Assessing optimism and pessimism about genomic medicine: Development of a genomic orientation scale

Efforts to characterize stakeholder attitudes about the implementation of genomic medicine would benefit from a validated instrument for measuring public views of the potential benefits and harms of genomic technologies, which would facilitate comparison across populations and clinical settings. We sought to develop a scale to evaluate attitudes about the future of genomic medicine. We developed a 21-item scale that examined the likelihood of various outcomes of genomic medicine. The scale was administered to participants in a genomic sequencing study. Exploratory factor analysis was conducted and bivariate correlations were calculated. The genomic orientation (GO) scale was completed by 2895 participants. A two-factor structure was identified, corresponding to an optimism subscale (16 items, α = 0.89) and a pessimism subscale (5 items, α = 0.63). Genomic optimism was positively associated with a perceived value of genetic test results, higher health literacy, and decreased decisional conflict about participation in a genomic research study. Genomic pessimism was associated with concerns about genetic testing, lower health literacy, and increased decisional conflict about the decision to participate in the study. The GO scale is a promising tool for measuring both positive and negative views regarding the future of genomic medicine and deserves further validation.     

Qualitative study of system-level factors related to genomic implementation

PurposeResearch on genomic medicine integration has focused on applications at the individual level, with less attention paid to implementation within clinical settings. Therefore, we conducted a qualitative study using the Consolidated Framework for Implementation Research (CFIR) to identify system-level factors that played a role in implementation of genomic medicine within Implementing GeNomics In PracTicE (IGNITE) Network projects.MethodsUp to four study personnel, including principal investigators and study coordinators from each of six IGNITE projects, were interviewed using a semistructured interview guide that asked interviewees to describe study site(s), progress at each site, and factors facilitating or impeding project implementation. Interviews were coded following CFIR inner-setting constructs.ResultsKey barriers included (1) limitations in integrating genomic data and clinical decision support tools into electronic health records, (2) physician reluctance toward genomic research participation and clinical implementation due to a limited evidence base, (3) inadequate reimbursement for genomic medicine, (4) communication among and between investigators and clinicians, and (5) lack of clinical and leadership engagement.ConclusionImplementation of genomic medicine is hindered by several system-level barriers to both research and practice. Addressing these barriers may serve as important facilitators for studying and implementing genomics in practice.     

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.     

The current state of implementation science in genomic medicine: opportunities for improvement

PurposeThe objective of this study was to identify trends and gaps in the field of implementation science in genomic medicine.MethodsWe conducted a literature review using the Centers for Disease Control and Prevention’s Public Health Genomics Knowledge Base to examine the current literature in the field of implementation science in genomic medicine. We selected original research articles based on specific inclusion criteria and then abstracted information about study design, genomic medicine, and implementation outcomes. Data were aggregated, and trends and gaps in the literature were discussed.ResultsOur final review encompassed 283 articles published in 2014, the majority of which described uptake (35.7%, n = 101) and preferences (36.4%, n = 103) regarding genomic technologies, particularly oncology (35%, n = 99). Key study design elements, such as racial/ethnic composition of study populations, were underreported in studies. Few studies incorporated implementation science theoretical frameworks, sustainability measures, or capacity building.ConclusionAlthough genomic discovery provides the potential for population health benefit, the current knowledge base around implementation to turn this promise into a reality is severely limited. Current gaps in the literature demonstrate a need to apply implementation science principles to genomic medicine in order to deliver on the promise of precision medicine.Genet Med advance online publication 12 January 2017     

Impact of integrating genomic data into the electronic health record on genetics care delivery

PurposeIntegrating genomic data into the electronic health record (EHR) is key for optimally delivering genomic medicine.MethodsThe PennChart Genomics Initiative (PGI) at the University of Pennsylvania is a multidisciplinary collaborative that has successfully linked orders and results from genetic testing laboratories with discrete genetic data in the EHR. We quantified the use of the genomic data within the EHR, performed a time study with genetic counselors, and conducted key informant interviews with PGI members to evaluate the effect of the PGI’s efforts on genetics care delivery.ResultsThe PGI has interfaced with 4 genetic testing laboratories, resulting in the creation of 420 unique computerized genetic testing orders that have been used 4073 times to date. In a time study of 96 genetic testing activities, EHR use was associated with significant reductions in time spent ordering (2 vs 8 minutes, P < .001) and managing (1 vs 5 minutes, P < .001) genetic results compared with the use of online laboratory-specific portals. In key informant interviews, multidisciplinary collaboration and institutional buy-in were identified as key ingredients for the PGI’s success.ConclusionThe PGI’s efforts to integrate genomic medicine into the EHR have substantially streamlined the delivery of genomic medicine.     

The business of genomic testing: a survey of early adopters

PurposeThe practice of “genomic” (or “personalized”) medicine requires the availability of appropriate diagnostic testing. Our study objective was to identify the reasons for health systems to bring next-generation sequencing into their clinical laboratories and to understand the process by which such decisions were made. Such information may be of value to other health systems seeking to provide next-generation sequencing testing to their patient populations.MethodsA standardized open-ended interview was conducted with the laboratory medical directors and/or department of pathology chairs of 13 different academic institutions in 10 different states.ResultsGenomic testing for cancer dominated the institutional decision making, with three primary reasons: more effective delivery of cancer care, the perceived need for institutional leadership in the field of genomics, and the premise that genomics will eventually be cost-effective. Barriers to implementation included implementation cost; the time and effort needed to maintain this newer testing; challenges in interpreting genetic variants; establishing the bioinformatics infrastructure; and curating data from medical, ethical, and legal standpoints. Ultimate success depended on alignment with institutional strengths and priorities and working closely with institutional clinical programs.ConclusionThese early adopters uniformly viewed genomic analysis as an imperative for developing their expertise in the implementation and practice of genomic medicine.Genet Med16 12, 954–961.     

A nationally agreed cross-professional competency framework to facilitate genomic testing

PurposeThe study aimed to develop a nationally agreed, cross-professional competency framework outlining the knowledge, skills, and behaviors required to facilitate genomic tests.MethodsUsing principles of the nominal group technique, a consensus meeting with 25 experts mapped themes to an initial framework and voted on areas of inconsistency. A revised framework was open for consultation with health care professionals and patient communities before being published. An evaluation, using an online survey, was conducted to explore early use and factors to facilitate adoption of the framework.ResultsThe framework identified 8 competencies required to facilitate genomic tests. The evaluation (239 survey responses from health care professionals) indicated that the framework addresses a timely need among users and identified ways to improve awareness and accessibility for different health care professional groups.ConclusionThis framework can be used as a guide for best practice by health care professionals who request genomic tests. It can also provide a foundation to identify learning needs and structure training such that conversations about genomic testing can be delivered in a consistent manner across specialties. These competencies can also be used as a reference to evaluate how consent is facilitated in different specialty areas to enhance the responsible delivery of genomic medicine.     

“The Tip of the Iceberg”: Commentary on Sports,Health Inequity,and Trauma Exacerbated by COVID-19

ObjectiveTo discuss the relevance of system-level health inequities and their interplay with race in sports and athletic training, particularly during and after the coronavirus disease 2019 (COVID-19) pandemic.BackgroundHealth inequity is a systemic and longstanding concern with dire consequences that can have marked effects on the lives of minority patients. As a result of the unequal consequences of the COVID-19 pandemic, the magnitude of the outcomes from health inequity in all spheres of American health care is being brought to the fore. The discourse within athletic training practice and policy must shift to intentionally creating strategies that acknowledge and account for systemic health inequities in order to facilitate an informed, evidence-based, and safe return to sport within the new normal.ConclusionsTo continue to evolve the profession and solidify athletic trainers'' role in public health spaces post–COVID-19, professionals at all levels of athletic training practice and policy must intentionally create strategies that acknowledge and account for not only the social determinants of health but also the effects of racism and childhood trauma on overall health and well-being.     

Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting

PurposeThe goal of stratified medicine is to identify subgroups of patients with similar disease mechanisms and specific responses to treatments. To prepare for stratified clinical trials, genome-wide genetic analysis should occur across clinical areas to identify undiagnosed genetic diseases and new genetic causes of disease.MethodsTo advance genetically stratified medicine, we have developed and implemented broad exome sequencing infrastructure and research protocols at Columbia University Irving Medical Center/NewYork-Presbyterian Hospital.ResultsWe enrolled 4889 adult and pediatric probands and identified a primary result in 572 probands. The cohort was phenotypically and demographically heterogeneous because enrollment occurred across multiple specialty clinics (eg, epilepsy, nephrology, fetal anomaly). New gene-disease associations and phenotypic expansions were discovered across clinical specialties.ConclusionOur study processes have enabled the enrollment and exome sequencing/analysis of a phenotypically and demographically diverse cohort of patients within 1 tertiary care medical center. Because all genomic data are stored centrally with permission for longitudinal access to the electronic medical record, subjects can be recontacted with updated genetic diagnoses or for participation in future genotype-based clinical trials. This infrastructure has allowed for the promotion of genetically stratified clinical trial readiness within the Columbia University Irving Medical Center/NewYork-Presbyterian Hospital health care system.     

Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network

PurposeWhile there is growing scientific evidence for and significant advances in the use of genomic technologies in medicine, there is a significant lag in the clinical adoption and sustainability of genomic medicine. Here we describe the findings from the National Human Genome Research Institute’s (NHGRI) Implementing GeNomics In pracTicE (IGNITE) Network in identifying key constructs, opportunities, and challenges associated with driving sustainability of genomic medicine in clinical practice.MethodsNetwork members and affiliates were surveyed to identify key drivers associated with implementing and sustaining a genomic medicine program. Tallied results were used to develop and weigh key constructs/drivers required to support sustainability of genomic medicine programs.ResultsThe top three driver–stakeholder dyads were (1) genomic training for providers, (2) genomic clinical decision support (CDS) tools embedded in the electronic health record (EHR), and (3) third party reimbursement for genomic testing.ConclusionPriorities may differ depending on healthcare systems when comparing the current state of key drivers versus projected needs for supporting genomic medicine sustainability. Thus we provide gap-filling guidance based on IGNITE members’ experiences. Although results are limited to findings from the IGNITE network, their implementation, scientific, and clinical experience may be used as a road map by others considering implementing genomic medicine programs.     

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

PurposeNewborn genomic sequencing (nGS) has great potential to improve pediatric care. Parental interest and concerns about genomics are relatively unexplored. Understanding why parents decline research consent for nGS may reveal implementation barriers.MethodsWe evaluated parental interest in a randomized trial of nGS in well-baby and intensive care unit nursery settings. Interested families attended an informational enrollment session (ES) with a genetic counselor prior to consenting. Reason(s) for declining participation and sociodemographic associations were analyzed.ResultsOf 3860 eligible approached families, 10% attended ES, 67% of whom enrolled. Of 1760 families queried for decline reasons, 58% were uninterested in research. Among 499 families considering research, principal reasons for decline prior to ES included burdensome study logistics (48%), feeling overwhelmed postpartum (17%), and lack of interest/discomfort with genetic testing (17%). Decliners after ES more often cited concerns about privacy/insurability (41%) and uncertain/unfavorable results (23%).ConclusionLow interest in research and study logistics were major initial barriers to postpartum enrollment and are likely generic to many postpartum research efforts. Concerns over privacy and result implications were most commonly cited in decliners after ES. Understanding parental concerns around research nGS may inform future integration of nGS into newborn screening, predictive testing, and pediatric diagnostics.     

Understanding the potential of state-based public health genomics programs to mitigate disparities in access to clinical genetic services

PurposeState health agencies (SHAs) have developed public health genomics (PHG) programs that play an instrumental role in advancing precision public health, but there is limited research on their approaches. This study examines how PHG programs attempt to mitigate or forestall health disparities and inequities in the utilization of genomic medicine.MethodsWe compared PHG programs in three states: Connecticut, Michigan, and Utah. We analyzed 85 in-depth interviews with SHA internal and external collaborators and program documents. We employed a qualitative coding process to capture themes relating to health disparities and inequities.ResultsEach SHA implemented population-level approaches to identify individuals who carry genetic variants that increase risk of hereditary cancers. However, each SHA developed a unique strategy—which we label public health action repertoires—to reach specific subgroups who faced barriers in accessing genetic services. These strategies varied across states given demographics of the state population, state-level partnerships, and availability of healthcare services.ConclusionOur findings illustrate the imperative of tailoring PHG programs to local demographic characteristics and existing community resources. Furthermore, our study highlights how integrating genomics into precision public health will require multilevel, multisector collaboration to optimize efficacy and equity.     

Hope versus reality: Parent expectations of genomic testing

ObjectiveGenomics is increasingly used for diagnostic testing in children. This study describes the expectations of parents whose child received genomic testing and whether or not they were met.MethodsA diverse stratified, purposive sample of parents of 22 children in New York City was interviewed using a semi-structured guide. Genomic test results were positive, negative, or uncertain.ResultsParents expressed their expectations in narrative and numeric fashion. Parents expected that their child’s test would have a direct effect on their child’s diagnosis. Some believed that results would be definitive, while others recognized testing limitations. Expectations reflected parents’ hope to find a diagnosis and led to disappointment when results were uninformative or did not impact clinical management.ConclusionResults suggest pre-test genetic counseling emphasize the low likelihood of actionable results; however, parents’ expectations of genomics’ diagnostic capabilities are strongly rooted in their need to end the diagnostic odyssey and may be difficult to manage.Practice ImplicationsParents’ hope for a resolution and effective treatment for their child is a powerful context in which genetic counseling is heard. Clinicians who provide genomic testing should continue to acknowledge parents’ preconceptions. Additional research in other settings will help understand how to best address and manage parent expectations of genomic medicine.     

Successful recruitment and retention of diverse participants in a genomics clinical trial: a good invitation to a great party

PurposeAfrican ancestry (AA) individuals are inadequately included in translational genomics research, limiting generalizability of findings and benefits of genomic discoveries for populations already facing disproportionately poor health outcomes. We aimed to determine the impact of stakeholder-engaged strategies on recruitment and retention oF.A.A adult patients into a clinical trial testing them for renal risk variants nearly exclusive to AAs.MethodsOur academic–clinical–community team developed ten key strategies that recognize AAs' barriers and facilitators for participation. Using electronic health records (EHRs), we identified potentially eligible patients. Recruiters reached out through letters, phone calls, and at medical visits.ResultsOf 5481 AA patients reached, 51% were ineligible, 37% enrolled, 4% declined, 7% were undecided when enrollment finished. We retained 93% at 3-month and 88% at 12-month follow-up. Those enrolled are more likely female, seen at community sites, and reached through active strategies, than those who declined. Those retained are more likely female, health-literate, and older. While many patients have low income, low clinician trust, and perceive racism in health care, none of these attributes correlate with retention.ConclusionWith robust stakeholder engagement, recruiters from patients’ communities, and active approaches, we successfully recruited and retained AA patients into a genomic clinical trial.     

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.     

Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium

PurposeThere is a critical need for genomic medicine research that reflects and benefits socioeconomically and ancestrally diverse populations. However, disparities in research populations persist, highlighting that traditional study designs and materials may be insufficient or inaccessible to all groups. New approaches can be gained through collaborations with patient/community stakeholders. Although some benefits of stakeholder engagement are recognized, routine incorporation into the design and implementation of genomics research has yet to be realized.MethodsThe National Institutes of Health–funded Clinical Sequencing Evidence-Generating Research (CSER) consortium required stakeholder engagement as a dedicated project component. Each CSER project planned and carried out stakeholder engagement activities with differing goals and expected outcomes. Examples were curated from each project to highlight engagement strategies and outcomes throughout the research lifecycle from development through dissemination.ResultsProjects tailored strategies to individual study needs, logistical constraints, and other challenges. Lessons learned include starting early with engagement efforts across project stakeholder groups and planned flexibility to enable adaptations throughout the project lifecycle.ConclusionEach CSER project used more than 1 approach to engage with relevant stakeholders, resulting in numerous adaptations and tremendous value added throughout the full research lifecycle. Incorporation of community stakeholder insight improves the outcomes and relevance of genomic medicine research.     

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.     

Proposed outcomes measures for state public health genomic programs

PurposeTo assess the implementation of evidence-based genomic medicine and its population-level impact on health outcomes and to promote public health genetics interventions, in 2015 the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine formed an action collaborative, the Genomics and Public Health Action Collaborative (GPHAC). This group engaged key stakeholders from public/population health agencies, along with experts in the fields of health disparities, health literacy, implementation science, medical genetics, and patient advocacy.MethodsIn this paper, we present the efforts to identify performance objectives and outcome metrics. Specific attention is placed on measures related to hereditary breast ovarian cancer (HBOC) syndrome and Lynch syndrome (LS), two conditions with existing evidence-based genomic applications that can have immediate impact on morbidity and mortality.ResultsOur assessment revealed few existing outcome measures. Therefore, using an implementation research framework, 38 outcome measures were crafted.ConclusionEvidence-based public health requires outcome metrics, yet few exist for genomics. Therefore, we have proposed performance objectives that states might use and provided examples of a few state-level activities already under way, which are designed to collect outcome measures for HBOC and LS.