Challenges for precision public health communication in the era of genomic medicine

Although still in the early stages of development, the advent of fast, high-output, and cost-effective next-generation DNA sequencing technology is moving precision medicine into public health. Before this shift toward next-generation sequencing in public health settings, individual patients met geneticists after showing symptoms and through limited family screening. In the new era of precision public health, everyone is a possible participant in genetic sequencing, simply by being born (newborn screening), by donating blood (biobanking), or through population screening. These initiatives are increasingly offered to individuals throughout their life and more individuals are encountering opportunities to use DNA sequencing. This article raises awareness of these growing areas and calls for different models of public engagement and communication about genomics, including screening asymptomatic populations, obtaining consent for unspecified and unforeseen future uses of genomic data, and managing variants of uncertain significance. Given that such communication challenges loom large, established norms of practice in genomic medicine and research should be reconsidered.     

The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research

PurposeThis study aimed to understand broad data sharing decisions among predominantly underserved families participating in genomic research.MethodsDrawing on clinic observations, semistructured interviews, and survey data from prenatal and pediatric families enrolled in a genomic medicine study focused on historically underserved and underrepresented populations, this paper expands empirical evidence regarding genomic data sharing communication and decision-making.ResultsOne-third of parents declined to share family data, and pediatric participants were significantly more likely to decline than prenatal participants. The pediatric population was significantly more socioeconomically disadvantaged and more likely to require interpreters. Opt-in was tied to altruism and participants’ perception that data sharing was inherent to research participation. Opt-out was associated with privacy concerns and influenced by clinical staff’s presentation of data handling procedures. The ability of participants to make informed choices during enrollment about data sharing was weakened by suboptimal circumstances, which was revealed by poor understanding of data sharing in follow-up interviews as well as discrepancies between expressed participant desires and official recorded choices.ConclusionThese empirical data suggest that the context within which informed consent process is conducted in clinical genomics may be inadequate for respecting participants’ values and preferences and does not support informed decision-making processes.     

Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals

PurposeDeaf/hard of hearing (HoH) individuals can benefit from precision medicine research (PMR) but are underrepresented in mainstream health research and may experience barriers to participation. Understanding their views and concerns about PMR can inform processes to foster inclusion in future studies and reduce health disparities.MethodsWe administered an online disability-accessible survey to explore perceptions of PMR among, inter alia, deaf/HoH individuals. Questions included willingness to participate, interest in results, and barriers and facilitators to participation. Analyses describe results for participants who self-identified their primary condition as being deaf/HoH and compared results for key demographic characteristics.ResultsA total of 267 deaf/HoH participants completed the survey. Interest in PMR was high, although many reported inaccessible facilities and information about medical research; 51% reported that communication with health professionals is a barrier. Concerns about harm, lack of access to benefits, misinformed allocation decisions, and limited disability-relevant knowledge among researchers and health care providers were significant. Differences across racial, ethnic, and sex groups were observed and are discussed.ConclusionStrategies to remove barriers to participation of deaf/HoH individuals in PMR are suggested. Distrust is a major challenge for cohort diversity, and research is needed to identify measures to increase the trustworthiness of PMR endeavors.     

Crowdsourced health research studies: an important emerging complement to clinical trials in the public health research ecosystem

Background

Crowdsourced health research studies are the nexus of three contemporary trends: 1) citizen science (non-professionally trained individuals conducting science-related activities); 2) crowdsourcing (use of web-based technologies to recruit project participants); and 3) medicine 2.0 / health 2.0 (active participation of individuals in their health care particularly using web 2.0 technologies). Crowdsourced health research studies have arisen as a natural extension of the activities of health social networks (online health interest communities), and can be researcher-organized or participant-organized. In the last few years, professional researchers have been crowdsourcing cohorts from health social networks for the conduct of traditional studies. Participants have also begun to organize their own research studies through health social networks and health collaboration communities created especially for the purpose of self-experimentation and the investigation of health-related concerns.

Objective

The objective of this analysis is to undertake a comprehensive narrative review of crowdsourced health research studies. This review will assess the status, impact, and prospects of crowdsourced health research studies.

Methods

Crowdsourced health research studies were identified through a search of literature published from 2000 to 2011 and informal interviews conducted 2008-2011. Keyword terms related to crowdsourcing were sought in Medline/PubMed. Papers that presented results from human health studies that included crowdsourced populations were selected for inclusion. Crowdsourced health research studies not published in the scientific literature were identified by attending industry conferences and events, interviewing attendees, and reviewing related websites.

Results

Participatory health is a growing area with individuals using health social networks, crowdsourced studies, smartphone health applications, and personal health records to achieve positive outcomes for a variety of health conditions. PatientsLikeMe and 23andMe are the leading operators of researcher-organized, crowdsourced health research studies. These operators have published findings in the areas of disease research, drug response, user experience in crowdsourced studies, and genetic association. Quantified Self, Genomera, and DIYgenomics are communities of participant-organized health research studies where individuals conduct self-experimentation and group studies. Crowdsourced health research studies have a diversity of intended outcomes and levels of scientific rigor.

Conclusions

Participatory health initiatives are becoming part of the public health ecosystem and their rapid growth is facilitated by Internet and social networking influences. Large-scale parameter-stratified cohorts have potential to facilitate a next-generation understanding of disease and drug response. Not only is the large size of crowdsourced cohorts an asset to medical discovery, too is the near-immediate speed at which medical findings might be tested and applied. Participatory health initiatives are expanding the scope of medicine from a traditional focus on disease cure to a personalized preventive approach. Crowdsourced health research studies are a promising complement and extension to traditional clinical trials as a model for the conduct of health research.     

Structured approaches to implementation of clinical genomics: A scoping review

PurposeThis study aimed to assess the extent to which structured approaches to implementation of clinical genomics, proposed or adapted, are informed by evidence.MethodsA systematic approach was used to identify peer-reviewed articles and gray literature to report on 4 research questions:1. What structured approaches have been proposed to support implementation?2. To what extent are the structured approaches informed by evidence?3. How have structured approaches been deployed in the genomic setting?4. What are the intended outcomes of the structured approaches?ResultsA total of 30 unique structured approaches to implementation were reported across 23 peer-reviewed publications and 11 gray literature articles. Most approaches were process models, applied in the preadoption implementation phase, focusing on a “service” outcome. Key findings included a lack of implementation science theory informing the development/implementation of newly designed structured approaches in the genomic setting and a lack of measures to assess implementation effectiveness.ConclusionThis scoping review identified a significant number of structured approaches developed to inform the implementation of genomic medicine into clinical practice, with limited use of implementation science to support the process. We recommend the use of existing implementation science theory and the expertise of implementation scientists to inform the design of genomic programs being implemented into clinical care.     

Design and implementation of a national public health surveillance system in Jordan

Understanding and improving the health status of communities depend on effective public health surveillance. Adoption of new technologies, standardised case definitions and clinical guidelines for accurate diagnosis, and access to timely and reliable data, remains a challenge for public health surveillance systems however and existing public health surveillance systems are often fragmented, disease specific, inconsistent and of poor quality. We describe the application of an enterprise architecture approach to the design, planning and implementation of a national public health surveillance system in Jordan. This enabled a well planned and collaboratively supported system to be built and implemented using consistent standards for data collection, management, reporting and use. The system is case-based and integrated and employs mobile information technology to aid collection of real-time, standardised data to inform and improve decision-making at different levels of the health system.     

Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment

PurposePersistent inequities in genomic medicine and research contribute to health disparities. This analysis uses a context-specific and equity-focused strategy to evaluate enrollment patterns for Genomic Answers for Kids (GA4K), a large, metropolitan-wide genomic study on children.MethodsElectronic health records for 2247 GA4K study participants were used to evaluate the distribution of individuals by demographics (race, ethnicity, and payor type) and location (residential address). Addresses were geocoded to produce point density and 3-digit zip code maps showing local and regional enrollment patterns. Health system reports and census data were used to compare participant characteristics with reference populations at different spatial scales.ResultsRacial and ethnic minoritized and populations with low-income were underrepresented in the GA4K study cohort. Geographic variation demonstrates inequity in enrollment and participation among children from historically segregated and socially disadvantaged communities.ConclusionOur findings illustrate inequity in enrollment related to both GA4K study design and structural inequalities, which we suspect may exist for similar US-based studies. Our methods provide a scalable framework for continually evaluating and improving study design to ensure equitable participation in and benefits from genomic research and medicine. The use of high-resolution, place-based data represents a novel and practical means of identifying and characterizing inequities and targeting community engagement.     

Implementation of Public Health Genomics in Africa: Lessons from the COVID-19 pandemic,challenges, and recommendations

Public Health Genomics (PHG) is a relatively new field. The wide application of genomic technologies played a pivotal role in elucidating the full genomic sequence of the SARS-CoV-2 virus. This breakthrough proved to be the starting point in the manufacture of diagnostic kits and the subsequent making of vaccines. Beyond the COVID-19 pandemic, many African countries can take advantage of the various investments in genomic technologies to introduce and intensify the use of genomics for public health gain. Public Health Genomics effectively monitors, prevents, and manages non-communicable and infectious diseases. However, there are several challenges to implementing PHG in Africa. In this perspective article, we discuss the utilization of PHG during the COVID-19 pandemic, the lessons learned from using PHG to manage and contain the COVID-19 pandemic, as well as potential challenges Africa may face when putting PHG into practice compared to challenges of other regions. We also discuss our recommendations for overcoming these challenges.     

A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation

Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether HCPs should recontact these former patients. We present some findings interrogating the views of patients (or parents of patients) with a rare or undiagnosed condition about how such recontacting might be organised ethically and practically. Forty-one interviews were analysed thematically. Participants suggested a 'joint venture' model in which efforts to recontact are shared with HCPs. Some proposed an ICT-approach involving an electronic health record that automatically alerts them to potentially relevant updates. The need for rigorous privacy controls and transparency about who could access their data was emphasised. Importantly, these findings highlight that the lack of clarity about recontacting is a symptom of a wider problem: the lack of necessary infrastructure to pool genomic data responsibly, to aggregate it with other health data, and to enable patients/parents to receive updates. We hope that our findings will instigate a debate about the way responsibilities for recontacting under any joint venture model could be allocated, as well as the limitations and normative implications of using ICT as a solution to this intractable problem. As a first step to delineating responsibilities in the clinical setting, we suggest HCPs should routinely discuss recontacting with patients/parents, including the new information that should trigger a HCP to initiate recontact, as part of the consent process for genetic testing.     

Ethical issues in public health communication: Practical suggestions from a qualitative study on campaigns about organ donation in Switzerland

ObjectivesIn Switzerland, in spite of a positive attitude towards organ donation, the population seems to overlook the public health messages about it. Based on a qualitative study on campaigns about organ donation, the article aims to give practical suggestions to prevent undesirable effects in public health communication.MethodsThe study provides a linguistic analysis of the messages about organ donation produced by the Swiss Federal Office of Public Health. Such a method enables us to understand who communicates what, to whom, how and what for, and gives us empirical data to discuss ethical concerns in relation to the effects of public health messages.ResultsThe analysis shows that the messages, apart from those relying on the expertise of healthcare professionals, are based on the representation of lay persons. The latter strategy generates the depiction of imagined communities.ConclusionsBeyond the usual concerns relating to organ donation (e.g., consent, altruism), the analysis of FOPH messages indicates that ethical issues in public health communication are grounded on three relational dimensions (intersubjectivity, cooperation and equity).Practice implicationsA procedure assessing the ethical concerns of public health communication in terms of social identities and relational consequences could identify and prevent problems relating to the undesirable effects of messages.Availability of data and materialsThe datasets used and analysed during the current study are available from the corresponding author upon reasonable request     

Consumer health information technology in an adult public health primary care clinic: A heart health education feasibility study

Objective

To explore the feasibility and short term outcomes of using an interactive kiosk integrated into office flow to deliver health information in a primary care clinic.

Methods

Fifty-one adults with BMI ≥25 were randomly assigned to use a kiosk with attached devices to receive a six-week healthy eating/weight monitoring (intervention) or general health/BP monitoring (attention-control) program. Outcomes were measured at baseline, 8 weeks (post) and three month follow-up.

Results

Participants completed an average of 2.73 weekly sessions, with transportation and time given as limiting factors. They found the kiosk easy to use (97%), liked the touchscreen (94%), and would use the kiosk again (81%). Although there were no differences between groups, the 27 completing all assessments showed reduced weight (p = .02), and decreased systolic (p = .01) and diastolic BP (p < .001) at follow-up. Although healthy eating behaviors increased, the change was not statistically significant.

Conclusion

Using a kiosk within a clinic setting is a feasible method of providing health information and self-monitoring. Multi-session educational content can provide beneficial short-term outcomes in overweight adults.

Practice implications

A kiosk with attached peripherals in a clinic setting is a viable adjunct to provider education, particularly in medically underserved areas.     

Consumer health information technology in an adult public health primary care clinic: A heart health education feasibility study

ObjectiveTo explore the feasibility and short term outcomes of using an interactive kiosk integrated into office flow to deliver health information in a primary care clinic.MethodsFifty-one adults with BMI ≥25 were randomly assigned to use a kiosk with attached devices to receive a six-week healthy eating/weight monitoring (intervention) or general health/BP monitoring (attention-control) program. Outcomes were measured at baseline, 8 weeks (post) and three month follow-up.ResultsParticipants completed an average of 2.73 weekly sessions, with transportation and time given as limiting factors. They found the kiosk easy to use (97%), liked the touchscreen (94%), and would use the kiosk again (81%). Although there were no differences between groups, the 27 completing all assessments showed reduced weight (p = .02), and decreased systolic (p = .01) and diastolic BP (p < .001) at follow-up. Although healthy eating behaviors increased, the change was not statistically significant.ConclusionUsing a kiosk within a clinic setting is a feasible method of providing health information and self-monitoring. Multi-session educational content can provide beneficial short-term outcomes in overweight adults.Practice implicationsA kiosk with attached peripherals in a clinic setting is a viable adjunct to provider education, particularly in medically underserved areas.     

Challenges in the application of NGS in the clinical laboratory

Next-generation sequencing (NGS), also known as massively parallel sequencing, has revolutionized genomic research. The current advances in NGS technology make it possible to provide high resolution, high throughput HLA typing in clinical laboratories. The focus of this review is on the recent development and implementation of NGS in clinical laboratories. Here, we examine the critical role of NGS technologies in clinical immunology for HLA genotyping. Two major NGS platforms (Illumina and Ion Torrent) are characterized including NGS library preparation, data analysis, and validation. Challenges of NGS implementation in the clinical laboratory are also discussed, including sequencing error rate, bioinformatics, result interpretation, analytic sensitivity, as well as large data storage. This review aims to promote the broader applications of NGS technology in clinical laboratories and advocate for the novel applications of NGS to drive future research.     

Electronic health records in complementary and alternative medicine

OBJECTIVES: This paper investigates the potential for a standardised electronic health record (EHR) designed for conventional medicine also to be used by complementary and alternative medicine. METHOD: The research was undertaken using anonymised samples of patient records from homoeopathy practices, to investigate if the patient data could be modelled using the forthcoming joint European and International Standard for EHR Communications (ISO/EN 13606). The research deliberately did not consider the effectiveness of complementary and alternative medicine or the clinical evidence for any particular CAM practice or treatment. The focus was purely on the patient data captured routinely by CAM therapists, to determine whether current approaches to the representation and communication of EHRs could incorporate such records. RESULTS: Five homoeopathic patient records, authored by different practitioners in different practice settings, were re-represented in a structured form in conformance with the ISO/EN 13606 reference Model. A sixth practitioner confirmed that the transposition had been as faithful to the original records as was possible given some limitations in the clarity of the originals. CONCLUSION: The authors conclude that the ISO/EN 13606 model can be used to represent patient records from homoeopathy, including the evidence and reasoning used to arrive at a formulation and to determine the appropriate remedy. It is therefore feasible that future EHR systems adopting this standard could enable patient records to be shared between complementary and conventional medical practice, in support of integrated healthcare.     

Scope of coverage of medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine: A curriculum analysis

We appraised the scope of medical genetics and genomics concepts covered in the pre-clerkship programs of Canadian faculties of medicine through an analysis of course objectives. All course objectives linked to medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine were compiled. From this, the fraction of objectives dedicated to medical genetics and genomics was calculated. Course objectives were also categorized according to a curriculum and a competency classification. Of the 17 Canadian faculties of medicine, the complete set of course syllabi (5 faculties) or the listing of learning objectives (4 faculties) were obtained and reviewed. The fraction of learning objectives dedicated to medical genetics and genomics varied between 0.65% and 5.05%. From the objectives classification, “foundational knowledge” was most frequently covered (64% of the compiled objectives), while topics such as: “ethics and professionalism,” “communicate genetics information,” and “obtain specialist help” were covered by less than 5%. Coverage of medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine appears to be low. Genetics and genomics are playing a rapidly expanding role in healthcare and clinical practice and educational programs should consider this new reality.     

Towards precision medicine in sepsis: a position paper from the European Society of Clinical Microbiology and Infectious Diseases

BackgroundOur current understanding of the pathophysiology and management of sepsis is associated with a lack of progress in clinical trials, which partly reflects insufficient appreciation of the heterogeneity of this syndrome. Consequently, more patient-specific approaches to treatment should be explored.AimsTo summarize the current evidence on precision medicine in sepsis, with an emphasis on translation from theory to clinical practice. A secondary objective is to develop a framework enclosing recommendations on management and priorities for further research.SourcesA global search strategy was performed in the MEDLINE database through the PubMed search engine (last search December 2017). No restrictions of study design, time, or language were imposed.ContentThe focus of this Position Paper is on the interplay between therapies, pathogens, and the host. Regarding the pathogen, microbiologic diagnostic approaches (such as blood cultures (BCs) and rapid diagnostic tests (RDTs)) are discussed, as well as targeted antibiotic treatment. Other topics include the disruption of host immune system and the use of biomarkers in sepsis management, patient stratification, and future clinical trial design. Lastly, personalized antibiotic treatment and stewardship are addressed (Fig. 1).ImplicationsA road map provides recommendations and future perspectives. RDTs and identifying drug-response phenotypes are clear challenges. The next step will be the implementation of precision medicine to sepsis management, based on theranostic methodology. This highly individualized approach will be essential for the design of novel clinical trials and improvement of care pathways.