of accessing genetic information are most appropriate for individuals of specific cultures, communities and literacy levels? What are effective and/or best practices ý both in general, and for specific communities - for engaging community members in developing genomic education materials that meet their needs and interests? How can cultural issues that may influence feedback to material developers be addressed?

8) What are the psychosocial impacts of family health history collection in differing communities, including those that are underserved?
How can genomics most effectively be incorporated into Health Education curricula at the K-12 level? Does the inclusion of genomics in these curricula have an impact on the short-term and long-term preventive health choices and behaviors of students and their families (current and future)?

Community Engagement section -
I agree with the previous commenter that Community Engagement needs to be a shared process. Community engagement programs need to employ community-based participatory principles/practices, such as respect for the expertise each person brings, shared decision-making, and engaging the community in determining what information is needed, and how it can be most effectively presented.

11) Additional question: What methods can communities use to engage researchers in issues that concern a community?

13) I suggest changing several questions to "How can...", since this is an emerging field; e.g., How can new information technologies and social networking areas best be used to engage the public? How can current and emerging communication strategies take into account the diversity among individuals and communities? How can genetics and genomics community engagement and communication best reach and include individuals and communities with low literacy or who speak languages other than English?

(79) Tuesday, December 30, 2008 10:35 PM

In the sections on Public Genomic Education and Community Engagement, there needs to be far more attention paid to the topic of health literacy. According to the Institute of Medicine 2004 report**, ninety million people in the United States, nearly half the population, have difficulty understanding and using health information--information as basic as how to take medication. In light of this huge discrepancy between available health information and the public's capacity to understand and use it, we cannot afford to ignore the relatively little research there is on health literacy. Rather, the human genome project should be a catalyst for advanced research that explores the individualýs capacity to obtain, process, and understand health information.

**Health Literacy: A Prescription to End Confusion. Lynn Nielsen-Bohlman, Allison M. Panzer, David A. Kindig, Editors, Committee on Health Literacy. Released April 08, 2004

(80) Thursday, January 1, 2009 2:35 AM

"...the development of new educational, outreach, and community engagement strategies". This need cannot be overstated. Currently there are both faculty shortages and clinician shortages in our nation with little likelihood of these abating in the near future. Our academic professionals live in silos: schools of medicine, schools of nursing, schools of public health and each with separate CME/CE programs. Educators design and develop their own genetic/genomics courses - this is resource intense, of varying quality, and not cost effective. Why not pursue a new national academic & CE course model in collaboration with academia and public education? The internet offers unlimited potential for a "national" education model. Scientific, behavioral, and clinical genetic/genomic information and standards of practice can be leveled both academically and professionally. Information can be readily updated and by experts. We cannot translate research into practice if we do not have a common understanding of the basics and the research. Just a thought since we're thinking outside the box...

(87) Saturday, January 3, 2009 2:45 PM

Excellent summary. I only have a couple of small comments.

1. In question #1, first full question, insert "order and" before "interpret", i.e., "What knowledge and skills do health professionals need to "order and" interpret genetic.....
It is my understanding that there are more and more salespeople talking to primary care docs about ordering genetic tests.

2.In question #2, I would include another question that gets to the issue that genetic/genomic tests may not always have clearcut validity and utility. For instance, "How should health care professionals be educated on best using genetic/genomic tests when the utility and validity are not clearcut?"

(89) Monday, January 5, 2009 5:36 PM

Additional questions and some comments, by main question section (there is not input on every section):

1) To the last question you need to add diagnosis to prognosis, prediction etc. This set of questions uses the word information consistently, but that begs the questions of where the distinction is between genetic data and genetic information and who will turn the data into information, how will they do that, and how will that policed?

2) The first two questions should be: What education is necessary and sufficient to function in this new genetic world? How do we get that initial information to practicing professionals?

Other questions include: what is the influence of questions from patients on provider interest in topics? How can the licensing and specialty boards help drive the implementation of these technologies forward?

3) Reminds me of a question not included that is worded similarly, but more directed: ýHow should new information technologies be used to assist health professionals?ý This leads to customized application questions and questions on how people use the information, what influences them positively or negatively, etc. This is not just an educational question. It has been shown that ICU care is improved when computers are integrating the information and making recommendations to the clinicians because there are too many variables for a human to keep straight on a real-time basis. That will be the case in genetics as well. It does not mean the providers do not know the information, just that they cannot process it in all of its complexity in a timely fashion.

4) Do we have the guts or the philosophical bent to regulate this? If it is can be marketed, is it automatically in the public interest? Do we align our interests with the public or with the companies? Where are the workable compromises? DTC marketing of drugs has been an unmitigated success in the pharmaceutical field, and to my knowledge, we physicians have not made progress in addressing it. So, we take away the pads and pens drug companies have been giving to physicians for years, but do not address the DTC marketing which has caused the latest boom in sales/costs. This is treating a symptom, not the disease.

7) This asks a key question about ýwhat does evidence-based information mean in the context of genomics? Since many of the variants that will be found for common complex disorders will be found for people already under treatment and it would be ethically problematic to remove their treatment or to not treat people with known disease even if we are looking at a new variant combination, how much evidence will there be? How do we address this issue?

(92) Tuesday, January 6, 2009 9:42 AM

I would like to comment on item #4.

Remarkably, I believe that this question on DTC is correctly framed! The real issue is educating clinicians so that when their patients bring genetic data (from DTC testing) to them, they will have some idea what it is all about. Some would solve the problem by simply blocking the access of consumers to DTC testing, which is a misguided and ultimately fruitless approach (consumers can always take their business to other countries). Any initiatives on DTC should focus on bringing clinicians up to speed and in possibly regulating the disclaimers that DTC providers must provide. That is all that is needed. There is NO need to block or control access by consumers.

(97) Wednesday, January 7, 2009 7:04 PM

My comment is on the questions regarding public education. I find it interesting that, although the introductory sentences refer to schools and "academia", there is no question addressing how the NHGRI can contribute to genome education for various levels of secondary and college education. I think this is a serious omission.

(106) Thursday, January 8, 2009 10:53 AM

Public Genome Education
As part of this overall process, we need to include the formal educational system--updating the National Science Education Standards to focus on what is important--Genetic Literacy--meaning sufficient understanding of genetic principles so that individuals can meaningful apply that knowledge to their daily lives, and to society more generally.

This also means appropriate training of pre-service and in-service K-12 teachers to be able to maximize the genetic literacy of their students. This admittedly is not a "short term" solution, but essential in the long term.

(107) Thursday, January 8, 2009 3:57 PM

these seem very thoughtful to me.

(115) Thursday, January 15, 2009 10:39 PM

Generally, this paper is critical. The future of this work must include consideration of the means of how best to engage those who contribute and would potentially benefit. We have much to learn. There is a paucity of evidence of what works best, but there are much lessons learned, knowledge and skills from related health areas that can be effectively used as frameworks to address this lack of evidence. Some suggestions are below.

In regards to professional interpretation and use of new genomic information and education of health professionals ý a focus on assure basic core competencies of genetics and genomics knowledge and skills as has been developed by the CDC, SACGHS and NCHPEG should be use to provide a framework to: 1. Assure this new information is understood; and 2 Assure clear thinking am methods on how best to use this information ethically and practically.

In regards to DTC efforts at identification what sources exists, regulation of existing and new sources and a focus on professional/consumer education (see SACGHS letter) must be enacted immediately.

In regards to public Education and prevention efforts ý sound and proven public health principles of public education that have a focus on disease prevention and promotion (see SAMHSA HIV/AIDS and NCI cancer efforts) that has a sound outcome evaluation linked to it would be most efficacious. In addition, a focus on the use of family history pedigrees with a focus on risk assessment and prevention would be most effective.

In regards to community engagement and CBPR ý Engagement means persons are actively participating in their own edification and information utilization (whether with family or providers). Effort should use multimedia (including social networks tat specifically target groups ý so more than just YouTube and facebook) and traditional teaching tools (e.g., lectures, discussions) that include implementation by both professional and lay health provider groups and networks (such as broad and single gene advocacy groups at the local and national level). Lastly, models of community based participatory research (e.g., work by Eng, Israel, Minkler. Wallerstien) strongly suggest the development of partnerships between community and academia that have a clearly defined set of outcomes and research questions. The suggested focus is a hybrid model of CBPR and Health services that not only focus on the needs and assets of the community, clearly outlined research questions, but education and utilization (or underutilization) of genetic services. This research makes clear that person responds best to efforts that contribute to the benefit of those engaged, is ethical, is culturally specific and builds trust.

(116) Monday, January 19, 2009 12:58 PM

In a health care system that truly is in crisis and is crisis care oriented. It is difficult to stress preventative measures including genetics/genomic testing, when a significant amount of the population cannot afford to see a health care provider or even to buy the medicine that may be indicated and important to their current situation.

As a true advocate of the future practice of medicine including genetic predisposition I would continue to support healthcare providers and educators with current information to include in their practice. We providers are very nimble and will change our current practices as the genetics community brings their benchmark research to clinical practice.

The Physician Assistant profession and education process is aware of the current challenge and will take a few years to graduate enough students and train graduates to incorporate the latest science.

The genetics community must prepare for the utilization of genetics care in some type of universal healthcare system where resources are limited. The Electronic Medical Record if allowed to work effectively and properly may be more effective as genetic tests become part of real time daily medicine.

The fears of not being prepared for the genomic changes that will happen may be true, but the day to day care of human beings in this country is much more of a challenge that must be addressed.

(117) Monday, January 19, 2009 2:35 PM

I do not disagree with anything here. I worry about how we are going to train the next generation of researchers who are going to have to make sense of the massive amount of data that will become available. Will this be doable with the graduate and post-graduate programs as currently organized in our Universities? And once trained, will they be able to obtain research positions, whether in government, industry or academia? The current focused disease orientation of many of the National Institutes of Health makes it difficult for them to fund the depth of specialized training that will be required without because they also require training in their own specialized fields, resulting in a dilution of the training specifically in bioinformatics and statistics. So it seems to me this training will have to be supported by NIGMS, NHGRI or NCRR. Are their funds for this specialized training sufficient? Do they encourage the very best minds to engage in methodological research, to produce a cadre of professionals who will then be able to collaborate with teams of disease specialists, to understand the many pleiotropic effects that surely the vast majority of genes have at the clinical level?

(118) Monday, January 19, 2009 4:26 PM

This paper presents important points, I think rather clearly. Of course, it raises, rather than answers, questions. One area that needs to be addressed, and that I encounter with professional and lay groups, is that despite all of the current "hype" we are very much at the data gathering stage for most of the broadly applicable technologies. Expectations are unreasonably high and yet the applicability of the observations has important and personal implications. If physicians are to be the interpreters they will need far different preparation. Fortunately, the internet likely will form the basis of much dissemination of developing information

(119) Wednesday, January 21, 2009 2:00 PM

Responses are made to individual sets of questions:
1. Physicians must be able to recognize that something is ýgeneticý or ýfamilialý is going on with individual patients and must also see that something can be done based on the information, if genomic medicine is to be adopted widely. Just as importantly, family history information may prove to be more useful in the foreseeable future for assessing a patientýs disease risk. While many clinics collect family history information, work in our community suggests that the physicians are faced with too many obstacles to use it effectively (e.g. lack of time, incomplete/inaccurate information from the patient, difficulty with updating, concerns about followup monitoring, counseling, and referral, lack of clear recommendations based on family history/test results). With regards to evaluation of their practices, chart review and showing that using genetic information makes a difference for patients will be an essential piece of information to demonstrate the efficacy of genomic medicine. Possible questions to include: What are the criteria that physicians and health care professionals believe are essential for adoption of genetic testing (and family history compilation) in their practices? What tools and operations will be necessary to adopt genomic medicine into primary care? What is likely to work now in primary care?
2. It seems unlikely that physicians will embrace genomic medicine if they are expected to learn genetics before they perceive that there is a real value in the clinic, and it seems that those of us who work in genetics donýt always recognize how much skepticism exists among clinicians about genetic testing. This suggests that the use of evidence-based information which can lead to specific recommendations (family history of colorectal cancer or breast/ovarian cancer as a basis for genetic testing and screening) provides a useful starting point for illustrating the value of genomic medicine in primary care, and serves as a basis for more learning based on perceived value. One important question to address (and there has been some work about this): What is the current rate, extent, and nature of usage of family history and genetic testing in primary care? I believe the answer would confirm that there is still surprisingly little awareness about very fundamental genetic information in primary care, which actually may provide an opportunity for enlightenment.
8. Somewhere in the white paper, it seems essential to discuss how the next generation of patients will be prepared for genomic medicine. This implies that genetics is a subject that may not only be an essential part of the science curriculum, but also an important element of health
education at the middle school/high school level. The questions are: How can future users of the health care system be prepared for genomic medicine? How can topics relevant to genomic medicine be incorporated into the public school systems?

(125) Tuesday, January 27, 2009 11:34 AM

This paper raises many important questions for consideration regarding genetics education and the anticipated need for increased genetic services in healthcare. In developing ýnew educational, outreach, and community engagement strategies" there are some fundamental issues that need to be addressed.

1) The need for an evidence base to stand on in the application of genetics in the clinical worldýfor clinicians to take heed, to persuade payers, and with an eye toward reducing healthcare costsýthis cannot be overstated. This evidence ties to the use of technologies to provide point-of-care genetic resources (for prevalent conditions) as well as potential flagging systems in the EMR to assist in prevention/management.

2) Interprofessional models of education need to be developed. Although the perspective I speak from is physician assistant education, it is apparent from the comments here that all health professionals require genetics training. The Institutes of Medicine, back in 2001, identified interdisciplinary (now ýinterprofessionalý) training as a key strategy for proving optimal patient care. It is clear that genetics professionals will not be able to accommodate all of patientsý genetic needsý-so a team training model with genetic professionals should educate providers on what we should and shouldnýt do safely in this realm. PAs and other practitioners have been ýwater carriersý for any number of healthcare needs and can be directed/educated to provide specific sets of services, including genetic. What other creative models of training will help provide genetically prepared clinicians?

3) Insights into what influences the behaviors of providers, educators, (and patients) to incorporate the new information, backed by evidence, necessary to improve health. Clinician behavior change can come from the bottom up (through training our students) or the top down (clinical research and its organization and dispersal)ýbut ideally both. We need a body of research regarding how best to implement new knowledge into clinical practice.

(127) Tuesday, January 27, 2009 5:15 PM

Re: #1 - unclear why it is important to ask "how will health professionals intepret and use?" Instead, should the question be more about "what is best practice and what are the barriers to the enactment of it?"

Appreciate the inclusion of prevention in the dialogue.

Re: #3 - information technology development will be a significant influence on the knowledge base of providers and consumers. Education initiatives are best based here, so the inclusion of this question in the conversation is important. (this is appropriately acknowledged in Q#13.

Suggest the inclusion of an item asking "What opportunities exist for multidisciplinary collaboration in education and what resources exist to promote it?"

Appreciate the reference to the development of standards in educational programs. This is essential if education is to occur in a consistent way.

Thank you for the opportunity to comment.

(130) Wednesday, January 28, 2009 11:36 AM

Question 2 should be expanded to include education efforts for basic scientists, and to emphasize formal training to physicians on how to accurately convey genetic risk. In light of the advent of DTC testing, the question should address outreach efforts to primary care physicians from whom the majority of Americans receive care.

A question should also be added on:

What best-evidence guidance should be given to the various regulatory agencies that have a stake in making policy about genetic testing, including DTC marketing?

(135) Thursday, January 29, 2009 9:05 AM

Overall: This process of open comment shows NHGRIýs commitment to community engagement. We suggest that NHGRI make the conversation accessible to more people by using plainer language where possible (e.g., where technical language is not required).

Overall: The topic includes community engagement, but there are several instances in which the language implies a one-way relationship with communities. Some of the language could be changed. For example, in the Introduction we recommend changing ýý their interests are effectively addressed,ý to ýý that their interests are effectively represented.ý

Overall: How can research findings be useful in clinical scenarios ý especially when studies are small and population specific? What populations are not benefiting from research projects? Are there instances in which the clinical interpretation or commercial explanation of test results may be incorrect for certain populations because the population groups in studies are being categorized more broadly (e.g., findings from a study of Han Chinese interpreted more broadly for ýAsiansý, which would include the Indian subcontinent, East/Southeast Asia, etc.)?

Question 1: There is a question about educational resources needed for health professionals to interpret and use results effectively. This question could be broadened to general resources, as bioinformatics will be an important tool for interpretation. Will education include assisting healthcare professionals with effective and timely use of these tools for patient care?

Question 1: There is another question about how healthcare professionals will effectively utilize tests as tools. Family health history is another tool to include. Perhaps change sentence to ýý effectively utilize genomic information in prognosisýý

Questions 2: In addition to asking about standards of practice to guide education, we suggest including questions about how to ensure that healthcare professionals meet those standards (e.g., licensure, certification, etc).

Question 4: This question is about direct to consumer genetic testing, but there is also a question about direct health marketing. Because direct to consumer is often used to describe several types of marketing and sales models, it may be beneficial to clarify or distinguish between them. There will be different questions about direct marketing of tests (e.g., Myriad's BRACAnalysis), direct sales of tests in which no healthcare provider is involved (e.g., 23andMe), and sales of tests in which a healthcare provider is involved (e.g., DNADirect). See the following for further descriptions of variations between direct to consumer services.

Question 4: Direct-to-consumer genetic testing impacts more than clinical decision-making. Perhaps the question should be broader? The role of public health (e.g., quality assurance, assessment, and policy-making) will be important in terms of how direct to consumer tests are understood and utilized.

Question 11: What funding models and timelines are realistic for successful community engagement, effective community change, and long-term sustainability?

(137) Thursday, January 29, 2009 7:13 PM

These are extremely salient questions for future national conversations about genomics and its applications in health care. The white paper's focus on community based participatory research (CBPR) is important, as CBPR is a useful approach for engaging communities that have been historically underserved. There is considerable variation in what is considered "CBPR." From our perspective, shared decision-making authority and equal partnership between researchers and communities is vital. We hope that CBPR as implemented by NHGRI-sponsored efforts will include these important components. The paper's emphasis on including diverse communities in conversations about genetics research and policy is also laudable, and American Indian/Alaska Native communities should be included in these dialogues.

(151) Friday, January 30, 2009 1:30 PM

I'd like to echo previous comments that encourage you to think about "community engagement" as a two-way street. Investigators and academicians have a lot to learn from community members (clinicians, patients, administrators, educators, advocates, parents). Systematic approaches to gleaning that information ("getting educated" themselves) is critical to making academic endeavors relevant, applicable and feasible. The community is not an empty vessel waiting to be educated by academicians. With the right approach from the outset and for the life of a project, they can be invaluable partners.

(152) Friday, January 30, 2009 4:49 PM

Overall this lays out some great research areas and questions for the future. I agree with some of the other comments that public education and community engagement needs to be addressed as a relationship and not a dissemination effort. I think another important area of study is to look at the best ways to educate scientists on how to share their knowledge of genetics with the public. Most scientists now are trained in how to communicate their findings among colleagues and this education does not prepare them for how to present their findings to the general public in an engaging and clear manner.

(153) Friday, January 30, 2009 5:33 PM

How will this work?
the treatments for desease?
the dignosis?
and the needs of the community?

(161) Wednesday, February 11, 2009 10:57 AM

Education of health care providers is an important issue, however, it may take the "need to know" situation for the tipping point to occur for those already in practice. We can, perhaps, more directly affect the education of those currently in school so that it systematically includes genetics and genomic information throughout the curriculum. Maybe the direct to consumer (DTC) will provide this tipping point? What are the most effective efforts to educate health professionals? The idea behind Question 8 is right on target and is a possibly the most relevant thought. However, we may be setting ourselves up for failure if we truly think that "genomic education" in and of itself can motivate the population to make better choices. Funding is needed to train and support faculty to integrate genetics and genomics into curriculum as well as to implement continuing education programs in genetics and genomics. Would documentation of genetic/genomic continuing education at the time of license renewal be an effective effort? Lastly, the description under Community Engagement needs to be broadened to indicate that community engagement programs also support the community providing information back, not just academics teaching and disseminating. The model incorporating community concerns and feedback is noted in the specific questions under Community Engagement. Also, the Clinical Translational Science Award mechanism needs to be leveraged here as it has a large Community Engagement piece. Question 5 under Health Professional education states "what scientific and clinical research will best support and accelerate the integration of genetics and genomics into healthcare delivery and practice? One goal is to determine "how can an evidence-based process be used in the integration of genomics into personalized health?" Is personalize medicine truly the ultimate of patient centered care?

(167) Thursday, February 12, 2009 1:32 PM

Effective methods of informing the general public about genetics and genomics

(170) Monday, February 16, 2009 3:27 PM

With regard to public genomic education, a significant paradigm shift is needed.
Although knowledge of DNA and genes from a science perspective remains a critical aspect of K-12 education, it is time to move beyond a purely Mendelian approach. In many ways, instruction that culminates in teaching dominant versus recessive traits creates barriers to a more nuanced understanding of the genetic basis of health and disease.
Additionally, a shift, or at least an extension, that would encourage science instruction to encompass health education is needed. It is time for a basic understanding of genetics to be in the context of human health, as opposed to fruit flies and finches.
In developing new approaches, it is important that they be broad-based and widely accessible. What is learned in school needs to be available as a go-to resource for families and patients, extending beyond the environment of formal education.

(176) Monday, February 23, 2009 12:38 PM

Additional questions to consider:

Who should develop educational resources for health professionals? What role could or would patients and consumers have in the development of these resources?

What methods are needed to facilitate individualsý own assessment and evaluation of information, so they may determine for themselves what is quality genetic and genomic information?

What is the role of communities in promoting preventive behavior?

How will communities that have not been engaged in conversations about genomics and genetics research be identified? How is technology changing community engagement in genetics and genomics?

(194) Friday, February 27, 2009 4:46 PM

1.) More emphasis on special problems of and protection of children, both as current patients and future consumers.
2.) More emphasis on the imapct of genetic information on reproductive planning and research to better understand the most effective developmental point for education on this topic.
3.)Need research on public and patient education about genetically-based targeted treatments, attitudes towards return of results
4.) More about optimal professional roles in dealing with families of genetics patients,
5.) Need research on increasing knowldege of family history, verification, updating mechanisns with electronic records, etc.

(197) Friday, February 27, 2009 9:46 PM

This is a thoughtfully written, comprehensive set of research questions and priorities. The language and terms used are professional and inclusive (e.g., health professionals rather than ýphysiciansý).

Two additional groups who could benefit from genetics/genomics education include the media (science writers and reporters) and researchers in other scientific disciplines (to facilitate their involvement in transdisciplinary research). For instance, given that the media is a significant source of information in genetics/genomics (radio, TV, internet, newpaper and magazine articles), the following questions seem pertinent:

How much of the public's understanding of genetic information is based on information received from media sources? Does increased exposure to media information about genetics/genomics improve understanding of genetics/genomics concepts, or does it increase misperceptions? Does the accuracy of information by media outlet/venue differ (e.g., newspaper articles vs. magazine articles, etc.). How well educated are reporters who are writing about genetics/genomics? Which concepts are most important for reporters to learn/understand in order to accurately report scientific findings in genetics/genomics? How can reporters be better educated about basic concepts in genetics/genomics? What methods can be employed to reach out to the media community to partner with them in providing better genetics/genomics education to the general public?

As health and disease are the result of the complex interplay of genes and environmental variables across the lifespan, transdisciplinary research will become increasingly important in elucidating the underlying mechanisms of disease processes. Effective genetics/genomics education for scientists and researchers across disciplines will facilitate their involvement in transdisciplinary research and their ability to contribute to the conceptualization of gene-environment interactions. This should include professionals from basic science through clinical practice, and from the biological and physical sciences to the social and behavioral sciences. As such, the following questions might be considered:

What core concepts in genetics and genomics are most critical to teach scientists and researchers so that they can 1) effectively and critically understand research findings 2) effectively participate in collaborations with geneticists, 3)contribute to the design, analysis, and or interpretation of collaborative research studies, and 4) envision theories, methods, hypotheses, etc., founded on principles or insights from their own disciplines that can contribute to research advances in genetics/genomics and/or GxE research ?
What are the most effective methods to teach core concepts in genetics and genomics to research scientists? What educational formats provide the best comprehension vs. the broadest utilization/participation (e.g., DVDs, web-based information, short courses, junior and/or senior fellowships, institutional grants, dual-degree training programs, etc)?

Thanks for the opportunity to contribute to your long-range planning process.

(198) Friday, February 27, 2009 9:50 PM

The engagement and education of providers and the public regarding the implications of genomics for health and healthcare are extremely important topics. We notice, however, that the questions in this document often go well beyond education and community engagement, and overlap considerably with white paper #1. There is also a small overlap with the last bolded question of white paper #3. Therefore, we recommend either consolidation of this white paper into white papers #1 and 3, or a substantial narrowing of focus of each paper to the stated topic. As with white paper #1, we recommend incorporating the overall framework of evidence-based evaluation and the overall goal (of genetic interventions) of clinically significant incremental benefit to outcomes the patient can appreciate.

(205) Monday, March 2, 2009 2:53 PM

The Association for Molecular Pathology (AMP) is an international medical professional association representing approximately 1,600 physicians, doctoral scientists, and medical technologists who perform laboratory testing based on knowledge derived from molecular biology, genetics, and genomics. Since the beginning of our organization we have dedicated ourselves to the development and implementation of molecular diagnostic testing, which includes genetic testing in all its definitions, in a manner consistent with the highest standards established by the Clinical Laboratory Improvement Act (CLIA), the College of American Pathologists (CAP), the American College of Medical Genetics (ACMG), and the United States Food and Drug Administration (FDA). Our members lead and work at the majority of clinical molecular diagnostic laboratories in the United States as well as in laboratories in many other countries. We are frequently involved in the development of novel molecular tests, and in the validation of laboratory developed or commercial assays.

Thank you for the opportunity to comment on the White Papers in Phase 1 of NHGRIýs Long-range Planning project. Our comments are as follows:

White paper 3:
A Vision for the Future of Genomics: Education and Community Engagement

Q3, additional questions:
Who is going to provide the infrastructure and resources to educate health care providers. And how are such resources curated?

Q11, additional questions:
How can we best inform the public of the risks associated with freely sharing their genomic information with others (relatives, friends, companies)?

(209) Monday, March 2, 2009 2:58 PM

The white paperýs rhetorical questions cover long-standing concerns regarding education of healthcare providers and the public and incorporate those concerns of a more-immediate nature, occasioned by recent advances in genetics/ genomics. The urgent issue for NHGRI, and for medical geneticists in general, remains action ý those activities to be taken to meet the needs of the medical profession and the public.

The infrastructure to move genetic/ genomic information to the point-of-care/ point-of-contact with the public is neither fully developed nor implemented. Components are in place, but the requirements for a systematic and consistent delivery of timely and essential information are lacking.

Education, institutional and personal, largely has progressed beyond the written word, the physical seminar, and the annual meeting to the realm of electronic communication. Webinars and the web-site posting of evidence-based results, practice guidelines and data sets are advances, certainly. Educational modules for personal use on BlackberriesTM , iPodsTM, iPhonesTM and the like are becoming ever more available. Open architecture systems with underlying language commonality should make it possible to display information across a wide variety of user modalities. NHGRI should emphasize the leveraging of currently available platforms to place in the hands of medical practitioners, trainees, and the public the information they want and sorely need.

(210) Tuesday, March 3, 2009 5:04 PM

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