Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.

We use the implementation science framework RE-AIM (reach, effectiveness, adoption, implementation, and maintenance) to describe outcomes of In Our DNA SC, a population-wide genomic screening (PWGS) program. In Our DNA SC involves participation through clinical appointments, community events, or at home collection. Participants provide a saliva sample that is sequenced by Helix, and those with a pathogenic variant or likely pathogenic variant for CDC Tier 1 conditions are offered free genetic counseling. We assessed key outcomes among the first cohort of individuals recruited. Over 14 months, 20,478 participants enrolled, and 14,053 samples were collected. The majority selected at-home sample collection followed by clinical sample collection and collection at community events. Participants were predominately female, White (self-identified), non-Hispanic, and between the ages of 40-49. Participants enrolled through community events were the most racially diverse and the youngest. Half of those enrolled completed the program. We identified 137 individuals with pathogenic or likely pathogenic variants for CDC Tier 1 conditions. The majority (77.4%) agreed to genetic counseling, and of those that agreed, 80.2% completed counseling. Twelve clinics participated, and we conducted 108 collection events. Participants enrolled at home were most likely to return their sample for sequencing. Through this evaluation, we identified facilitators and barriers to implementation of our state-wide PWGS program. Standardized reporting using implementation science frameworks can help generalize strategies and improve the impact of PWGS.

Lessons Learned from the Pilot Phase of a Population-Wide Genomic Screening Program: Building the Base to Reach a Diverse Cohort of 100,000 Participants.

Background and Objectives: Genomic information is increasingly relevant for disease prevention and risk management at the individual and population levels. Screening healthy adults for Tier 1 conditions of hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia using a population-based approach can help identify the 1−2% of the US population at increased risk of developing diseases associated with these conditions and tailor prevention strategies. Our objective is to report findings from an implementation science study that evaluates multi-level facilitators and barriers to implementation of the In Our DNA SC population-wide genomic screening initiative. Methods: We established an IMPACTeam (IMPlementAtion sCience for In Our DNA SC Team) to evaluate the pilot phase using principles of implementation science. We used a parallel convergent mixed methods approach to assess the Reach, Implementation, and Effectiveness outcomes from the RE-AIM implementation science framework during the pilot phase of In Our DNA SC. Quantitative assessment included the examination of frequencies and response rates across demographic categories using chi-square tests. Qualitative data were audio-recorded and transcribed, with codes developed by the study team based on the semi-structured interview guide. Results: The pilot phase (8 November 2021, to 7 March 2022) included recruitment from ten clinics throughout South Carolina. Reach indicators included enrollment rate and representativeness. A total of 23,269 potential participants were contacted via Epic's MyChart patient portal with 1976 (8.49%) enrolled. Black individuals were the least likely to view the program invitation (28.9%) and take study-related action. As a result, there were significantly higher enrollment rates among White (10.5%) participants than Asian (8.71%) and Black (3.46%) individuals (p < 0.0001). Common concerns limiting reach and participation included privacy and security of results and the impact participation would have on health or life insurance. Facilitators included family or personal history of a Tier 1 condition, prior involvement in genetic testing, self-interest, and altruism. Assessment of implementation (i.e., adherence to protocols/fidelity to protocols) included sample collection rate (n = 1104, 55.9%) and proportion of samples needing recollection (n = 19, 1.7%). There were no significant differences in sample collection based on demographic characteristics. Implementation facilitators included efficient collection processes and enthusiastic clinical staff. Finally, we assessed the effectiveness of the program, finding low dropout rates (n = 7, 0.35%), the identification of eight individuals with Tier 1 conditions (0.72% positive), and high rates of follow-up genetic counseling (87.5% completion). Conclusion: Overall, Asian and Black individuals were less engaged, with few taking any study-related actions. Strategies to identify barriers and promoters for the engagement of diverse populations are needed to support participation. Once enrolled, individuals had high rates of completing the study and follow-up engagement with genetic counselors. Findings from the pilot phase of In Our DNA SC offer opportunities for improvement as we expand the program and can provide guidance to organizations seeking to begin efforts to integrate population-wide genomic screening.

Adherence to evidence-based treatment guidelines for bipolar depression in an inpatient setting.

OBJECTIVE: The purpose of this study is to determine whether patients with a discharge diagnosis of bipolar depression were prescribed medications that are in accordance with evidence-based treatment guidelines and are FDA-approved for bipolar depression. METHODS: A retrospective study was conducted to assess prescribing of evidence-based therapies for patients discharged between November 2007 and August 2010 with a diagnosis code of BPD at the time of discharge. The primary objective of the study was to determine if evidence-based medications were prescribed at the time of discharge. Secondary objectives included analysis of other medications used, concomitant disease states and drug therapy, rate of readmission, and rate of therapeutic drug monitoring. RESULTS: Of 294 patients, 170 (58%) were prescribed evidence-based medications upon discharge. The most commonly used medication was quetiapine. The most commonly prescribed off-label medications were atypical antipsychotics. For patients on antipsychotics, rates of appropriate monitoring were variable. Seventy percent of patients receiving lithium had a therapeutic concentration prior to discharge. Differences in rates of readmission between groups were not significant. CONCLUSIONS: Rates of prescribing evidence-based medications at discharge for patients with BPD were low. Additionally, evidence-based monitoring for specific medications was variable. Future studies reviewing treatment course and illness severity may provide more information about appropriate medication use in patients with BPD.

Evaluation of urinalyses ordered for diagnosis of urinary tract infections at an inpatient psychiatric hospital.

OBJECTIVE: A retrospective study was conducted to assess the diagnosis and treatment of urinary tract infections (UTIs) using urinalyses (UA)s at a psychiatric hospital. METHOD: Patients admitted between July 2010 and June 2011 receiving at least one UA during inpatient psychiatric hospitalization were included. Pregnant patients and those with a UA receiving antibiotic treatment in the emergency department were excluded. The primary objective of the study was to characterize and assess the appropriateness of UAs ordered for the diagnosis of UTIs. Secondary objectives included analyzing frequency of cultures obtained, appropriateness of empiric antibiotics, and de-escalation of therapy if warranted. RESULTS: Thirty-nine percent (n = 891/2292) of patients admitted received a UA at least once during their hospitalization. Of 203 patients further evaluated, 78% were asymptomatic, 11% were older than 65 years of age with altered mental status (AMS) or dementia, and 11% had typical UTI symptoms. Thirty-one patients were given antibiotics for a UTI during their stay, with a majority of those being asymptomatic (n = 19/31). CONCLUSIONS: A significant proportion of UAs ordered at a psychiatric hospital were inappropriate. When patients were treated, empiric antibiotic selection and length of treatment were appropriate in most instances.

Bar Code Medication Administration Technology: Characterization of High-Alert Medication Triggers and Clinician Workarounds.

BACKGROUND: Bar code medication administration (BCMA) technology is gaining acceptance for its ability to prevent medication administration errors. However, studies suggest that improper use of BCMA technology can yield unsatisfactory error prevention and introduction of new potential medication errors. OBJECTIVE: To evaluate the incidence of high-alert medication BCMA triggers and alert types and discuss the type of nursing and pharmacy workarounds occurring with the use of BCMA technology and the electronic medication administration record (eMAR). METHODS: Medication scanning and override reports from January 1, 2008, through November 30, 2008, for all adult medical/surgical units were retrospectively evaluated for high-alert medication system triggers, alert types, and override reason documentation. An observational study of nursing workarounds on an adult medicine step-down unit was performed and an analysis of potential pharmacy workarounds affecting BCMA and the eMAR was also conducted. RESULTS: Seventeen percent of scanned medications triggered an error alert of which 55% were for high-alert medications. Insulin aspart, NPH insulin, hydromorphone, potassium chloride, and morphine were the top 5 high-alert medications that generated alert messages. Clinician override reasons for alerts were documented in only 23% of administrations. Observational studies assessing for nursing workarounds revealed a median of 3 clinician workarounds per administration. Specific nursing workarounds included a failure to scan medications/patient armband and scanning the bar code once the dosage has been removed from the unit-dose packaging. Analysis of pharmacy order entry process workarounds revealed the potential for missed doses, duplicate doses, and doses being scheduled at the wrong time. CONCLUSIONS: BCMA has the potential to prevent high-alert medication errors by alerting clinicians through alert messages. Nursing and pharmacy workarounds can limit the recognition of optimal safety outcomes and therefore workflow processes must be continually analyzed and restructured to yield the intended full benefits of BCMA technology.