Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.

PURPOSE: As population-based screening programs to identify genetic conditions in adults using genomic sequencing (GS) are increasingly available, validated patient-centered outcome measures are needed to understand participants' experience. We aimed to develop and validate an instrument to assess the perceived utility of GS in the context of adult screening. METHODS: Informed by a 5-domain conceptual model, we used a 5-step approach to instrument development and validation: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. Adults undergoing risk-based or population-based GS who had received GS results as part of ongoing research studies participated in structured cognitive interviews and 2 rounds of surveys. After item pool refinement, we conducted an exploratory factor analysis and calculated Pearson correlations with related instruments. RESULTS: We derived the 18-item Adult Screening version of the GENEtic Utility scale (total sum score α = .87). Mirroring the Pediatric Diagnostic version, the instrument has a 2-factor structure, including an Informational Utility subscale (14 items, α = .89) and an Emotional Utility subscale (4 items, α = .75). The Informational Utility subscale was strongly associated with empowerment and personal utility of GS. Correlations of the Emotional Utility subscale with psychosocial impact and anxiety and depression were weak to moderate. CONCLUSION: Initial psychometric testing of the Adult Screening GENEtic Utility scale demonstrates its promise, and additional validation in translational genomics research is warranted.

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing.

PURPOSE: Measuring the effects of genomic sequencing (GS) on patients and families is critical for translational research. We aimed to develop and validate an instrument to assess parents' perceived utility of pediatric diagnostic GS. METHODS: Informed by a 5-domain conceptual model, the study comprised 5 steps: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. Parents of pediatric patients who had received results of clinically indicated GS participated in structured cognitive interviews and 2 rounds of surveys. After eliminating items based on theory and quantitative performance, we conducted an exploratory factor analysis and calculated Pearson correlations with related instruments. RESULTS: We derived the 21-item Pediatric Diagnostic version of the GENEtic Utility (GENE-U) scale, which has a 2-factor structure that includes an Informational Utility subscale (16 items, α = 0.91) and an Emotional Utility subscale (5 items, α = 0.71). Scores can be summed to calculate a Total scale score (α = 0.87). The Informational Utility subscale was strongly associated with empowerment and personal utility of GS, and the Emotional Utility subscale was moderately associated with psychosocial impact and depression and anxiety. CONCLUSION: The pediatric diagnostic GENE-U scale demonstrated good psychometric performance in this initial evaluation and could be a useful tool for translational genomics researchers, warranting additional validation.

Parents' Perspectives on Secondary Genetic Ancestry Findings in Pediatric Genomic Medicine.

PURPOSE: With advances in genome sequencing technologies, large-scale genome-wide sequencing has advanced our understanding of disease risk and etiology and contributes to the rapidly expanding genomic health services in pediatric settings. Because it is possible to return ancestry estimates following clinical genomic sequencing, it is important to understand the interest in ancestry results among families who may have the option of receiving these results. METHODS: We conducted 26 semi-structured qualitative telephone interviews of parents with children/newborns with likely genetic conditions from two studies of clinical genome sequencing. Using a purposive sampling approach, we selected parents from the SouthSeq cohort, Clinical Sequencing Evidence-Generating Research (CSER Phase 2) project active in Alabama, Mississippi, and Louisiana, or an earlier Clinical Sequencing Exploratory Research (CSER Phase 1) initiative based in the same region. Our interviews focused on parental knowledge about, attitudes on, interest in, and preferences for receiving genetic ancestry results following clinical genome sequencing in the neonatal intensive care unit or in pediatric clinics. FINDINGS: Overall, parents prioritized clinical results or results that would help guide the diagnosis and treatment of their child, but they were also interested in any genetic result, including genetic ancestry, that potentially could enhance the meaning of information on disease risk, prevention and screening guidance, or family planning. While parents thought that ancestry results would help them learn about themselves and their heritage, the had concerns over the privacy, security, and accuracy of genetic ancestry information, although parents indicated that they had greater trust in ancestry findings provided as part of clinical care compared with those offered commercially. Parents also wanted ancestry results to be returned in a timely manner by knowledgeable staff, with kid-friendly materials and online tools available to aid, as needed, in the understanding of their results. IMPLICATIONS: Taken together, our results highlight that despite being in high-stress situations, such as having a newborn in the neonatal intensive care unit, parents were interested in receiving genetic ancestry results along with their clinically relevant findings.

Reassessing surgical guidelines for papillary thyroid cancer impact on survival: Expanding indications for lobectomy.

BACKGROUND: Comparisons of lobectomy versus total thyroidectomy for papillary thyroid cancer have not addressed significant threats to valid inference from observational data. The purpose of this study was to compare survival after lobectomy versus total thyroidectomy for papillary thyroid cancer while addressing bias from unmeasured confounding. METHODS: This retrospective cohort study included 84,300 patients treated with lobectomy or total thyroidectomy for papillary thyroid cancer in the National Cancer Database from 2004 to 2017. The primary outcome was overall survival evaluated by flexible parametric survival models and inverse probability weighting on the propensity score. Bias from unobserved confounding was assessed using two-way deterministic sensitivity analysis and 2-stage least squares regression. RESULTS: The median age of treated patients was 48 years (interquartile range, 37-59), 78% were women, and 76% were white. We found no statistically significant differences in overall survival or 5- and 10-year survival between patients treated with lobectomy or total thyroidectomy. Additionally, we found no statistically significant difference in survival by subgroups, including tumor size (<4 cm or ≥4 cm), age (<65 or ≥65), or estimated risk of mortality. Sensitivity analyses suggested that an unmeasured confounder would need to have an extremely large effect to change the primary finding. CONCLUSION: This is the first study to compare lobectomy and total thyroidectomy outcomes while adjusting for and quantifying the potential effects of unmeasured confounding variables on observational data. The findings suggest that total thyroidectomy is unlikely to offer a survival advantage over lobectomy regardless of tumor size, patient age, or overall risk of death.

Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.

BACKGROUND: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents' experiences with GS as a first-line diagnostic tool for infants with suspected genetic conditions in the NICU. METHODS: Parents of newborns (N = 62) suspected of having a genetic condition were recruited across five hospitals in the southeast United States as part of the SouthSeq study. Semi-structured interviews (N = 78) were conducted after parents received their child's sequencing result (positive, negative, or variants of unknown significance). Thematic analysis was performed on all interviews. RESULTS: Key themes included that (1) GS in infancy is important for reproductive decision making, preparing for the child's future care, ending the diagnostic odyssey, and sharing results with care providers; (2) the timing of disclosure was acceptable for most parents, although many reported the NICU environment was overwhelming; and (3) parents deny that receiving GS results during infancy exacerbated parent-infant bonding, and reported variable impact on their feelings of guilt. CONCLUSION: Parents reported that GS during the neonatal period was useful because it provided a "backbone" for their child's care. Parents did not consistently endorse negative impacts like interference with parent-infant bonding.

Prevalence and correlates of high-dose opioid use among survivors of head and neck cancer.

BACKGROUND: We characterized prescription opioid medication use up to 2 years following the head and neck cancer (HNC) diagnosis and examined associations with moderate or high daily opioid prescription dose. METHODS: Using administrative data from Veterans Health Administration, we conducted a retrospective cohort analysis of 5522 Veterans treated for cancers of the upper aerodigestive tract between 2012 and 2019. Data included cancer diagnosis and treatments, pain severity, prescription opioid characteristics, demographics, and other clinical factors. RESULTS: Two years post-HNC, 7.8% (n = 428) were receiving moderate or high-dose opioid therapy. Patients with at least moderate pain (18%, n = 996) had 2.48 times higher odds (95% CI = 1.94-3.09, p < 0.001) to be prescribed a moderate opioid dose or higher at 2 years post diagnosis. CONCLUSIONS: Survivors of HNC with at least moderate pain were at elevated risk of continued use of moderate and high dose opioids.

Factors Associated With Long COVID Symptoms in an Online Cohort Study.

Background: Few prospective studies of Long COVID risk factors have been conducted. The purpose of this study was to determine whether sociodemographic factors, lifestyle, or medical history preceding COVID-19 or characteristics of acute severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection are associated with Long COVID. Methods: In March 26, 2020, the COVID-19 Citizen Science study, an online cohort study, began enrolling participants with longitudinal assessment of symptoms before, during, and after SARS-CoV-2 infection. Adult participants who reported a positive SARS-CoV-2 test result before April 4, 2022 were surveyed for Long COVID symptoms. The primary outcome was at least 1 prevalent Long COVID symptom greater than 1 month after acute infection. Exposures of interest included age, sex, race/ethnicity, education, employment, socioeconomic status/financial insecurity, self-reported medical history, vaccination status, variant wave, number of acute symptoms, pre-COVID depression, anxiety, alcohol and drug use, sleep, and exercise. Results: Of 13 305 participants who reported a SARS-CoV-2 positive test, 1480 (11.1%) responded. Respondents' mean age was 53 and 1017 (69%) were female. Four hundred seventy-six (32.2%) participants reported Long COVID symptoms at a median 360 days after infection. In multivariable models, number of acute symptoms (odds ratio [OR], 1.30 per symptom; 95% confidence interval [CI], 1.20-1.40), lower socioeconomic status/financial insecurity (OR, 1.62; 95% CI, 1.02-2.63), preinfection depression (OR, 1.08; 95% CI, 1.01-1.16), and earlier variants (OR = 0.37 for Omicron compared with ancestral strain; 95% CI, 0.15-0.90) were associated with Long COVID symptoms. Conclusions: Variant wave, severity of acute infection, lower socioeconomic status, and pre-existing depression are associated with Long COVID symptoms.

Conducting clinical genomics research during the COVID-19 pandemic: Lessons learned from the CSER consortium experience.

Clinical research studies have navigated many changes throughout the COVID-19 pandemic. We sought to describe the pandemic's impact on research operations in the context of a clinical genomics research consortium that aimed to enroll a majority of participants from underrepresented populations. We interviewed (July to November 2020) and surveyed (May to August 2021) representatives of six projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium, which studies the implementation of genome sequencing in the clinical care of patients from populations that are underrepresented in genomics research or are medically underserved. Questions focused on COVID's impact on participant recruitment, enrollment, and engagement, and the transition to teleresearch. Responses were combined and thematically analyzed. Projects described factors at the project, institutional, and community levels that affected their experiences. Project factors included the project's progress at the pandemic's onset, the urgency of in-person clinical care for the disease being studied, and the degree to which teleresearch procedures were already incorporated. Institutional and community factors included institutional guidance for research and clinical care and the burden of COVID on the local community. Overall, being responsive to community experiences and values was essential to how CSER navigated evolving challenges during the COVID-19 pandemic.

Factors Associated with Long Covid Symptoms in an Online Cohort Study.

Importance: Prolonged symptoms following SARS-CoV-2 infection, or Long COVID, is common, but few prospective studies of Long COVID risk factors have been conducted. Objective: To determine whether sociodemographic factors, lifestyle, or medical history preceding COVID-19 or characteristics of acute SARS-CoV-2 infection are associated with Long COVID. Design: Cohort study with longitudinal assessment of symptoms before, during, and after SARS-CoV-2 infection, and cross-sectional assessment of Long COVID symptoms using data from the COVID-19 Citizen Science (CCS) study. Setting: CCS is an online cohort study that began enrolling March 26, 2020. We included data collected between March 26, 2020, and May 18, 2022. Participants: Adult CCS participants who reported a positive SARS-CoV-2 test result (PCR, Antigen, or Antibody) more than 30 days prior to May 4, 2022, were surveyed. Exposures: Age, sex, race/ethnicity, education, employment, socioeconomic status/financial insecurity, self-reported medical history, vaccination status, time of infection (variant wave), number of acute symptoms, pre-COVID depression, anxiety, alcohol and drug use, sleep, exercise. Main Outcome: Presence of at least 1 Long COVID symptom greater than 1 month after acute infection. Sensitivity analyses were performed considering only symptoms beyond 3 months and only severe symptoms. Results: 13,305 participants reported a SARS-CoV-2 positive test more than 30 days prior, 1480 (11.1% of eligible) responded to a survey about Long COVID symptoms, and 476 (32.2% of respondents) reported Long COVID symptoms (median 360 days after infection).Respondents' mean age was 53 and 1017 (69%) were female. Common Long COVID symptoms included fatigue, reported by 230/476 (48.3%), shortness of breath (109, 22.9%), confusion/brain fog (108, 22.7%), headache (103, 21.6%), and altered taste or smell (98, 20.6%). In multivariable models, number of acute COVID-19 symptoms (OR 1.30 per symptom, 95%CI 1.20-1.40), lower socioeconomic status/financial insecurity (OR 1.62, 95%CI 1.02-2.63), pre-infection depression (OR 1.08, 95%CI 1.01-1.16), and earlier variants (OR 0.37 for Omicron compared to ancestral strain, 95%CI 0.15-0.90) were associated with Long COVID symptoms. Conclusions and Relevance: Variant wave, severity of acute infection, lower socioeconomic status and pre-existing depression are associated with Long COVID symptoms. Key Points: Question: What are the patterns of symptoms and risk factors for Long COVID among SARS-CoV-2 infected individuals?Findings: Persistent symptoms were highly prevalent, especially fatigue, shortness of breath, headache, brain fog/confusion, and altered taste/smell, which persisted beyond 1 year among 56% of participants with symptoms; a minority of participants reported severe Long COVID symptoms. Number of acute symptoms during acute SARS-CoV-2 infection, financial insecurity, pre-existing depression, and infection with earlier variants are associated with prevalent Long COVID symptoms independent of vaccination, medical history, and other factors.Meaning: Severity of acute infection, SARS-CoV-2 variant, and financial insecurity and depression are associated with Long COVID symptoms.

The U.S. COVID-19 County Policy Database: a novel resource to support pandemic-related research.

BACKGROUND: It is increasingly recognized that policies have played a role in both alleviating and exacerbating the health and economic consequences of the COVID-19 pandemic. There has been limited systematic evaluation of variation in U.S. local COVID-19-related policies. This study introduces the U.S. COVID-19 County Policy (UCCP) Database, whose objective is to systematically gather, characterize, and assess variation in U.S. county-level COVID-19-related policies. METHODS: In January-March 2021, we collected an initial wave of cross-sectional data from government and media websites for 171 counties in 7 states on 22 county-level COVID-19-related policies within 3 policy domains that are likely to affect health: (1) containment/closure, (2) economic support, and (3) public health. We characterized the presence and comprehensiveness of policies using univariate analyses. We also examined the correlation of policies with one another using bivariate Spearman's correlations. Finally, we examined geographical variation in policies across and within states. RESULTS: There was substantial variation in the presence and comprehensiveness of county policies during January-March 2021. For containment and closure policies, the percent of counties with no restrictions ranged from 0% (for public events) to more than half for public transportation (67.8%), hair salons (52.6%), and religious gatherings (52.0%). For economic policies, 76.6% of counties had housing support, while 64.9% had utility relief. For public health policies, most were comprehensive, with 70.8% of counties having coordinated public information campaigns, and 66.7% requiring masks outside the home at all times. Correlations between containment and closure policies tended to be positive and moderate (i.e., coefficients 0.4-0.59). There was variation within and across states in the number and comprehensiveness of policies. CONCLUSIONS: This study introduces the UCCP Database, presenting granular data on local governments' responses to the COVID-19 pandemic. We documented substantial variation within and across states on a wide range of policies at a single point in time. By making these data publicly available, this study supports future research that can leverage this database to examine how policies contributed to and continue to influence pandemic-related health and socioeconomic outcomes and disparities. The UCCP database is available online and will include additional time points for 2020-2021 and additional counties nationwide.

Veteran Engagement in Health Services Research: a Conceptual Model.

With 20 million living veterans and millions more immediate family members, and approximately 9 million veterans enrolled in the nationally networked VA healthcare system, representing the interests and needs of veterans in this complex community is a substantial endeavor. Based on the importance of engaging Veterans in research, the VA Health Services Research and Development (HSR&D) Service convened a Working Group of VA researchers and Veterans to conduct a review of patient engagement models and develop recommendations for an approach to engage Veterans in health research that would incorporate their unique lived experiences and interests, and their perspectives on research priorities. The Working Group considered the specific context for Veteran engagement in research that includes other VA stakeholders from the operational and clinical leadership of the VA Health Administration (VHA). The resulting model identifies the range of potential stakeholders and three domains of relevant constructs-processes expected to facilitate Veteran engagement in research with other stakeholders, individual stakeholder and external factors, and outcomes. The expectation is that Veteran engagement will benefit research to policy and practice translation, including increasing the transparency of research and producing knowledge that is readily accepted and implemented in healthcare.

Health Experiences Research as a Resource and Mechanism for Veteran Engagement in VA Healthcare Research and Care Delivery.

Engaging patients in the research process helps to ensure researchers ask meaningful questions and generate useful evidence to inform healthcare decisions. In 2015, the Veterans Health Administration (VA) Health Services Research & Development (HSR&D) service convened a Veteran engagement workgroup, comprised of researchers, clinicians, and Veterans, to identify ways to integrate Veteran engagement into HSR&D. A subgroup was designated to explore the utility of health experiences research (research focused on enhancing understanding of people's experiences with healthcare and illnesses) as a mechanism to complement and broaden traditional engagement mechanisms. The subgroup recommended the VA adopt the Database of Individual Patient Experiences (DIPEx) methodology for conducting and disseminating health experiences research (HER). In this paper, we describe (1) the key components of the DIPEx approach, (2) how these components complement and broaden current methods of Veteran engagement, (3) an update on VA activities using the DIPEx approach, and (4) a roadmap for future VA HER activities.

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

PURPOSE: There 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. METHODS: The 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. RESULTS: Projects 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. CONCLUSION: Each 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.

Genome sequencing as a first-line diagnostic test for hospitalized infants.

PURPOSE: SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeastern United States, which are historically underrepresented in genomic medicine research. METHODS: GS and analysis were performed for 367 infants to detect disease-causal variation concurrent with standard of care evaluation and testing. RESULTS: Definitive diagnostic (DD) or likely diagnostic (LD) genetic findings were identified in 30% of infants, and 14% of infants harbored an uncertain result. Only 43% of DD/LD findings were identified via concurrent clinical genetic testing, suggesting that GS testing is better for obtaining early genetic diagnosis. We also identified phenotypes that correlate with the likelihood of receiving a DD/LD finding, such as craniofacial, ophthalmologic, auditory, skin, and hair abnormalities. We did not observe any differences in diagnostic rates between racial/ethnic groups. CONCLUSION: We describe one of the largest-to-date GS cohorts of ill infants, enriched for African American and rural patients. Our results show the utility of GS because it provides early-in-life detection of clinically relevant genetic variations not detected by current clinical genetic testing, particularly for infants exhibiting certain phenotypic features.

Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development.

BACKGROUND AND OBJECTIVES: Successful clinical integration of genomic sequencing (GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms (disutilities) across multiple domains of life for both patients and their families, there is as yet no empirically informed conceptual model of these effects. Our objective was to develop an empirically informed conceptual model of perceived utility of GS that captures utilities and disutilities for patients and their families across diverse backgrounds. METHODS: We took a patient-centered approach, in which we began with a review of existing literature followed by collection of primary interview data. We conducted semi-structured interviews to explore types of utility in a clinically and sociopolitically diverse sample of 60 adults from seven Clinical Sequencing Evidence-Generating Research (CSER) consortium projects. Interviewees had either personally received, or were parents of a child who had received, GS results. Qualitative data were analyzed using thematic analysis. Findings from interviews were integrated with existing literature on clinical and personal utility to form the basis of an initial conceptual model that was refined based on expert review and feedback. RESULTS: Five key utility types that have been previously identified in qualitative literature held up as primary domains of utility and disutility in our diverse sample. Interview data were used to specify and organize subdomains of an initial conceptual model. After expert refinement, the five primary domains included in the final model are clinical, emotional, behavioral, cognitive, and social, and several subdomains are specified within each. CONCLUSION: We present an empirically informed conceptual model of perceived utility of GS. This model can be used to guide development of instruments for patient-centered outcome measurement that capture the range of relevant utilities and disutilities and inform clinical implementation of GS.

An Implementation Assessment of the Virtual Acute Care for Elders Program From the Perspective of Key Stakeholders.

OBJECTIVE: The aim of this study was to obtain feedback from key stakeholders and end users to identify program strengths and weaknesses to plan for wider dissemination and implementation of the Virtual Acute Care for Elders (Virtual ACE) program, a novel intervention that improves outcomes for older surgical patients. BACKGROUND: Virtual ACE was developed to deliver evidence-based geriatric care without requiring daily presence of a geriatrician. Previous work demonstrated that Virtual ACE increased mobility and decreased delirium rates for surgical patients. METHODS: We conducted semi-structured interviews with 30 key stakeholders (physicians, nurses, hospital leadership, nurse managers, information technology staff, and physical/occupational therapists) involved in the implementation and use of the program. RESULTS: Our stakeholders indicated that Virtual ACE was extremely empowering for bedside nurses. The program helped nurses identify older patients who were at risk for a difficult postoperative recovery. Virtual ACE also gave them skills to manage complex older patients and more effectively communicate their needs to surgeons and other providers. Nurse managers felt that Virtual ACE helped them allocate limited resources and plan their unit staffing assignments to better manage the needs of older patients. The main criticism was that the Virtual ACE Tracker that displayed patient status was difficult to interpret and could be improved by a better design interface. Stakeholders also felt that program training needed to be improved to accommodate staff turnover. CONCLUSIONS: Although respondents identified areas for improvement, our stakeholders felt that Virtual ACE empowered them and provided effective tools to improve outcomes for older surgical patients.

Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium.

INTRODUCTION: Ensuring equitable access to health care is a widely agreed-upon goal in medicine, yet access to care is a multidimensional concept that is difficult to measure. Although frameworks exist to evaluate access to care generally, the concept of "access to genomic medicine" is largely unexplored and a clear framework for studying and addressing major dimensions is lacking. METHODS: Comprised of seven clinical genomic research projects, the Clinical Sequencing Evidence-Generating Research consortium (CSER) presented opportunities to examine access to genomic medicine across diverse contexts. CSER emphasized engaging historically underrepresented and/or underserved populations. We used descriptive analysis of CSER participant survey data and qualitative case studies to explore anticipated and encountered access barriers and interventions to address them. RESULTS: CSER's enrolled population was largely lower income and racially and ethnically diverse, with many Spanish-preferring individuals. In surveys, less than a fifth (18.7%) of participants reported experiencing barriers to care. However, CSER project case studies revealed a more nuanced picture that highlighted the blurred boundary between access to genomic research and clinical care. Drawing on insights from CSER, we build on an existing framework to characterize the concept and dimensions of access to genomic medicine along with associated measures and improvement strategies. CONCLUSIONS: Our findings support adopting a broad conceptualization of access to care encompassing multiple dimensions, using mixed methods to study access issues, and investing in innovative improvement strategies. This conceptualization may inform clinical translation of other cutting-edge technologies and contribute to the promotion of equitable, effective, and efficient access to genomic medicine.

Risk of Suicidal Self-directed Violence Among US Veteran Survivors of Head and Neck Cancer.

Importance: Head and neck cancer (HNC) survivors are about twice as likely to die by suicide compared with other cancer survivors. Objective: To examine the associations between precancer mental health and pain and postcancer receipt of mental health, substance use disorder (SUD), or palliative care services with risk of suicidal self-directed violence (SSDV). Design, Setting, and Participants: This retrospective cohort study used the Veterans Health Administration data of 7803 veterans with a diagnosis of HNC (stage I-IVB) who received cancer treatment between January 1, 2012, and January 1, 2018. Data were analyzed between May 2020 and July 2021. Exposures: Presence of precancer chronic pain and SUD diagnoses, and postcancer SUD, mental health, or palliative care treatment. Exposures were defined using International Classification of Diseases, Ninth Revision and International Statistical Classification of Diseases and Related Health Problems, Tenth Revision codes in Veterans Health Administration administrative data. Main Outcomes and Measures: Documented SSDV event, including suicide attempt or death by suicide, after HNC diagnosis. Results: Among the cohort of 7803 veterans (7685 [98.4%] male; mean [SD] age, 65 [10.7] years), 72 (0.9%) had at least 1 documented SSDV event following their cancer diagnosis, and 51 (0.7%) died by suicide. Four adjusted modified Poisson regression analyses identified that precancer chronic pain (incidence rate ratio [IRR], 2.58; 95% CI 1.54-4.32) or mood disorder diagnoses (IRR, 1.95; 95% CI, 1.17-3.24) were associated with higher risk of postcancer SSDV. Those who had at least 1 documented mental health (IRR, 2.73; 95% CI, 1.24-6.03) or SUD (IRR, 3.92; 95% CI, 2.46-6.24) treatment encounter in the 90 days following HNC diagnosis were at higher risk for SSDV. A palliative care encounter within 90 days of postcancer diagnosis was associated with decreased risk of SSVD (IRR, 0.49; 95% CI, 0.31-0.78). Conclusions and Relevance: In this cohort study, a high proportion of HNC survivors with an SSVD event died from their injuries. Identification of risk factors for SSDV among HNC survivors may help direct additional resources to those who are at high risk. Referral to palliative care appears to be an important component of supportive oncologic care to reduce the risk of SSDV.

Conceptualization of utility in translational clinical genomics research.

Prior to integration into clinical care, a novel medical innovation is typically assessed in terms of its balance of benefits and risks, often referred to as utility. Members of multidisciplinary research teams may conceptualize and assess utility in different ways, which has implications within the translational genomics community and for the evidence base upon which clinical guidelines groups and healthcare payers make decisions. Ambiguity in the conceptualization of utility in translational genomics research can lead to communication challenges within research teams and to study designs that do not meet stakeholder needs. We seek to address the ambiguity challenge by describing the conceptual understanding of utility and use of the term by scholars in the fields of philosophy, medicine, and the social sciences of decision psychology and health economics. We illustrate applications of each field's orientation to translational genomics research by using examples from the Clinical Sequencing Evidence-Generating Research (CSER) consortium, and we provide recommendations for increasing clarity and cohesion in future research. Given that different understandings of utility will align to a greater or lesser degree with important stakeholders' views, more precise use of the term can help researchers to better integrate multidisciplinary investigations and communicate with stakeholders.

Head to head randomized trial of two decision aids for prostate cancer.

BACKGROUND: While many studies have tested the impact of a decision aid (DA) compared to not receiving any DA, far fewer have tested how different types of DAs affect key outcomes such as treatment choice, patient-provider communication, or decision process/satisfaction. This study tested the impact of a complex medical oriented DA compared to a more simplistic decision aid designed to encourage shared decision making in men with clinically localized prostate cancer. METHODS: 1028 men at 4 VA hospitals were recruited after a scheduled prostate biopsy. Participants completed baseline measures and were randomized to receive either a simple or complex DA. Participants were men with clinically localized cancer (N = 285) by biopsy and who completed a baseline survey. Survey measures: baseline (biopsy); immediately prior to seeing the physician for biopsy results (pre- encounter); one week following the physician visit (post-encounter). Outcome measures included treatment preference and treatment received, knowledge, preference for shared decision making, decision making process, and patients' use and satisfaction with the DA. RESULTS: Participants who received the simple DA had greater interest in shared decision making after reading the DA (p = 0.03), found the DA more helpful (p's < 0.01) and were more likely to be considering watchful waiting (p = 0.03) compared to those receiving the complex DA at Time 2. While these differences were present before patients saw their urologists, there was no difference between groups in the treatment patients received. CONCLUSIONS: The simple DA led to increased desire for shared decision making and for less aggressive treatment. However, these differences disappeared following the physician visit, which appeared to change patients' treatment preferences. Trial registration This trial was pre-registered prior to recruitment of participants.