Methods for trustworthy nutritional recommendations NutriRECS (Nutritional Recommendations and accessible Evidence summaries Composed of Systematic reviews): a protocol

Background

Recent systematic reviews and editorials suggest that many organizations that produce nutritional guideline recommendations do not adhere to internationally recognized standards set forth by the Institute of Medicine (IoM), Guidelines International Network (GIN), Appraisal of Guidelines Research and Evaluation (AGREE), and Grading Recommendations, Assessment, Development and Evaluation (GRADE).

Methods

The potential solution is an independent group with content expertise and skilled in the methodology of systematic reviews and practice guidelines to produce trustworthy guideline recommendations, recommendations that are supported by publication in a top tier journal. The BMJ Rapid Recommendations project has recently demonstrated the feasibility and utility of this approach. Here, we are proposing trustworthy nutritional guideline recommendations based on internationally accepted guideline development standards, recommendations that will be informed by rigorous and novel systematic reviews of the benefits and harms associated with nutritional exposures, as well as studies on the values and preferences related to dietary behaviors among members of the international community.

Discussion

Adhering to international guideline standards, conducting high quality systematic reviews, and actively assessing the values and preferences of key stakeholders is expected to improve the quality of nutritional guidelines and their relevance to end-users, particularly patients and community members. We will send our work for peer review, and if found acceptable, we will publish our nutritional recommendations in top-tier general medicine journals.

     

Horizon scanning for translational genomic research beyond bench to bedside

PurposeThe dizzying pace of genomic discoveries is leading to an increasing number of clinical applications. In this report, we provide a method for horizon scanning and 1 year data on translational research beyond bench to bedside to assess the validity, utility, implementation, and outcomes of such applications.MethodsWe compiled cross-sectional results of ongoing horizon scanning of translational genomic research, conducted between 16 May 2012 and 15 May 2013, based on a weekly, systematic query of PubMed. A set of 505 beyond bench to bedside articles were collected and classified, including 312 original research articles; 123 systematic and other reviews; 38 clinical guidelines, policies, and recommendations; and 32 articles describing tools, decision support, and educational materials.ResultsMost articles (62%) addressed a specific genomic test or other health application; almost half of these (n = 180) were related to cancer. We estimate that these publications account for 0.5% of reported human genomics and genetics research during the same time.ConclusionThese data provide baseline information to track the evolving knowledge base and gaps in genomic medicine. Continuous horizon scanning of the translational genomics literature is crucial for an evidence-based translation of genomics discoveries into improved health care and disease prevention.Genet Med16 7, 535–538.     

An overview of recommendations and translational milestones for genomic tests in cancer

PurposeTo understand the translational trajectory of genomic tests in cancer screening, diagnosis, prognosis, and treatment, we reviewed tests that have been assessed by recommendation and guideline developers.MethodsFor each test, we marked translational milestones by determining when the genomic association with cancer was first discovered and studied in patients, and when a health application for a specified clinical use was successfully demonstrated and approved or cleared by the US Food and Drug Administration. To identify recommendations and guidelines, we reviewed the websites of cancer, genomic, and general guideline developers and professional organizations. We searched the in vitro diagnostics database of the US Food and Drug Administration for information, and we searched PubMed for translational milestones. Milestones were examined against type of recommendation, Food and Drug Administration approval or clearance, disease rarity, and test purpose.ResultsOf the 45 tests we identified, 9 received strong recommendations for their usage in clinical settings, 14 received positive but moderate recommendations, and 22 were not currently recommended. For 18 tests, two or more different sources had issued recommendations, with 67% concordance. Only five tests had Food and Drug Administration approval, and an additional five had clearance. The median time from discovery to recommendation statement was 14.7 years.ConclusionIn general, there were no associations found between translational trajectory and recommendation category.Genet Med 17 6, 431–440.     

Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics

Completion of the Human Genome Project, in conjunction with dramatic reductions in the cost of DNA sequencing and advances in translational research, is gradually ushering genomic discoveries and technologies into the practice of medicine. The rapid pace of these advances is opening up a gap between the knowledge available about the clinical relevance of genomic information and the ability of clinicians to include such information in their medical practices. This educational gap threatens to be rate limiting to the clinical adoption of genomics in medicine. Solutions will require not only a better understanding of the clinical implications of genetic discoveries but also training in genomics at all levels of professional development, including for individuals in formal training and others who long ago completed such training. The National Human Genome Research Institute has convened the Inter-Society Coordinating Committee for Physician Education in Genomics (ISCC) to develop and share best practices in the use of genomics in medicine. The ISCC has developed a framework for development of genomics practice competencies that may serve as a starting point for formulation of competencies for physicians in various medical disciplines.Genet Med16 11, 804–809.     

Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis

PurposeWe sought to assess the readiness of the United Kingdom(UK) National Health Service to implement a Genomic Medicine Service. We conducted a systematic literature review to identify what is known about factors related to the implementation of genomic medicine in routine health care and to draw out the implications for the UK and other settings.MethodsRelevant studies were identified in Web of Science and PubMed from their date of inception to April 2018. The review included primary research studies using quantitative, qualitative, or mixed methods, and systematic reviews. A narrative synthesis was conducted.ResultsFifty-five studies met our inclusion criteria. The majority of studies reviewed were conducted in the United States. We identified four domains: (1) systems, (2) training and workforce needs, (3) professional attitudes and values, and (4) the role of patients and the public.ConclusionMainstreaming genomic medicine into routine clinical practice requires actions at each level of the health-care system. Our synthesis emphasized the organizational, social, and cultural implications of reforming practice, highlighting that demonstration of clinical utility and cost-effectiveness, attending to the compatibility of genomic medicine with clinical principles, and involving and engaging patients are key to successful implementation.     

Alaska Native genomic research: perspectives from Alaska Native leaders,federal staff,and biomedical researchers

Meaningful engagement of Alaska Native (AN) tribes and tribal health organizations is essential in the conduct of socially responsible and ethical research. As genomics becomes increasingly important to advancements in medicine, there is a risk that populations not meaningfully included in genomic research will not benefit from the outcomes of that research. AN people have historically been underrepresented in biomedical research; AN underrepresentation in genomics research is compounded by mistrust based on past abuses, concerns about privacy and data ownership, and cultural considerations specific to this type of research. Working together, the National Human Genome Research Institute and two Alaska Native health organizations, Southcentral Foundation and the Alaska Native Health Board, cosponsored a workshop in July 2018 to engage key stakeholders in discussion, strengthen relationships, and facilitate partnership and consideration of participation of AN people in community-driven biomedical and genomic research. AN priorities related to translation of genomics research to health and health care, return of genomic results, design of research studies, and data sharing were discussed. This report summarizes the perspectives that emerged from the dialogue and offers considerations for effective and socially responsible genomic research partnerships with AN communities.     

Understanding and retention of the informed consent process among parents in rural northern Ghana

Background

In Nigeria, as in other developing countries, access to training in research ethics is limited, due to weak social, economic, and health infrastructure. The project described in this article was designed to develop the capacity of academic staff of the College of Medicine, University of Ibadan, Nigeria to conduct ethically acceptable research involving human participants.

Methods

Three in-depth interviews and one focus group discussion were conducted to assess the training needs of participants. A research ethics training workshop was then conducted with College of Medicine faculty. A 23-item questionnaire that assessed knowledge of research ethics, application of principles of ethics, operations of the Institutional Review Board (IRB) and ethics reasoning was developed to be a pre-post test evaluation of the training workshop. Ninety-seven workshop participants completed the questionnaire before and after the workshop; 59 of them completed a second post-test questionnaire one month after the workshop.

Results

The trainees came from a multi-disciplinary background including medicine, nursing, pharmacy, social science and laboratory science. The mean scores for knowledge of the principles of research ethics rose from 0.67 out of 3 points at pre-test to 2.25 at post-test (p < 0.05). Also, 42% correctly mentioned one international guideline or regulation at pretest, with most of those knowing of the Declaration of Helsinki. Trainees' knowledge of the operations of an IRB increased from 6.05 at pre-test to 6.29 at post test out of 7 points. Overall, participants retained much of the knowledge acquired from the workshop one month after its completion.

Conclusion

The training improved participants' knowledge of principles of research ethics, international guidelines and regulations and operations of IRBs. It thus provided an opportunity for research ethics capacity development among academic staff in a developing country institution.     

Lessons learned from the introduction of personalized genotyping into a medical school curriculum

PurposeThere is an expanding gap between the availability of direct-to-consumer whole genome testing and physician knowledge regarding interpretation of test results. Advances in the genomic literacy of health care providers will be necessary for genomics to exert its potential to affect clinical practice. However, implementation of a major shift in medical education to include genomics is not easily done. The purpose of this educational report is to describe efforts to incorporate knowledge of personalized medicine into a medical school curriculum.MethodsIn this report, we describe the experiences, both good and bad, of a multidisciplinary faculty group that examined ways to improve genomic education at Tufts University School of Medicine during a 16-month period.ResultsThe results of the faculty's deliberation process resulted in the use of anonymous, rather than student genomes, to teach material on genomic medicine.ConclusionIncreased medical school education regarding genomic analysis and personalized medicine is a necessity, both to be able to translate the advances made by the Human Genome Project into improvements in human health and to begin to think of diseases as disruptions in specific pathways. Our experiences illustrate that adding this material to a medical school curriculum is a complex process that deserves careful thought and broad discussion within the academic community.     

Communication teaching and assessment in medical education: an international consensus statement. Netherlands Institute of Primary Health Care

The importance of communication between doctors and patients has been well established, and there is growing acceptance of the need to teach and assess communication skills in medical schools. Faculty meeting at a consensus workshop during the International Conference on Teaching Communication in Medicine (Oxford, July 1996) generated a series of recommendations for developing and implementing teaching and assessment programmes. The points were refined in subsequent discussions with other interested groups, and endorsed in their current form by a workshop of teachers attending the Communication in Health Care Conference organized by NIVEL, the Netherlands Institute of Primary Health Care (Amsterdam, June 1998). While focused on medical schools, the eight recommendations highlighted in this consensus statement are also relevant to both graduate and continuing medical education programmes: (1) teaching and assessment should be based on a broad view of communication in medicine; (2) communication skills teaching and clinical teaching should be consistent and complementary; (3) teaching should define, and help students achieve, patient-centred communication tasks; (4) communication teaching and assessment should foster personal and professional growth; (5) there should be a planned and coherent framework for communication skills teaching; (6) students' ability to achieve communication tasks should be assessed directly; (7) communication skills teaching and assessment programmes should be evaluated; (8) faculty development should be supported and adequately resourced.     

What works in genomics education: outcomes of an evidenced-based instructional model for community-based physicians

PurposeEducation of practicing health professionals is likely to be one factor that will speed appropriate integration of genomics into routine clinical practice. Yet many health professionals, including physicians, find it difficult to keep up with the rapid pace of clinical genomic advances and are often uncomfortable using genomic information in practice.MethodsHaving identified the genomics educational needs of physicians in a Silicon Valley–area community hospital, we developed, implemented, and evaluated an educational course entitled Medicine’s Future: Genomics for Practicing Doctors. The course structure and approach were based on best practices in adult learning, including interactivity, case-based learning, skill-focused objectives, and sequential monthly modules.ResultsApproximately 20–30 physicians attended each module. They demonstrated significant gains in genomics knowledge and confidence in practice skills that were sustained throughout and following the course. Six months following the course, the majority of participants reported that they had changed their practice to incorporate skills learned during the course.ConclusionWe believe the adult-learning principles underlying the development and delivery of Medicine’s Future were responsible for participants’ outcomes. These principles form a model for the development and delivery of other genomics educational programs for health professionals.     

Barriers to integrating personalized medicine into clinical practice: a best-worst scaling choice experiment

PurposeAs advances in genomics make genome sequencing more affordable, the availability of new genome-based diagnostic and therapeutic strategies (i.e., personalized medicine) will increase. This wave will hit front-line physicians who may be faced with a plethora of patients’ expectations of integrating genomic data into clinical care. The objective of this study was to elicit the preferences of physicians about regarding applying personalized medicine in their clinical practice as these strategies become available.MethodsUsing a best–worst scaling (BWS) choice experiment, we estimated the relative importance of attributes that influence physicians’ decision for using personalized medicine. Six attributes were included in the BWS: type of genetic tests, training for genetic testing, clinical guidelines, professional fee, privacy protection laws, and cost of genetic tests. A total of 197 physicians in British Columbia completed the experiment. Using latent class analysis (LCA), we explored the physicians’ heterogeneities in preferences.Results“Type of genetic tests” had the largest importance, suggesting that the physicians’ decision was highly influenced by the availability of genetic tests for patients’ predisposition to diseases and/or drug response. “Training” and “guidelines” were the attributes with the next highest importance. LCA identified two classes of physicians. Relative to class 2, class 1 had a larger weight for the “type of genetic tests,” but smaller weights for “professional fee” and “cost of tests.”ConclusionWe measured relative importance of factors that affect the decision of physicians to incorporate personalized medicine in their practice. These results can be used to design the policies for supporting physicians and facilitating the use of personalized medicine in the future.Genet Med 2012:14(5):520–526     

Public Health Genomics knowledge and attitudes: A survey of public health educators in the United States

PurposeThis study assessed U.S. public health educators' attitudes toward genomic competencies, their awareness of efforts in the health promotion field to promote/incorporate genomics, and their basic & applied genomic knowledge.MethodsA total of 1607 public health educators, nationwide, responded to a web-based survey.ResultsThe sample comprised predominantly white (76.8%) female (83.9%) participants, with an average age of 40.1 years and 11.2 years of practice in public health education/promotion. Generally, participants had negative attitudes toward genomic competencies, low awareness, and deficient genomic knowledge. Although various socioeconomic characteristics (e.g., ethnicity, gender, and educational level) correlated with participants' attitudes, awareness, and genomic knowledge, training in genetics/genomics or public health genomics also exhibited a positive association. After we controlled for socioeconomic factors, awareness, training, and genomic knowledge remained significantly associated with respondents' attitudes toward genomic competencies.ConclusionAlthough this sample of public health educators had unfavorable attitudes and limited genomic knowledge, training seems to affect these variables. Thus, relevant training for this group of health professionals should be developed and advocated. Continuing education tools, focusing on public health genomics content, might be a venue for delivery of information and the development of favorable professional attitudes.     

Genetics/genomics education for nongenetic health professionals: a systematic literature review

PurposeThe completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals.MethodsFive electronic databases were searched from January 1990 to June 2016.ResultsForty-four studies met our inclusion criteria. There was a growing publication trend. Program participants were mainly physicians and nurses. The curricula, which were most commonly provided face to face, included basic genetics; applied genetics/genomics; ethical, legal, and social implications of genetics/genomics; and/or genomic competencies/recommendations in particular professional fields. Only one-third of the curricula were theory-based. The majority of studies adopted a pre-/post-test design and lacked follow-up data collection. Nearly all studies reported participants’ improvements in one or more of the following areas: knowledge, attitudes, skills, intention, self-efficacy, comfort level, and practice. However, most studies did not report participants’ age, ethnicity, years of clinical practice, data validity, and data reliability.ConclusionMany genetics/genomics education programs for nongenetic health professionals exist. Nevertheless, enhancement in methodological quality is needed to strengthen education initiatives.Genet Med advance online publication 20 October 2016     

The leadership behaviors needed to implement clinical genomics at scale: a qualitative study

PurposeTo investigate leadership in clinical genomics and identify likely implications of different leadership approaches for future implementation of clinical genomics.MethodsWe undertook 37 interviews in a cross-sectional qualitative study examining implementation of clinical genomics in Australia. Participants were either nongenetic medical specialists working with genomic initiatives (e.g., immunologists, nephrologists) or working at a service/organizational level (e.g., department heads, chief medical officers). We identified participants as genomic migrants (long-established practitioners) and genomic natives (those medical specialists coming into independent practice with genomic technology in situ). Data were analyzed deductively with reference to leadership approach.ResultsLeadership approaches were often blended or reported to iteratively support development of another. There was concern at both the absence or the excess of entrepreneurial leadership (i.e., risk-taking).ConclusionEntrepreneurial leadership is needed to promote innovativeness, risk-taking, and proactivity, essential in these early stages of clinical genomics. Shared decision-making is required from a wide range of clinicians, calling for both clinical and distributed leadership. Sharing leadership, and the potential loss of positional status from formal senior positions, may prove challenging to genomics “migrants,” who are essential for nurturing genomic “natives.” Clinicians will need support from their organizations and professional bodies to manage the transition.     

A parallel guideline development and formalization strategy to improve the quality of clinical practice guidelines

Purpose

Clinical practice guidelines often contain ambiguities, inconsistencies, and logical errors that hamper implementation of these guidelines in practice. As guideline formalization is useful to verify the logical structure, consistency, and completeness of guidelines, several authors have argued that the formalization of guidelines concurrent with their development may improve their quality. However, experiences with such a parallel guideline development and formalization approach have not yet been reported. The goal of this study was to develop such a strategy and evaluate its application in practice.

Methods

Existing methodologies for guideline development and guideline formalization were analyzed and used as a basis to develop a strategy in which guideline formalization is performed concurrently with guideline development. The developed strategy was applied in the development of a clinical practice guideline for cardiac rehabilitation.

Results

A parallel guideline development and formalization strategy was developed that intertwines the processes of guideline development and guideline formalization. Central assets are early involvement of guideline formalization specialists and formalization tools, cooperation between guideline authors and guideline formalization specialists in the development of clinical algorithms, access to domain knowledge when formalization identifies inconsistencies or omissions, and formal verification of the guideline model prior to guideline dissemination. This strategy was applied in the development of a guideline for cardiac rehabilitation and helped to identify several vague and inconsistent recommendations and impracticabilities in the narrative guidelines that could be resolved before publication. In addition, the strategy ensured consistency between the narrative and formalized guideline.

Conclusions

Based on our experience, formalizing a guideline concurrent with its development is feasible in practice and we recommend applying such a strategy as it can be beneficial to the quality of and consistency between the guideline's narrative and formalized version.     

“It’s something I’ve committed to longer term”: The impact of an immersion program for physicians on adoption of genomic medicine

ObjectiveTo foster implementation of genomic testing in medical care by providing a cadre of physicians with ‘hands on’ experience in genomics, positioning them as opinion leaders in their medical speciality. This paper presents qualitative evaluation of immediate outcomes, in particular its impact on peer interactions.MethodsProgram design and delivery was informed by implementation science, behavior change and experiential learning theories.Inductive content analysis of transcribed audio-recordings from semi-structured post-project interviews with all participants (n = 12) was conducted.ResultsParticipants reported the immersion experience improved their genomic capability, established them as credible genomic experts within their speciality and altered their practice in genomic medicine. Participants reported strengthening and widening of peer-to-peer and interdisciplinary communication, with both passive diffusion and active dissemination of information to peers. Some also became a resource for genetic professionals.ConclusionsGenomic immersion participants described elements which support sustained integration of an innovation, including immediate changes (e.g. use of genomic tests) and wider impacts (e.g. professional networks).Practice implicationsThis study supports a role for immersion as a successful strategy for enhancing engagement of non-geneticist physicians in genomics. Additional study is needed to understand how immersion experiences change the delivery of genomic services at the provider, practice and health system level.     

Making the GRADE in anaphylaxis management: Toward recommendations integrating values,preferences, context,and shared decision making

ObjectiveTo review GRADE (Grading of Recommendations Assessment, Development, and Evaluation) methods and discuss the clinical application of conditional recommendations in clinical guidelines, specifically in the context of anaphylaxis.Data SourcesArticles that described GRADE, evidence synthesis, evidence to recommendation frameworks, and shared decision making were used to discuss conditional recommendations of the 2020 Anaphylaxis GRADE guideline.Study SelectionsA narrative review detailing concepts of GRADE and approaches to translate conditional recommendations to individualized and contextualized patient care.ResultsGRADE methods encourage a nuanced relationship between certainty of evidence and strength of recommendations. Strength of recommendation must incorporate key factors, including the balance between benefits and harms, patient values and preferences, and resource allocation (costs), with equity, feasibility, and acceptability also often included as considerations. GRADE guidelines provide recommendations that are characterized by directionality (for or against) and strength (strong or conditional). A conditional recommendation is tailored to context and primarily applied through a lens of patient preferences related to the likelihood of outcomes of importance and a shared decision-making approach. Although the 2020 Anaphylaxis GRADE guideline better informs the practice of anaphylaxis prevention through (1) identification and mitigation of risk factors for biphasic anaphylaxis and (2) evaluation of the use of glucocorticoid and/or antihistamine pretreatment, all GRADE recommendations, although directional, are conditional and as such should not be universally applied to every circumstance.ConclusionClinical guidelines provide an important opportunity to critically appraise evidence and translate evidence to practice. Patients, practitioners, and policy makers should appreciate the strength of recommendation and certainty of evidence and understand how this affects guideline applicability and implementation.     

Venous thromboembolism and its prophylaxis in elective knee arthroplasty: An international perspective

IntroductionPatients undergoing knee arthroplasty are at high risk of developing post-operative deep vein thrombosis (DVT) or a pulmonary embolus (PE). Despite best efforts, the best prophylaxis for thromboembolic disease remains controversial. This article aims to update the reader on the newest guidelines concerning venous thromboembolism (VTE) prophylaxis for elective knee arthroplasty, highlighting their inconsistencies and why variations in recommendations exist.MethodsThe Medline database and the Internet were searched for VTE prophylaxis guidelines in English. 12 guidelines were found and compared. The comparison looked at the recommendations made, the grade of recommendation, the level of evidence available for these recommendations and any inconsistencies between the guidelines.ResultsNearly all the guidelines advocate the use of low molecular weight heparin (LMWH) and Fondaparinux. There is little consensus in terms of other recommended drugs, the doses, duration and their recommendation grades. There are marked differences in the methodologies adopted by the different guideline working-groups.ConclusionThere is still uncertainty about the optimal methods of thromboprophylaxis in elective knee arthroplasty. Although there are always going to be disagreements about the endpoints amongst guideline makers, guidelines should achieve uniformity in their reporting of end-points, criteria for levels of evidence and recommendation grades, facilitating the clinician's decision-making process.Level of evidenceIIa.     

Are electronic health records ready for genomic medicine?

PurposeThe goal of this project was to assess genetic/genomic content in electronic health records.MethodsSemistructured interviews were conducted with key informants. Questions addressed documentation, organization, display, decision support and security of family history and genetic test information, and challenges and opportunities relating to integrating genetic/genomics content in electronic health records.ResultsThere were 56 participants: 10 electronic health record specialists, 18 primary care clinicians, 16 medical geneticists, and 12 genetic counselors. Few clinicians felt their electronic record met their current genetic/genomic medicine needs. Barriers to integration were mostly related to problems with family history data collection, documentation, and organization. Lack of demand for genetics content and privacy concerns were also mentioned as challenges. Data elements and functionality requirements that clinicians see include: pedigree drawing; clinical decision support for familial risk assessment and genetic testing indications; a patient portal for patient-entered data; and standards for data elements, terminology, structure, interoperability, and clinical decision support rules. Although most said that there is little impact of genetics/genomics on electronic records today, many stated genetics/genomics would be a driver of content in the next 5–10 years.ConclusionsElectronic health records have the potential to enable clinical integration of genetic/genomic medicine and improve delivery of personalized health care; however, structured and standardized data elements and functionality requirements are needed.