Faculty Bibliography

In numerous applications, from working with animal models to mapping the genetic basis of human disease susceptibility, knowing whether a single disrupting mutation in a gene is likely to be deleterious is useful. With this goal in mind, a number of measures have been developed to identify genes in which protein-truncating variants (PTVs), or other types of mutations, are absent or kept at very low frequency in large population samples-genes that appear 'intolerant' to mutation. One measure in particular, the probability of being loss-of-function intolerant (pLI), has been widely adopted. This measure was designed to classify genes into three categories, null, recessive and haploinsufficient, on the basis of the contrast between observed and expected numbers of PTVs. Such population-genetic approaches can be useful in many applications. As we clarify, however, they reflect the strength of selection acting on heterozygotes and not dominance or haploinsufficiency.

Children reared in impoverished environments are at risk for enduring psychological and physical health problems. Mechanisms by which poverty affects development, however, remain unclear. To explore one potential mechanism of poverty's impact on social-emotional and cognitive development, an experimental examination of a rodent model of scarcity-adversity was conducted and compared to results from a longitudinal study of human infants and families followed from birth (N = 1,292) who faced high levels of poverty-related scarcity-adversity. Cross-species results supported the hypothesis that altered caregiving is one pathway by which poverty adversely impacts development. Rodent mothers assigned to the scarcity-adversity condition exhibited decreased sensitive parenting and increased negative parenting relative to mothers assigned to the control condition. Furthermore, scarcity-adversity reared pups exhibited decreased developmental competence as indicated by disrupted nipple attachment, distress vocalization when in physical contact with an anesthetized mother, and reduced preference for maternal odor with corresponding changes in brain activation. Human results indicated that scarcity-adversity was inversely correlated with sensitive parenting and positively correlated with negative parenting, and that parenting fully mediated the association of poverty-related risk with infant indicators of developmental competence. Findings are discussed from the perspective of the usefulness of bidirectional-translational research to inform interventions for at-risk families.

Background: The Hitech Act of 2009 led to Federal funding on EHR incentives such as Advancing Care Information within MIPs and Meaningful Use. EPIC currently has a MyChart application which allows a patient to interface with their medical records and provider. The Family Health Centers (FHC) at NYU Langone is a network of 8 Federally Qualified Health Centers (FQHC) located in Brooklyn New York. The primary service area has a large immigrant population with 47% of the population reported as being foreign born, and a diverse payor mix with 12% of patients being self-pay/uninsured.
Method(s): Retrospective analysis was performed regarding 78,168 unique patients seen within the Family Health Center Network from January 2018 to December 3rd, 2018. Patient were identified by payor class and by utilization of MyChart. Given the diversity of healthcare plans afforded within New York State, payor classes were grouped into 7 broad categories: Medicaid/Managed Medicaid, commercial, Medicare/Managed Medicare, self-pay, no insurance, Child Health Plus and Med-icaid Expansion (Affordable Care Act). Patient MyChart data abstraction within the EPIC Clarity database included whether the patient was enrolled and when the last date of activity occurred. Enrollment with activity versus enrollment without activity within the last calendar year was used to gauge whether the patient would be considered an active subject in this retrospective review.
Result(s): Regarding percentage of patient enrolled in MyChart, the patient population most likely to enroll was found to be those who have commercial health plans at 41%, with Medicaid expansion plans at 37%, followed by Medicaid tied with self-pay coverage (23%) and Medicare at 18%. Utilization tells a different story with the highest utilizers found in the Medicare enrollees at 79%, followed by Medicaid expansion at 78%, then commercial plans at 77%. The next tier of active users was found to be no coverage (67%), self-pay (66%) and Medicaid (61%). Retrospective review with enrollment data was somewhat expected; high enrollment in patients with commercial plans and lower enrollment amongst Medicare beneficiaries. What was surprising was the utilization/activity data revealed an entirely different picture. Activity usage reflected two tiers. Patients who have Medicare utilize the application as much as patients who have commercial plans and Medicaid expansion. Despite connotations on patients who are self-pay or who have no coverage at all, these patients still use the application, with greater than 50% of those enrolled, actively using MyChartwithin the last calendar year.
Conclusion(s): As medical care becomes more immersed in web-based technologies, attention and opportunities exist for patients who traditionally were viewed as not having access nor inclination to use such technologies. Continued efforts should be maintained regarding enrollment regardless of the payor class or age

Statement of Problem Or Question (One Sentence): Can a home visit complex care management program successfully identify and engage high risk patients in a FQHC? Objectives of Program/Intervention (No More Than Three Objectives): 1. Identify patients at an FQHC who are at risk for preventable hospitalization 2. Enroll and engage patients in a home visit based complex care management program. Description of Program/Intervention, Including Organizational Context (E.G. Inpatient Vs. Outpatient, Practice or Community Characteristics): The Primary Care Plus program (PCP+) is a home visit based program established to address the needs of patients at risk for preventable hospitalizations within the Family Health Centers at NYU Langone. The program staff-a physician, a nurse practitioner, a social worker and 2 community health workers-coordinate as a team to identify and address the biopsychosocial needs of high risk patients. A key intervention is the home visit lead by a physician or nurse practitioner to perform the medical assessment, medication reconciliation, and identification of both medical and social impediments to optimal health. The program is not intended to replace the patient's primary care provider, but to function as an addition to the patient's care team, identifying and mitigating risk drivers, and handing off to the primary team and care management resources once the risk drivers have been addressed. Patients are referred into the program by either their primary care doctors or care management. The program is restricted to those patients who have a continuity relationship in the Federally Qualified Health Center, and who are identified as being at risk for a preventable hospitalization. Latitude is given to the referral source in how patients are identified; guidance is given to focus on patients with a history of preventable hospitalizations (as defined by PQI) or patients with advanced disease and potential palliative care needs. Measures of Success (Discuss Qualitative And/Or Quantitative Metrics Which Will Be Used To Evaluate Program/Intervention): The primary measure of success is patient engagement. Patient engagement is defined by both consent to the program and successful home visit by the medical provider. Other outcome metrics are patient characteristics, number of emergency department visits and number of inpatient hospitalizations in the 12 months before program enrollment. Findings To Date (It Is Not Sufficient To State Findings Will Be Discussed): Since program inception in August 2018 through December 31, 2018, 75 patients have been identified by care management or primary care providers as potential candidates for the program and who met criteria as defined above. Of the 75 patients, 6 (8%) declined the program, and another 10 (13.3%) could not be found. The remaining 59 patients were seen at home and assessed. Total engagement was 78.7%. Patients identified represent a cohort of patients with an average of 2.0 inpatient admissions and 3.2 emergency department visits in the preceding 12 months prior to enrollment. Key Lessons For Dissemination (What Can Others Take Away For Implementation To Their Practice Or Community?): Identification of a high-risk patient population in a federally qualified health center and referral into a home visit based care management program is associated with high acceptance and engagement. Future study will determine if patients enrolled in the program have an impact on risk drivers and preventable hospitalizations

Statement of Problem Or Question (One Sentence): As healthcare delivery shifts to the value based paradigm how do you educate primary care providers on medication adherence metrics while performing a meaningful educational experience? Objectives of Program/Intervention (No More Than Three Objectives): 1.Educate Internal Medicine residents in a Primary Care residency program on NCQA HEDIS measures regarding medication adherence metrics 2.Work with a clinically integrated network (CIN) pharmacy team on identifying patients who have not refilled their medications, and how to engage patient medication adherence Description of Program/Intervention, Including Organizational Context (E.G. Inpatient Vs. Outpatient, Practice or Community Characteristics): The Family Health Centers (FHC) at NYU Langone is a network of 8 Federally Qualified Health Centers in Brooklyn New York. Primary care residents, working with the NYU CIN pharmacy team, collaborated on telephonic outreach to engage patients identified by payor contracts as nonadherent on medication refills. After initial training, which included education on how the Proportion of Days Covered (PDC) rate is a quantitative metric used to measure quality of care and scripted exercise on telephonic patient engagement, residents were tasked with identifiying challenges on medication refill as well as intervening when appropriate. At the end of the intervention period a resident focus group was conducted to determine the educational value in this quality initiative. Measures of Success (Discuss Qualitative And/Or Quantitative Metrics Which Will Be Used To Evaluate Program/Intervention): Primary endpoint was increased PDC rates based on payor data for patients who are diagnosed with either having diabetes (non gestational), hypertension or dyslipidemia. A post intervention focus group and semantical content analysis was performed regarding educational value from this exercise. Findings To Date (It Is Not Sufficient To State Findings Will Be Discussed): In a 6-month period 523 unique patients were engaged with 899 outreaches completed. 1061 barriers were identified. The top 3 patient identified barriers were: patients unaware they had not filled the prescription (31.05%), lack of clearly identified reason for non adherence (20.23%), and patients did not feel committed to taking the prescribed medication (14.97%). When comparing PDC rates from the previous year, this intervention saw a 7% increase in aggregate PDC rates for those who were prescribed medications and having diabetes. Regarding post intervention focus groups with residents, semantic content analysis revealed the highest affinity for positive descriptors in the domains of educational value, need to expand education to resident providers, and continued interest in future quality projects with the pharmacy team. Key Lessons For Dissemination (What Can Others Take Away For Implementation To Their Practice Or Community?): Key take home lessons in this intervention is that telephonic pharmacy adherence outreach has a positive impact on maintaining PDC rate compliance, particularly in patients with managed Medicare plans. On educational value, further development is needed in resident curriculum regarding medication adherence and reconciliation in the ambulatory setting. Lastly residents working with pharmacy teams find value in addressing medication adherence barriers and may impact best practices in provider prescribing habits when engaging patients

OBJECTIVE:Breast cancer (BC) survivors with a genetic mutation are at higher risk for subsequent cancer; knowing genetic risk status could help survivors make decisions about follow-up screening. Uptake of genetic counseling and testing (GC/GT) to determine BRCA status is low among high risk BC survivors. This study assessed feasibility, acceptability, and preliminary efficacy of a newly developed psychoeducational intervention (PEI) for GC/GT. METHODS:High risk BC survivors (N = 119) completed a baseline questionnaire and were randomized to the intervention (PEI video/booklet) or control (factsheet) group. Follow-up questionnaires were completed 2 weeks after baseline (T2), and 4 months after T2 (T3). We analyzed recruitment, retention (feasibility), whether the participant viewed study materials (acceptability), intent to get GC/GT (efficacy), and psychosocial outcomes (eg, perceived risk, Impact of Events Scale [IES]). t tests or chi-square tests identified differences between intervention groups at baseline. Mixed models examined main effects of group, time, and group-by-time interactions. RESULTS:Groups were similar on demographic characteristics (P ≥ .05). Of participants who completed the baseline questionnaire, 91% followed through to study completion and 92% viewed study materials. A higher percentage of participants in the intervention group moved toward GC/GT (28% vs 8%; P = .027). Mixed models demonstrated significant group-by-time interactions for perceived risk (P = .029), IES (P = .027), and IES avoidance subscale (P = .012). CONCLUSIONS:The PEI was feasible, acceptable, and efficacious. Women in the intervention group reported greater intentions to pursue GC, greater perceived risk, and decreased avoidance. Future studies should seek to first identify system-level barriers and facilitators before aiming to address individual-level barriers.

INTRODUCTION/BACKGROUND:Disparities in survival for bladder and kidney cancer among the genders and patients with varying insurance coverage have been identified. Microhematuria (MH), a potential early clinical sign of genitourinary malignancy, should prompt a standardized diagnostic evaluation. However, many patients do not complete a full evaluation and may be at risk of a missed or delayed identification of genitourinary pathology. METHODS:Patients 35 and older with a new diagnosis of MH between 2007 and 2015 were retrospectively identified at a large health system. Our primary outcome of interest was completion of cystoscopy and imaging. Regression modeling was used to assess associations between gender and insurance status with completion of a MH evaluation, adjusted for clinical factors, urinalysis data, and patient demographics. RESULTS:Of 15,161 patients with MH, only 1,273 patients (8.4%) completed upper tract imaging and a cystoscopy; 899 (5.9%) within 1 year. Median time to imaging was 75 days and 68.5 days for cystoscopy. Of those with an incomplete evaluation, 23.7% underwent cystoscopy and 76.3% underwent imaging. Male gender, private insurance, and increased MH severity on UA were associated with a complete evaluation. More patients who completed an evaluation were diagnosed with bladder (4.8% vs. 0.3%) and kidney cancer (3.1% vs. 0.4%) when compared to those who did not. CONCLUSION/CONCLUSIONS:Few patients complete a timely evaluation of MH. Women and underinsured patients are disproportionately less likely to complete a work-up for microhematuria and this may have downstream implications for diagnosis.

BACKGROUND/AIM/OBJECTIVE:National guidelines offer little guidance on the use of PSA progression (PSA increase as defined below) as a clinical endpoint in metastatic castration-resistant prostate cancer (mCRPC). The aim of the study was to examine treatment patterns/outcomes with abiraterone (abi)/enzalutamide (enza) throughout PSA progression and near the end of life (EOL). PATIENTS AND METHODS/METHODS:Cases of mCRPC treated with abi or enza from the New York Veterans Affairs (VA) from 6/2011-8/2017 were reviewed. Regression analyses were conducted to identify factors associated with continuation of abi/enza treatment up to the EOL, and survival. RESULTS:Of 184 patients, 72 received abi alone, 28 received enza alone, and 84 received both. Treatment was changed for PSA progression alone in 39.1% (abi) and 25.7% (enza) of patients. A total of 37 patients (20%) received abi/enza within 1 month before death, 30% of whom were receiving hospice services. Older patients and black patients were less likely to receive abi/enza up to the EOL. CONCLUSION/CONCLUSIONS:Abi/enza are frequently discontinued for PSA progression alone and continued at EOL. The clinical benefit of these practices warrants additional study.

Background: Social risk factors are increasingly understood as important drivers of care utilization, including emergency department (ED) visits. As a result, new social risk screening initiatives are being implemented to direct interventions and inform care. There is limited information on patient acceptability of social risk screening in the ED. The Center for Medicare and Medicaid Innovation (CMMI) proposed a social risk screening tool for their Accountable Health Communities Model that focuses on five actionable domains. In this study, we used the CMMI tool to explore the acceptability of social risk screening to adult patients and caregivers of pediatric patients in EDs.
Method(s): A tablet-based, self-administered survey was administered to a convenience sample of adult ED patients and caregivers of pediatric patients at two adult and two pediatric academic EDs. The survey included the CMMI tool and questions on acceptability of screening. The primary acceptability measure was appropriateness of screening in the ED; a secondary outcome was comfort with including social risk data in electronic health records (EHRs). Cross-sectional data were analyzed using chi-square analyses for bivariate comparison.
Result(s): The survey was completed by 364 participants. 41% of participants screened positive for housing instability, 41% for food insecurity, 19% for transportation insecurity, 13% utilities insecurity, and 1% for interpersonal violence. 23% of respondents endorsed no social risk factors. 73% of patients felt that it was "somewhat" or "very appropriate" to conduct social risk screening in the ED. No statistically significant difference was observed in acceptability of screening between participants who endorsed one or more social risks (74% reported "somewhat" or "very appropriate" to screen) versus none (75%). 70% reported feeling "somewhat" or "completely comfortable" with screening information being included in the EHR.
Conclusion(s): In EDs caring for patients with significant social adversity, there was high patient and caregiver acceptability of social risk screening, and a high level of comfort with screening information being included in EHRs. Further investigation is needed to understand perspectives of patients who did not find social risk screening acceptable