Utilization of geospatial distribution in the measurement of study cohort representativeness.

OBJECTIVE: The ability to apply results from a study to a broader population remains a primary objective in translational science. Distinct from intrinsic elements of scientific rigor, the extrinsic concept of generalization requires there be alignment between a study cohort and population in which results are expected to be applied. Widespread efforts have been made to quantify representativeness of study cohorts. These techniques, however, often consider the study and target cohorts as monolithic collections that can be directly compared. Overlooking known impacts to health from socio-demographic and environmental factors tied to individual's geographical location, and potentially obfuscating misalignment in underrepresented population subgroups. This manuscript introduces several measures to account for geographic information in the assessment of cohort representation. METHODS: Metrics were defined across two themes: First, measures of recruitment, to assess if a study cohort is drawn at an expected rate and in an expected geographical pattern with respect to individuals in a reference cohort. Second, measures of individual characteristics, to assess if the individuals in the study cohort accurately reflect the sociodemographic, clinical, and geographic diversity observed across a reference cohort while accounting for the geospatial proximity of individuals. RESULTS: As an empirical demonstration, methods are applied to an active clinical study examining asthma in Black/African American patients at a US Midwestern pediatric hospital. Results illustrate how areas of over- and under-recruitment can be identified and contextualized in light of study recruitment patterns at an individual-level, highlighting the ability to identify a subset of features for which the study cohort closely resembled the broader population. In addition they provide an opportunity to dive deeper into misalignments, to identify study cohort members that are in some way distinct from the communities for which they are expected to represent. CONCLUSION: Together, these metrics provide a comprehensive spatial assessment of a study cohort with respect to a broader target population. Such an approach offers researchers a toolset by which to target expected generalization of results derived from a given study.

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

PURPOSE: Persistent 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. METHODS: Electronic 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. RESULTS: Racial 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. CONCLUSION: Our 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.

Variability in 30-day major amputation rates following endovascular peripheral vascular intervention for critical limb ischemia.

Introduction: Patients with critical limb ischemia (CLI) can undergo endovascular peripheral vascular intervention (PVI) to restore blood flow and decrease risk of amputation. As a potential indicator of quality for CLI care, we sought to describe 30-day major amputation rates following PVI. We also examined rate variability, and patient-level and site-level factors predicting amputations, using a national electronic health record (EHR) database. Methods: Using the Cerner Health Facts de-identified EHR database, patients with CLI diagnosis codes undergoing PVI were identified. The rate of amputation within 30 days of PVI was calculated. Risk ratios predicting amputation were derived using a mixed effects Poisson regression model adjusting for 16 patient and clinical factors. Median risk ratios (MRRs) were calculated to quantify site-level variability in amputations. Results: A total of 20,204 PVI procedures for CLI from 179 healthcare sites were identified. Mean age at procedure was 69.0 ± 12.6 years, 58.0% were male, and 29.6% were persons of color. Amputation within 30 days of PVI occurred after 570 (2.8%) procedures. Malnutrition, previous amputation, diabetes, and being of Black race were predictors of amputation. Amputation rates across sites ranged from 0.0% to 10.0%. The unadjusted MRR was 1.40 (95% CI 1.35-1.46), which was attenuated after adjusting for patient-level factors (MRR 1.30, 95% CI 1.26-1.34) and site characteristics (MRR 1.11, 95% CI 1.09-1.13). Conclusions: Among PVI procedures for CLI treatment, 30-day amputation rates varied across institutions. Although patient-level factors explained some variability, site-level factors explained most variation in the rates of these outcomes.

Use of large scale EHR data to evaluate A1c utilization among sickle cell disease patients.

BACKGROUND: The glycated hemoglobin (A1c) test is not recommended for sickle cell disease (SCD) patients. We examine ordering patterns of diabetes-related tests for SCD patients to explore misutilization of tests among this underserved population. METHODS: We used de-identified electronic health record (EHR) data in the Cerner Health Facts™ (HF) data warehouse to evaluate the frequency of A1c and fructosamine tests during 2010 to 2016, for 37,151 SCD patients from 393 healthcare facilities across the United States. After excluding facilities with no A1c data, we defined three groups of facilities based on the prevalence of SCD patients with A1c test(s): adherent facilities (no SCD patients with A1c test(s)), minor non-adherent facilities, major non-adherent facilities. RESULTS: We determined that 11% of SCD patients (3927 patients) treated at 393 facilities in the US received orders for at least one A1c test. Of the 3927 SCD patients with an A1c test, only 89 patients (2.3%) received an order for a fructosamine test. At the minor non-adherent facilities, 5% of the SCD patients received an A1c test while 58% of the SCD patients at the least adherent facilities had at least one A1c test. Overall, the percent of A1c tests ordered for SCD patients between 2010 and 2016 remained similar. CONCLUSIONS: Inappropriate A1c test orders among a sickle cell population is a significant quality gap. Interventions to advance adoption of professional recommendations that advocate for alternate tests, such as fructosamine, can guide clinicians in test selection to reduce this quality gap are discussed. The informatics strategy used in this work can inform other largescale analyses of lab test utilization using de-identified EHR data.

Rates and Predictors of Using Opioids in the Emergency Department to Treat Migraine in Adolescents and Young Adults.

OBJECTIVES: This study aimed to determine the rate and context in which opioids are used to treat migraine in adolescents and young adults seen in emergency care settings. METHODS: Data from 2010 to 2016 in the Cerner Health Facts electronic health record data warehouse were analyzed using multilevel logistic regression to estimate the population likelihood of an opioid being used in the emergency department (ED) to treat a primary diagnosis of migraine in adolescents and young adults and to evaluate the extent to which this likelihood varies as a function of characteristics of the patient (age, sex, race, and insurance), encounter (referral source, provider specialty, and encounter duration and year), and ED (region, setting, size, payer mix, and academic status). RESULTS: The study identified 14,494 eligible ED encounters with unique patients, of which 23% involved an opioid. Likelihood of being treated with opioids was significantly higher for patients who were older, female, white, and seen by a surgeon and who had longer encounters and encounters earlier in the time period sampled. Sites varied widely in percentage of encounters involving opioids (mean, 26.4% ± 20.1%; range, 0-100%), with higher rates associated with smaller sites with relatively higher proportions of commercially insured patients. CONCLUSIONS: Use of opioids in the ED to treat migraine in youth is fairly common, with rate variation reflecting broader trends in for whom opioids tend to be more likely to be prescribed. These findings may be helpful for benchmarking and informing quality improvement efforts aimed at reducing unwarranted opioid exposure in youth.

Combined pembrolizumab and pegylated liposomal doxorubicin in platinum resistant ovarian cancer: A phase 2 clinical trial.

OBJECTIVE: Pegylated liposomal doxorubicin (PLD) in vitro may have immunomodulatory abilities and preclinical evidence suggests it synergizes with immune checkpoint blockade. We hypothesized that combining PLD and pembrolizumab would be active in patients with platinum-resistant ovarian cancer (PROC). METHODS: This was a single-arm, multi-center phase II trial. Eligible patients had PROC with ≤2 prior lines of cytotoxic therapy for recurrent or persistent disease. Twenty-six patients were enrolled and given pembrolizumab 200 mg intravenously (IV) every 3 weeks and PLD 40 mg/m2 IV every 4 weeks. Patients were assessed radiographically every 8 weeks. The primary endpoint was clinical benefit rate (CBR), defined as complete response (CR) + partial response (PR) + stable disease (SD) ≥24 weeks. The study was powered to detect an improvement in CBR from 25% to 50%, with rejection of the null hypothesis if at least 10 patients achieved clinical benefit. T-cell inflamed gene expression profiles (GEP) and PD-L1 were assessed and correlated with clinical outcome. RESULTS: Twenty-three patients were evaluable for best overall response. The study satisfied its primary endpoint, with 12 patients achieving clinical benefit for a CBR of 52.2% (95% CI 30.6-73.2%). There were 5 PRs (21.7%) and 1 CR (4.3%), for an overall response rate (ORR) of 26.1%. Six patients had SD lasting at least 24 weeks. Combination therapy was well tolerated without unexpected toxicities. CONCLUSIONS: The combination of pembrolizumab and PLD was manageable, without unexpected toxicities, and showed preliminary evidence of clinical benefit in the treatment of platinum resistant ovarian cancer. ORR and median PFS of combination therapy in this study was higher than historical comparisons of PLD alone or anti-PD-1/PD-L1 agents alone. TRIAL REGISTRATION: Clinicaltrials.gov identifier: NCT02865811.

Anterior cruciate ligament reconstructed females who pass or fail a functional test battery do not exhibit differences in knee joint landing biomechanics asymmetry before and after exercise.

PURPOSE: A functional test battery (FTB) has been proposed to evaluate the readiness of return to activity after ACLR. However, there is limited evidence documenting the usefulness of an FTB. Therefore, the purpose of the current investigation was to compare knee joint landing biomechanics asymmetry during double-leg jump landing (DLJL) and single-leg jump cutting (SLJC) between healthy females and ACLR females who pass (ACLR-pass) or fail (ACLR-fail) an FTB before and after the completion of a sustained exercise protocol. METHOD: Eighteen ACLR females (ten ACLR-pass and eight ACLR-fail) and twelve healthy females performed an FTB including The 2000 International Knee Documentation Committee Subjective Knee Evaluation Form, the Knee Outcome Survey Activities of Daily Living Scale, quadriceps strength, and single-leg hop tests. DLJL and SLJC knee joint biomechanics asymmetry were measured before and after exercise. RESULTS: During DLJL, there were significant main effects of group on peak anterior tibial shear force (ATSF) asymmetry [F(2,27) = 3.86, p < 0.05, [Formula: see text] = 0.214] and peak vertical ground reaction force (vGRF) asymmetry [F(2,27) = 3.34, p = 0.05, [Formula: see text] = 0.198]. During SLJC, there was a significant group main effect for peak ATSF asymmetry [F(2,27) = 3.494, p = 0.04, [Formula: see text] = 0.206]. CONCLUSION: ACLR-fail exhibited greater asymmetry in peak ATSF during DLJL and SLJC compared to healthy females. In addition, ACLR-pass exhibited greater asymmetry in peak ATSF and peak vGRF during DLJL and SLJC, respectively, compared to healthy females. However, ACLR-fail did not exhibit any significant differences in landing biomechanics asymmetry during either task compared with ACLR-pass. Furthermore, the completion of a sustained exercise protocol did not affect knee joint landing biomechanics asymmetry across groups. LEVEL OF EVIDENCE: II.

Variation among Consent Forms for Clinical Whole Exome Sequencing.

The goal of this study was to explore variation among informed consent documents for clinical whole exome sequencing (WES) in order to identify the level of consistency with the recommendations from the American College of Medical Genetics and Genomics (ACMG) and the Presidential Commission for the Study of Bioethical Issues (Bioethics Commission) regarding informed consent for clinical WES. Recommendations were organized into a framework of key points for analysis. Content analysis was conducted on a sample of informed consent documents for clinical WES downloaded from 18 laboratory websites. We observed considerable variability in the content of informed consent documents among the sample of 18 laboratories. The mean Flesch-Kincaid Grade Level, a measure of readability, of the consent forms was 10.8, above the recommended 8th grade level. For each of the individual ACMG and Bioethics Commission recommendations, the frequency of inclusion ranged from 11% to 100%. For the overall list of 18 consent items, inclusion ranged from 11 to 17 items (Mean = 13.44, Mode = 14). This analysis will be useful to laboratories that wish to create informed consent documents that comply with these recommendations. The consistent use of standardized informed consent process could improve communication between clinicians and patients and increase understanding of genetic testing.

The genomic CDS sandbox: An assessment among domain experts.

Genomics is a promising tool that is becoming more widely available to improve the care and treatment of individuals. While there is much assertion, genomics will most certainly require the use of clinical decision support (CDS) to be fully realized in the routine clinical setting. The National Human Genome Research Institute (NHGRI) of the National Institutes of Health recently convened an in-person, multi-day meeting on this topic. It was widely recognized that there is a need to promote the innovation and development of resources for genomic CDS such as a CDS sandbox. The purpose of this study was to evaluate a proposed approach for such a genomic CDS sandbox among domain experts and potential users. Survey results indicate a significant interest and desire for a genomic CDS sandbox environment among domain experts. These results will be used to guide the development of a genomic CDS sandbox.

User-centered design of multi-gene sequencing panel reports for clinicians.

The objective of this study was to develop a high-fidelity prototype for delivering multi-gene sequencing panel (GS) reports to clinicians that simulates the user experience of a final application. The delivery and use of GS reports can occur within complex and high-paced healthcare environments. We employ a user-centered software design approach in a focus group setting in order to facilitate gathering rich contextual information from a diverse group of stakeholders potentially impacted by the delivery of GS reports relevant to two precision medicine programs at the University of Maryland Medical Center. Responses from focus group sessions were transcribed, coded and analyzed by two team members. Notification mechanisms and information resources preferred by participants from our first phase of focus groups were incorporated into scenarios and the design of a software prototype for delivering GS reports. The goal of our second phase of focus group, to gain input on the prototype software design, was accomplished through conducting task walkthroughs with GS reporting scenarios. Preferences for notification, content and consultation from genetics specialists appeared to depend upon familiarity with scenarios for ordering and delivering GS reports. Despite familiarity with some aspects of the scenarios we proposed, many of our participants agreed that they would likely seek consultation from a genetics specialist after viewing the test reports. In addition, participants offered design and content recommendations. Findings illustrated a need to support customized notification approaches, user-specific information, and access to genetics specialists with GS reports. These design principles can be incorporated into software applications that deliver GS reports. Our user-centered approach to conduct this assessment and the specific input we received from clinicians may also be relevant to others working on similar projects.

A comparison of a multistate inpatient EHR database to the HCUP Nationwide Inpatient Sample.

BACKGROUND: The growing availability of electronic health records (EHRs) in the US could provide researchers with a more detailed and clinically relevant alternative to using claims-based data. METHODS: In this study we compared a very large EHR database (Health Facts©) to a well-established population estimate (Nationwide Inpatient Sample). Weighted comparisons were made using t-value and relative difference over diagnoses and procedures for the year 2010. RESULTS: The two databases have a similar distribution pattern across all data elements, with 24 of 50 data elements being statistically similar between the two data sources. In general, differences that were found are consistent across diagnosis and procedures categories and were specific to the psychiatric-behavioral and obstetrics-gynecology services areas. CONCLUSIONS: Large EHR databases have the potential to be a useful addition to health services researchers, although they require different analytic techniques compared to administrative databases; more research is needed to understand the differences.

Variation in antibiotic resistance patterns for children and adults treated at 166 non-affiliated US facilities using EHR data.

Background: Antibiotic resistance (AR) is a global public health threat. Surveillance of baseline AR and trends and emerging resistance among priority bacterial isolates with respect to the age of the patients and the type of healthcare setting are required due to differences in antimicrobial need and use in these populations. Methods: We performed a retrospective study using deidentified electronic health record (EHR) data in the Cerner Health Facts™ data warehouse. Antibiotic susceptibility data were extracted for all bacterial isolates of interest at 166 non-affiliated healthcare facilities reporting microbiology susceptibility results of the FDA recommended antibiotics between the years 2012 to 2017. We assessed and visualized the slope coefficient from linear regression to compare changes in resistance over time for the four patient care groups. Results: The trends in resistance rates to clinically relevant antibiotics were influenced by age and care setting. For example, ertapenem-resistant Enterobacter cloacae isolates from children overall increased significantly compared with adults (0.7% to 9.8%, 2.1% to 2.8%, P = 0.00013) and isolates from children in paediatric facilities increased significantly compared with facilities treating adults and children (0.1% to 27.1%, 0.9% to 3.8%, P = 0.0002). Conclusions: Large-scale analysis of EHR data from 166 facilities shows that AR patterns for some bug-drug combinations vary by care setting and patient age. We describe novel data visualizations to interpret large-scale EHR data on the prevalence and trends of AR that should influence antimicrobial prescribing and antimicrobial stewardship programme interventions.

Technical desiderata for the integration of genomic data into Electronic Health Records.

The era of "Personalized Medicine," guided by individual molecular variation in DNA, RNA, expressed proteins and other forms of high volume molecular data brings new requirements and challenges to the design and implementation of Electronic Health Records (EHRs). In this article we describe the characteristics of biomolecular data that differentiate it from other classes of data commonly found in EHRs, enumerate a set of technical desiderata for its management in healthcare settings, and offer a candidate technical approach to its compact and efficient representation in operational systems.

Effects of homosynaptic depression on spectral properties of H-reflex recordings.

The purpose of this study was to determine the effects of homosynaptic depression (HD) on spectral properties of the soleus (SOL) H-reflex. Paired stimulations, separated by 100 ms, were used to elicit an unconditioned and conditioned H-reflex in the SOL muscle of 20 participants during quiet standing. Wavelet and principal component analyses were used to analyze features of the time-varying spectral properties of the unconditioned and conditioned H-reflex. The effects of HD on spectral properties of the H-reflex signal were quantified by comparing extracted principal component scores. The analysis extracted two principal components: one associated with the intensity of the spectra and one associated with its frequency. The scores for both principal components were smaller for the conditioned H-reflex. HD decreases the spectral intensity and changes the spectral frequency of H-reflexes. These results suggest that HD changes the recruitment pattern of the motor units evoked during H-reflex stimulations, in that it not only decreases the intensity, but also changes the types of motor units that contribute to the H-reflex signal.

Spinal motor control differences between the sexes.

Activity-related knee joint dysfunction is more prevalent in females than males. One explanation for the discrepancy is differences in movement patterns between the sexes. However, the underlying mechanisms responsible for these differences remain unidentified. This study tested spinal motor control mechanisms influencing motor neuron pool output and subsequent muscle activation in 17 males and 17 females. The following variables were assessed at the soleus: the gain of the unconditioned H-reflex, gain of both intrinsic pre-synaptic inhibition (IPI) and extrinsic pre-synaptic inhibition (EPI), the level of recurrent inhibition (RI), the level of supraspinal drive determined by the ratio of the Vmax:Mmax (V-wave), electromechanical delay (EMD) and the rate of force development (RFD). The Wilks Lambda multivariate test of overall differences among groups was significant (p = 0.031). Univariate between-subjects tests revealed males had greater RI (p = 0.042). However, the sexes did not differ on any of the other variables tested. In conclusion, the sexes differ on modulation of spinal motor control. Specifically, RI, a post-synaptic regulator of force output, was greater in males.

Spectral properties of H-reflex recordings after an acute bout of whole-body vibration.

Although research supports the use of whole-body vibration (WBV) to improve neuromuscular performance, the mechanisms for these improvements remain unclear. The purpose of this study was to identify the effect of WBV on the spectral properties of electrically evoked H-reflex recordings in the soleus (SOL) muscle. The H-reflex recordings were measured in the SOL muscle of 20 participants before and after a bout of WBV. The H-reflexes were evoked every 15 seconds for 150 seconds after WBV. A wavelet procedure was used to extract spectral data, which were then quantified with a principle components analysis. Resultant principle component scores were used for statistical analysis. The analysis extracted 1 principle component associated with the intensity of the myoelectric spectra and 1 principle component associated with the frequency. The scores of the principle component that were related to the myoelectric intensity were smaller at 30 and 60 milliseconds after WBV than before WBV. The WBV transiently decreased the intensity of myoelectric spectra during electrically evoked contractions, but it did not influence the frequency of the spectra. The decrease in intensity likely indicates a smaller electrically evoked muscle twitch response, whereas the lack of change in frequency would indicate a similar recruitment pattern of motor units before and after WBV.

Lack of neuromuscular origins of adaptation after a long-term stretching program.

CONTEXT: Static stretching is commonly used during the treatment and rehabilitation of orthopedic injuries to increase joint range of motion (ROM) and muscle flexibility. Understanding the physiological adaptations that occur in the neuromuscular system as a result of long-term stretching may provide insight into the mechanisms responsible for changes in flexibility. OBJECTIVE: To examine possible neurological origins and adaptations in the Ia-reflex pathway that allow for increases in flexibility in ankle ROM, by evaluating the reduction in the synaptic transmission of Ia afferents to the motoneuron pool. DESIGN: Repeated-measures, case-controlled study. SETTING: Sports medicine research laboratory. PARTICIPANTS: 40 healthy volunteers with no history of cognitive impairment, neurological impairment, or lower extremity surgery or injury within the previous 12 mo. INTERVENTION: Presynaptic and postsynaptic mechanisms were evaluated with a chronic stretching pro- tocol. Twenty subjects stretched 5 times a wk for 6 wk. All subjects were measured at baseline, 3 wk, and 6 wk. MAIN OUTCOME MEASURES: Ankle-dorsiflexion ROM, Hmax:Mmax, presynaptic inhibition, and disynaptic reciprocal inhibition. RESULTS: Only ROM had a significant interaction between group and time, whereas the other dependent variables did not show significant differences. The experimental group had significantly improved ROM from baseline to 3 wk (mean 6.2 ± 0.9, P < .001), 3 wk to 6 wk (mean 5.0 ± 0.8, P < .001), and baseline to 6 wk (mean 11.2 ±0.9, P < .001). CONCLUSIONS: Ankle dorsiflexion increased by 42.25% after 6 wk of static stretching, but no significant neurological changes resulted at any point of the study, contrasting current literature. Significant neuromuscular origins of adaptation do not exist in the Ia-reflex-pathway components after a long-term stretching program as currently understood. Thus, any increases in flexibility are the result of other factors, potentially mechanical changes or stretch tolerance.

The use of virtual tools in narrowing the impact of health disparities in neurology.

The concept of Epilepsy Treatment Gap (ETG) refers to the proportion of people with epilepsy who are not being appropriately treated. The ETG in the USA approaches 10%, with historically underserved populations and rural populations disproportionately affected. The ETG in Low-and Middle-Income Countries (LMIC) is reported to be 5-10 times higher than in high-income countries. The growing availability of reliable internet access offers a unique opportunity to provide better care to children and adults with epilepsy. In this paper we explore various telehealth (TH) initiatives that have leveraged the availability of easy and free access to an internet connection in reducing the ETG in underserved regions of the world. We describe several interventions targeted to reach patients and providers in rural areas of the United States and in LMIC. First, we examine initiatives that were developed to improve patient access to coordinated care and education regarding epilepsy and seizures. Next, we describe an intervention designed to improve knowledge of epilepsy diagnosis and treatment for providers in LMIC. We conclude with a brief overview of the use of virtual tools in diminishing the ETG.

Standardized Health data and Research Exchange (SHaRE): promoting a learning health system.

Aggregate de-identified data from electronic health records (EHRs) provide a valuable resource for research. The Standardized Health data and Research Exchange (SHaRE) is a diverse group of US healthcare organizations contributing to the Cerner Health Facts (HF) and Cerner Real-World Data (CRWD) initiatives. The 51 facilities at the 7 founding organizations have provided data about more than 4.8 million patients with 63 million encounters to HF and 7.4 million patients and 119 million encounters to CRWD. SHaRE organizations unmask their organization IDs and provide 3-digit zip code (zip3) data to support epidemiology and disparity research. SHaRE enables communication between members, facilitating data validation and collaboration as we demonstrate by comparing imputed EHR module usage to actual usage. Unlike other data sharing initiatives, no additional technology installation is required. SHaRE establishes a foundation for members to engage in discussions that bridge data science research and patient care, promoting the learning health system.

A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.

OBJECTIVE: The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings. MATERIALS AND METHODS: Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy. RESULTS: Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address. DISCUSSION: Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them.