Exploring healthcare provider retention in a rural and frontier community in Northern Idaho.

BACKGROUND: A shortage of healthcare providers, particularly in primary care and mental health, exists in the predominately rural state of Idaho. There are also barriers to retaining healthcare providers to work in rural and remote communities. Limited research using U.S. samples has explored factors that may affect the retention of healthcare providers in rural areas. Additionally, due to differences between communities, it is important to conduct community-level investigations to better understand how these factors may affect retention in rural areas. Therefore, the purpose of this study was to explore factors affecting healthcare provider retention in a rural community in Northern Idaho. METHODS: A modified version of the Nursing Community Apgar Questionnaire (NCAQ) was completed by 30 healthcare providers in a rural and frontier community in Northern Idaho to assess factors influencing healthcare provider retention. Factors were classified into classes including geographic, economic, scope of practice, medical support, and facility and community support classes. Retention factors were assessed on their perceived importance to retention as well as whether they were perceived as an advantage or challenge to retention based on Likert scales. A "Community Apgar" score was also created by combining the importance and advantage/challenge factors. RESULTS: Overall, items in the medical support group had the highest importance of any other class and included factors such as nursing workforce. Additionally, the facility and community support class, which included factors such as televideo support, was rated the highest advantage class and had the highest Apgar score, indicating it contained the factor that healthcare providers identified as the most important advantage (i.e., medical reference resources). CONCLUSION: Our study identified multiple factors that healthcare providers deemed as important advantages or disadvantages to retaining healthcare providers in rural areas. Overall, facility and community support factors were found to have the highest advantage in the retention of rural providers. Rural healthcare organizations looking to increase healthcare provider retention should target retention efforts towards these factors. Additional research should also be conducted on other rural samples across the U.S. to make comparisons of findings.

Evaluating Psychometric Properties of the International Knee Documentation Committee Subjective Knee Form in a Heterogeneous Sample of Post-Operative Patients.

Background: The International Knee Document Committee Subjective Knee Form (IKDC-SKF) is a patient-reported outcome measure used in orthopedics and sports medicine. Further psychometric assessment is necessary to confirm measurement properties in a large, heterogenous sample. Purpose: The purpose of the study was to assess the psychometric properties of the IKDC-SKF in a large, heterogenous sample. Study Design: Cross-Sectional Study. Methods: An exploratory factor analysis (EFA) was conducted to identify a sound latent structure and to assess internal consistency in a large sample of patients who underwent knee arthroscopy. A confirmatory factor analysis (CFA) was conducted to confirm structural validity. Multi-group invariance was conducted to assess factorial stability across sex and age groups, while longitudinal invariance procedures were performed to assess stability over time. Results: A 3-factor, 9-item IKDC-SKF short form was identified with EFA procedures. The model was confirmed with CFA (CFI = 0.983; TLI = 0.975; IFI = 0.983; RMSEA = 0.057), while a sound 2-factor, 6-item model was also identified (CFI = 1.0; TLI = 0.999; IFI = 1.0; RMSEA = 0.11). The 9-item IKDC-SKF short form was invariant across groups but not time; removal of a single item (i.e., 8-item IKDC-SKF short form) resulted in longitudinal invariance. The 6-item IKDC-SKF short form was invariant across groups and time. Conclusion: The 6-item, 8-item, and 9-item short form versions of the IKDC-SKF exceed contemporary fit recommendations and present as plausible alternatives to the IKDC-SKF with improved measurement properties, reduced scale response burden, and evidence of multi-group and longitudinal invariance. Further, the 6- and 8-item IKDC-SKF short forms may be used to assess group differences or change across time.# Level of evidence hereLevel 3©The Author(s).

Effect of instrument type and one-handed versus two-handed grips on force application during simulated instrument-assisted soft tissue mobilisation.

Objective: The purpose of this study was to examine whether the forces used by trained clinicians during a simulated instrument-assisted soft tissue mobilisation (IASTM) treatment varied across five different instruments during one-handed and two-handed IASTM grips. Methods: Nine athletic trainers who previously completed IASTM training and used the technique in professional practice were included in the study. A skin simulant was attached to a force plate and used to evaluate force production during a simulated IASTM treatment scenario. Peak (Fpeak) and mean (Fmean) forces were recorded for both one-handed and two-handed grips for each participant across the five instruments. Data were analysed using separate 2 (grip type) × 5 (IASTM instrument) repeated measures analysis of variance for both Fpeak and Fmean. Results: Data for Fpeak demonstrated a significant main effect for grip type (F(1, 8)=46.39, p<0.001, η p 2 =0.34), instrument (F(4, 32)=4.61, p=0.005, η p 2 =0.06) and interaction (F(2, 16)=10.23, p=0.001, η p 2 =0.07). For Fmean, there was also a statistically significant main effect for grip type (F(1, 8)=60.47, p<0.001, η p 2 =0.32), instrument (F(4, 32)=4.03, p=0.009, η p 2 =0.06) and interaction (F(2, 19)=7.92, p=0.002, η p 2 =0.06). Conclusions: Clinicians produced greater IASTM forces when applying a two-handed grip than a one-handed grip. Instrument weight may matter less than instrument shape, size and bevelling for influencing force production as instrument length appears to influence force production when using one-handed or two-handed grips. Although the effects of IASTM force variation on patient outcomes remains unknown, these findings may be considered by clinicians when making instrument and grip choices.

Psychometric Properties of a Modified Athlete Burnout Questionnaire in the Collegiate Athletics Setting.

CONTEXT: Mental health is an important component of holistic care in athletic settings. Burnout is one of many factors associated with poor mental health, and clinicians should assess for these symptoms. The Athlete Burnout Questionnaire (ABQ) has been proposed as a measure of burnout in athletes; however, design concerns are prevalent within the scale, and psychometric analyses have resulted in inconsistent measurement properties, limiting the usefulness of the scale for accurate assessment of burnout in athletes. The objective of our study was to assess the factor structure of the Alternate Modified ABQ-15v2 using confirmatory factor analysis. If model fit was inadequate, a secondary purpose was to identify a psychometrically sound alternate ABQ model. DESIGN: Observational study. METHODS: Intercollegiate athletes and dancers pursuing a degree in dance (n = 614) were recruited from programs across the United States. Individuals had varied health statuses (eg, healthy, injured), scholarship support, and participated in a variety of intercollegiate sports. A confirmatory factor analysis was conducted on the modified 15-item ABQ (Alternate Modified ABQ-15v2). Exploratory factor analysis and covariance modeling of a proposed alternate 9-item scale (ABQ-9) was conducted and multigroup invariance analysis was assessed across athlete category, class standing, and student-athlete scholarship status to assess consistency of item interpretation across subgroups. RESULTS: The Modified ABQ did not meet recommended model fit criteria. The ABQ-9 met all recommended model fit indices but was not invariant across athlete category. CONCLUSIONS: The ABQ-9 may be a viable and efficient option for assessing burnout in the collegiate athletics setting. However, further research is needed to validate the ABQ-9 in a cross-validation study.

Evaluating a Project Extension for Community Health Outcomes Pediatric Behavioral Health Series in a Rural and Frontier State: An Exploratory Investigation.

Background: Idaho, a predominately rural state, has a high prevalence of mental illness with minimal access to care. Barriers in diagnosis and treatment of pediatric behavioral health disorders could be mitigated with an accessible and effective specialty training program. Methods: A 10-session Project Extension for Community Health Outcomes (ECHO) series was designed to expand provider knowledge about pediatric behavioral health conditions and improve perceived clinical practice skills. Pre- and postseries evaluation surveys and individual session evaluations were used to assess the program. Results: A total of 148 individuals attended at least 1 of the 10 sessions. Participants reported high satisfaction with individual sessions and indicated that attendance positively impacted their knowledge and competency. Participants also reported that the knowledge and skills gained from the series would benefit more than half of their patients or clients. Conclusion: The short ECHO series appears to be a viable and valuable option to provide Idaho providers with effective specialty training that is well attended and well received.

Rasch Calibration of the International Knee Documentation Committee Subjective Knee Form.

CONTEXT: Among numerous knee-related patient-reported outcome measures, the International Knee Documentation Committee Subjective Knee Form (IKDC-SKF) has been used across a wide variety of knee pathologies. However, traditional validation procedures (classical test theory) and existing studies (estimating item parameters) have limitations in establishing the measurement properties of the IKDC-SKF. Rasch analysis reveals a strong validation approach to improve IKDC-SKF clinical interpretation with larger samples. OBJECTIVE: To assess psychometric properties, including differential item functioning, of the IKDC-SKF as a patient-reported measure of knee function. DESIGN: Cross-sectional study. SETTING: Secondary data. Data were extracted from the cloud-based orthopedic and sports medicine global registry Surgical Outcome System (Arthrex). PATIENTS: A total of 1725 individuals who underwent an arthroscopic knee procedure and completed all items on the IKDC-SKF. MAIN OUTCOME MEASURE(S): Rasch analysis including model-data fit, rating scale's function, item-person map (distribution of item difficulty and person ability), and differential item functioning (sex and age groups) was used to evaluate the psychometric properties of the IKDC-SKF. RESULTS: Ten misfit items were found and removed. The 5-point Likert scale of the 9-item IKDC-SKF worked well. Item difficulty ranged from 0.58 to 0.81 logits, and person's knee function had ranged from -5.56 to 4.86 logits, with a wide distribution. The IKDC-SKF was found to function similarly for sex (male vs female) and age. CONCLUSIONS: Rasch analysis identified a unidimensional structure retaining 9 of the original IKDC-SKF items; however, a more comprehensive inventory is necessary to assess a wider range of knee function and improve measurement validity.

Multi-group invariance testing of the knee injury osteoarthritis outcome score for joint replacement scale.

Objective: The Knee Osteoarthritis Outcome Score for Joint Replacement (KOOS-JR) scale is commonly used to assess patient progress. Scale structural validity has not been completely assessed. The purpose of this study was to assess the internal consistency, structural validity, and multi-group invariance properties of the KOOS-JR in a large sample of patients receiving knee arthroplasty or non-operative care. Methods: A cross-sectional study using the Surgical Outcome System (SOS) database. Patients receiving care for degenerative knee conditions were included in the study. Internal consistency was assessed using Cronbach's alpha and McDonald's Omega. A confirmatory factor analysis was conducted to confirm scale structure of the KOOS-JR using a priori cut-off values (Comparative Fit Index [CFI], Tucker-Lewis Index [TLI], Incremental Fit Index [IFI] â€‹≥ â€‹0.95, Root Mean Square Error of Approximation [RMSEA] â€‹≤ â€‹0.06 preferred and ≤0.08 acceptable). Multigroup invariance testing was conducted across sex, age, and intervention groups. Results: Internal consistency was acceptable (alpha â€‹= â€‹0.83; omega â€‹= â€‹0.83). The unidimensional structure of the KOOS-JR exceeded most contemporary model fit recommendations (CFI â€‹= â€‹0.976, TLI â€‹= â€‹0.964, IFI â€‹= â€‹0.976, RMSEA â€‹= â€‹0.067). The KOOS-JR was invariant across groups, allowing for comparison of variances and means between sex, age, and intervention groups. Conclusion: The KOOS-JR met or exceeded most of the recommendations for model fit. The scale can be used to assess differences between males and females, middle and older aged adults, and between baseline measures of patients who received total knee arthroplasty or non-operative care.

Exploring Force Production Reliability across Different Levels of Clinical Experience during a Simulated One-handed Instrument-Assisted Soft Tissue Mobilization Treatment: A Pilot Study.

Background: Instrument-assisted soft tissue mobilization (IASTM) is a commonly utilized intervention for musculoskeletal pain and dysfunction. However, little is known regarding the reliability of forces applied by clinicians of different experience levels during an IASTM intervention. Purpose: The purpose of this pilot study was to assess intra-clinician reliability of IASTM force (i.e., mean normal force) during a simulated, one-handed stroke IASTM intervention across different levels of IASTM clinical experience. Design: Descriptive laboratory study. Methods: The researchers conducted a repeated measures trial in a laboratory setting with a convenience sample of ten participants who had previously completed professional IASTM training. Participants performed 15 one-handed sweeping strokes with an IASTM instrument on a skin simulant attached to a force plate for a standardized hypothetical treatment scenario. The participants performed the treatment on two separate days, 24-48 hours apart. The researchers examined the intra-rater reliability for average (mean) normal forces using Bland-Altman (BA) plots and Coefficient of Variation (CV) values. Results: The BA plot results indicated all participants (professional athletic training students = 4, athletic trainers = 6; males = 5, females = 5; age = 32.60 ± 8.71 y; IASTM experience = 3.78 ± 4.10 y), except participant D (1.9N, 190g), were consistently reliable within 1N (100g) or less of force for mean differences and within the maximum limits of agreement around 3.7N (370g). Most participants' CV scores ranged between 8 to 20% supporting reliable force application within each treatment session. Conclusion: The data indicated that IASTM trained clinicians could produce consistent forces within and across treatment sessions irrespective of clinical experience. Level of Evidence: 3.

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) Syndrome is a syndrome recently identified among three German patients. Clinical characteristics include eye disease, sensorineural hearing loss, distinct facial and phalangeal features, short stature, developmental delay, and cerebellar atrophy. In this case report, we discuss a fourth identified patient with genomic mutations in the EXOSC2 gene which codes for a cap protein in the RNA exosome. Whole exome sequencing identified two mutations of unknown clinical significance including: a heterozygous maternal variant, missense mutation NM_014285.7: c427G>A (p.Ala143Thr) in exon 6 and a heterozygous paternal variant, splice donor NM_014285.5: c.801+1G>A in intron 8. Our patient demonstrates a novel clinical presentation within the SHRF disease spectrum.

Pasteurella multocida as a Rare Cause of Neonatal Meningitis Complicated by Empyema.

A neonatal male injured by the family dog developed meningitis secondary to Pasteurella multocida . After initially defervescing with IV antibiotic treatment, he became febrile again, and imaging revealed a skull fracture and fluid collection. Following neurosurgical evacuation and an extended course of antibiotics, the patient was discharged home.

Clinician Reliability of One-Handed Instrument-Assisted Soft Tissue Mobilization Forces During a Simulated Treatment.

Clinicians utilize instrument-assisted soft tissue mobilization (IASTM) to identify and treat myofascial dysfunction or pathology. Currently, little is known regarding the ability of clinicians to provide similar IASTM forces across treatment sessions. The authors' purpose was to quantify clinician reliability of force application during a simulated IASTM treatment scenario. Five licensed athletic trainers with previous IASTM training (mean credential experience = 5.2 [4.3] y; median = 5 y) performed 15 one-handed unidirectional sweeping strokes with each of the 3 instruments on 2 consecutive days for a total of 90 data points each. The IASTM stroke application was analyzed for peak normal forces (Fpeak) and mean normal forces (Fmean) by stroke across 2 sessions. The authors' findings indicate IASTM trained clinicians demonstrated sufficient Fpeak and Fmean reliability across a treatment range during a one-handed IASTM treatment. Future research should examine if IASTM applied at different force ranges influences patient outcomes.

Instrument-Assisted Soft Tissue Mobilization Forces Applied by Trained Clinicians During a Simulated Treatment.

CONTEXT: Instrument-assisted Soft Tissue Mobilization (IASTM) is a therapeutic intervention used by clinicians to identify and treat myofascial dysfunction or pathology. However, little is known about the amount of force used by clinicians during an IASTM treatment and how it compares to reports of force in the current literature. OBJECTIVE: To quantify the range of force applied by trained clinicians during a simulated IASTM treatment scenario. DESIGN: Experimental. SETTING: University research laboratory. PARTICIPANTS: Eleven licensed clinicians (physical therapist = 2, chiropractor = 2, and athletic trainer = 7) with professional IASTM training participated in the study. The participants reported a range of credentialed experience from 1 to 15 years (mean = 7 [4.7] y; median = 6 y). INTERVENTION: Participants performed 15 one-handed unidirectional sweeping strokes with each of the 5 instruments for a total of 75 data points each. Force data were collected from a force plate with an attached skin simulant during a hypothetical treatment scenario. MAIN OUTCOME MEASURES: Peak force and average forces for individual strokes across all instruments were identified. Averages for these forces were calculated for all participants combined, as well as for individual participants. RESULTS: The average of peak forces produced by our sample of trained clinicians was 6.7 N and the average mean forces was 4.5 N. Across individual clinicians, average peak forces ranged from 2.6 to 14.0 N, and average mean forces ranged from 1.6 to 10.0 N. CONCLUSIONS: The clinicians in our study produced a broad range of IASTM forces. The observed forces in our study were similar to those reported in prior research examining an IASTM treatment to the gastrocnemius of healthy individuals and greater than what has been reported as effective in treating delayed onset muscle soreness. Our data can be used by researchers examining clinically relevant IASTM treatment force on patient outcomes.

Descriptive Analysis of Forces Applied by Trained Clinicians During Two-Handed Instrument-Assisted Soft Tissue Mobilization.

Instrument-assisted soft tissue mobilization (IASTM) is a common intervention among clinicians. Despite the popularity, little is known about the forces applied by the clinician with the instruments during treatment. The purpose of this investigation was to examine the forces applied by trained clinicians using IASTM instruments during a simulated treatment. Eleven IASTM trained (Graston Technique, Técnica Gavilán, or RockBlades) clinicians (Physical Therapist = 2, Chiropractor = 2, Athletic Trainer = 7) participated in the study. Each clinician performed 75 two-handed strokes distributed evenly across five different IASTM instruments on a skin simulant attached to a force plate. IASTM stroke application was analyzed for peak normal forces (Fpeak) and mean normal forces (Fmean) by stroke. We observed an average Fpeak of 8.9N and Fmean of 6.0N across all clinicians and instruments. Clinicians and researchers may use the descriptive values as a reference for application of IASTM in practice and research.

Test-Retest Reliability of the Total Motion Release® Scale.

CONTEXT: Total Motion Release® (TMR®) is a novel treatment paradigm used to restore asymmetries in the body (eg, pain, tightness, limited range of motion). Six primary movements, known as the Fab 6, are performed by the patient and scored using a 0 to 100 scale. Clinicians currently utilize the TMR® scale to modify treatment, assess patient progress, and measure treatment effectiveness; however, the reliability of the TMR® scale has not been determined. It is imperative to assess scale reliability and establish minimal detectable change (MDC) values to guide clinical practice. OBJECTIVE: To assess the reliability of the TMR® scale and establish MDC values for each motion in healthy individuals in a group setting. DESIGN: Retrospective analysis of group TMR® assessments. SETTING: University classroom. PARTICIPANTS: A convenience sample of 61 students (23 males and 38 females; 25.48 [5.73] y), with (n = 31) and without (n = 30) previous exposure to TMR®. INTERVENTION: The TMR® Fab 6 movements were tested at 2 time points, 2 hours apart. A clinician with previous training in TMR® led participant groups through both sessions while participants recorded individual motion scores using the 0 to 100 TMR® scale. Test-retest reliability was calculated using an intraclass correlation coefficient (2,1) for inexperienced, experienced, and combined student groups. Standard error of measurement and MDC values were also assessed for each intraclass correlation coefficient. OUTCOME MEASURE: Self-reported scores on the TMR® scale. RESULTS: Test-retest reliability ranged from 0.57 to 0.95 across the Fab 6 movements, standard error of measurement values ranged from 4.85 to 11.77, and MDC values ranged from 13.45 to 32.62. CONCLUSION: The results indicate moderate to excellent reliability across the Fab 6 movements and a range of MDC values. Although this study is the first step in assessing the reliability of the TMR® scale for clinical practice, caution is warranted until further research is completed to establish reliability and MDC values of the TMR® scale in various settings to better guide patient care.

Examining the factorial validity of the Quality of Life Scale.

BACKGROUND: Quality of life (QoL) is important to assess in patient care. Researchers have previously claimed validity of the Quality of Life Scale (QOLS) across multiple samples of individuals, but close inspection of results suggest further psychometric investigation of the instrument is warranted. Therefore, the purposes of this study were to: 1) evaluate the proposed five-factor, 15-item and three-factor, 16-item QOLS; 2) if the factor structure could not be confirmed, re-assess the QOLS using exploratory factor analysis (EFA) and covariance modeling to identify a parsimonious refinement of the QOLS structure for future investigation. METHODS: Participants varying in age, physical activity level, and identified medical condition(s) were recruited from clinical sites and ResearchMatch. Confirmatory factor analyses (CFA) were performed on the full sample (n = 1036) based on proposed 15- and 16-item QOLS versions. Subsequent EFA and covariance modeling was performed on a random subset of the data (n1 = 518) to identify a more parsimonious version of the QOLS. The psychometric properties of the newly proposed model were confirmed in the remaining half of participants (n2 = 518). Further examination of the scale psychometric properties was completed using invariance testing procedures across sex and health status sub-categories. RESULTS: Neither the 15- nor 16-item QOLS CFA met model fit recommendations. Subsequent EFA and covariance modeling analyses revealed a one-factor, five-item scale that satisfied contemporary statistical and model fit standards. Follow-up CFA confirmed the revised model structure; however, invariance testing requirements across sex and injury status subgroups were not met. CONCLUSIONS: Neither the 15- nor 16-item QOLS exhibited psychometric attributes that support construct validity. Our analyses indicate a new, short-form model, might offer a more appropriate and parsimonious scale from some of the original QOLS items; however, invariance testing across sex and injury status suggested the psychometric properties still vary between sub-groups. Given the scale design concerns and the results of this study, developing a new instrument, or identifying a different, better validated instrument to assess QoL in research and practice is recommended.

Impact of preoperative BRCA1/2 testing on surgical decision making in patients with newly diagnosed breast cancer.

The utility and benefit of integrating germ-line genetic testing into the management of newly diagnosed breast cancer is not fully understood. This study evaluates the impact of preoperative genetic testing on surgical decision making in patients with newly diagnosed breast cancer. Women with newly diagnosed breast cancer were classified into preoperative or postoperative genetic testing group, depending on whether they received their genetic testing results prior to or after their first surgery. Demographics, tumor characteristics, surgical treatment, and results of genetic testing were retrospectively collected. A total of 997 patients were evaluated, 531 (53.3%) in the preoperative genetic testing group and 466 (46.7%) in the postoperative group. Majority (87.2%) of BRCA-positive women in the preoperative group underwent bilateral mastectomy as first surgery. Majority (70.6%) of BRCA-positive women in postoperative group underwent partial mastectomy as first surgery prior to receiving their genetic testing result. Nearly half (41.2%) of these women in the postoperative group with partial mastectomy underwent bilateral mastectomy after receiving their BRCA-positive result. Time from diagnosis to first surgery was longer in the preoperative genetic testing group. Younger age, bilateral cancer, BRCA1/2-positive results, and preoperative genetic testing were significant predictors of bilateral mastectomy at first surgery. Preoperative genetic testing impacts initial surgical treatment in BRCA1/2-positive patients and reduces the need for additional surgeries.

Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis.

BACKGROUND: The impact of timing of genetic testing on surgical decision making in women with breast cancer and BRCA mutation is not well known. METHODS: Women who were found to carry a deleterious BRCA mutation and had been diagnosed with breast cancer were identified from a database at Beaumont Health. Women who had received BRCA positive results at least a day prior to their index surgery were considered to be aware of their mutation status prior to surgery. Baseline characteristics and surgical choices were compared between women who were aware of their mutation status prior to surgery and those who were not. Fischer's exact test was used for categorical variables and Mann-Whitney U-Test was used for continuous variables. RESULTS: A total of 220 patients were included in the final analysis, 208 (94.5%) with unilateral breast cancer and 12 (5.5%) with bilateral breast cancer. Out of the 208 patients with unilateral breast cancer, 106 (51.0%) patients were aware of their mutation status prior to index surgery while 102 (49%) were not. A significantly (p < 0.05) higher proportion of women underwent contralateral prophylactic mastectomy in the group that was aware of their mutation status prior to index surgery compared to the group that was not (76.4% vs 14.7%). CONCLUSIONS: Our study demonstrates that knowledge of BRCA mutation status impacts surgical decision making in favor of bilateral mastectomy in patients who are aware of their results prior to index surgery. This finding supports the practice of preoperative genetic testing in patients with newly diagnosed breast cancer.

Outcomes of retesting BRCA negative patients using multigene panels.

The utility of multigene panels in retesting patients who previously tested negative for a pathogenic mutation by BRCA1/2 testing is not well established. Patients who previously tested negative for a pathogenic BRCA1/2 mutation by standard sequencing, and who were seen in cancer genetics center between November 1, 2012 and June 30, 2015 for additional testing utilizing multigene panels, were identified using our genetic testing registry. Data on demographics, personal and family history of cancer, results of panel testing and the impact on patient management was collected retrospectively. A total of 122 patients underwent retesting during the study period. Thirteen (11%) pathogenic mutations were identified in the following genes: CHEK2(4), PALB2(3), ATM(2), CDH1, APC, BARD1 and MRE11A. Eleven out of these thirteen mutations were deemed actionable based on published guidelines. Of these eleven, seven patients had an actual change in clinical management as a result of retesting. Furthermore, retesting also led to a change in clinical management in the two patients with mutations in genes (BARD1 and MRE11A) which do not have clear guidelines for management. There were no significant differences in demographics and personal and family history of cancer between patients who tested positive and those who tested negative on retesting. This study demonstrates the clinical utility of multigene panels in a group of high risk individuals who previously tested negative for a BRCA1/2 mutation. This retesting approach revealed a pathogenic mutation in 11% of cases. Retesting led to significant change in clinical management in a majority of patients with actionable mutations (7 out of 11), as well as in those with mutations in genes which do not have specific management guidelines.

Comparison of Informed Consent Preferences for Multiplex Genetic Carrier Screening among a Diverse Population.

Multiplex genetic carrier screening is increasingly being integrated into reproductive care. Obtaining informed consent becomes more challenging as the number of screened conditions increases. Implementing a model of generic informed consent may facilitate informed decision-making. Current Wayne State University students and staff were invited to complete a web-based survey by blast email solicitation. Participants were asked to determine which of two generic informed consent scenarios they preferred: a brief versus a detailed consent. They were asked to rank the importance of different informational components in making an informed decision and to provide demographic information. Comparisons between informational preferences, demographic variables and scenario preferences were made. Six hundred ninety three participants completed the survey. When evaluating these generic consents, the majority preferred the more detailed consent (74.5%), and agreed that it provided enough information to make an informed decision (89.5%). Those who thought it would be more important to know the severity of the conditions being screened (p = .002) and range of symptoms (p = .000) were more likely to prefer the more detailed consent. There were no significant associations between scenario preferences and demographic variables. A generic consent was perceived to provide sufficient information for informed decision making regarding multiplex carrier screening with most preferring a more detailed version of the consent. Individual attitudes rather than demographic variables influenced preferences regarding the amount of information that should be included in the generic consent. The findings have implications for how clinicians approach providing tailored informed consent.