Disability education and implications for genetic counselor training.

The genetic counseling (GC) community has faced criticism about the duality of promoting patient autonomy while also advocating for individuals with disabilities. This study assessed the attitudes of the disability community and GCs to identify content that should be included in GC disability education and evaluate the landscape of GC disability education. Members of the disability community and GCs completed an electronic survey distributed through electronic listservs and partnering organizations.

Genetics in the NICU: Nurses' Perceived Knowledge and Desired Education.

Background Many infants admitted to the neonatal intensive care unit (NICU) have genetic conditions. Previous research has shown that gaps exist in the genetics knowledge of nurses and that they lack comfort applying genetics information to clinical practice. Studies assessing the knowledge or comfort of NICU nurses with genetics have not previously been completed.

Influence of genetic counselor medical history on specialty and psychosocial practice in North America.

A personal or family medical history is inherently part of a genetic counselor's life story. Yet, the degree to which this history influences counselors' clinical specialty choice and professional psychosocial practice is unexplored. A medical diagnosis may foster capacity for greater empathy, understanding, and rapport-building self-disclosure.

The impact of genetic counseling on women's grief and coping following termination of pregnancy for fetal anomaly.

Pregnancy termination for fetal anomaly (TFA) is a unique experience that can cause women to develop long-term complicated grief. Although a woman's experience with her healthcare providers has been previously identified as an important factor in coping, studies have shown that many women report their health care as lacking to some extent. Given the overlap in women's needs and the practice scope of a genetic counselor (GC), this study aimed to examine how genetic counseling may impact coping and explore women's expectations of GCs pre- and post-TFA.

Examining genetic counselors' implicit attitudes toward disability.

Genetic counselors have a unique role in healthcare that requires a balance between being a patient educator and patient advocate when discussing disability. This study aimed to determine genetic counselors' implicit attitudes toward disability, and identify what factors affect these implicit attitudes. Case scenarios involving disability were used to examine hypothetical estimates of time spent on different topics within a genetic counseling session.

Clinical applicability of proposed algorithm for identifying individuals at risk for hereditary hematologic malignancies.

Multiple genes have been identified to cause hereditary predispositions to hematologic malignancies, and characterized by an increased risk to develop myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and/or aplastic anemia (AA). Referral algorithms for patients who may be at higher risk have been proposed, with limited data regarding applicability. Our study aimed to evaluate referral criteria on a population of MDS/AML/AA patients.

Common Risk Stratification of Hospital and Ambulatory Patients.

The care of patients with multiple chronic conditions and those near the end-of-life is often compromised by miscommunications among the healthcare teams. These might be improved by using common risk strata for both hospital and ambulatory settings. We developed, validated, and implemented an all-payer ambulatory risk stratification based on the patients' predicted probability of dying within 30 days, for a large multispecialty practice.

Introduction of cell-free DNA screening is associated with changes in prenatal genetic counseling indications.

The introduction of cell-free DNA screening, or non-invasive prenatal testing (NIPT), for chromosome abnormalities has greatly impacted prenatal care since its introduction in late 2011. We aimed to evaluate the association between the introduction of cell-free DNA screening and indication and referral patterns for genetic counseling at a large US academic medical center by comparing the percentage of each counseling indication between the time period prior to the introduction of cell-free DNA screening (2006-2011) and following its introduction (2012-2016) using multivariable Poisson regression models. Genetic counseling indications for positive carrier screens, average risk patients, abnormal ultrasound findings, and family history indications were significantly higher following the introduction of NIPT while advanced maternal age and abnormal maternal serum screening indications dropped significantly.

Prenatal chromosomal microarray uptake with invasive prenatal diagnosis: How many patients take the leap?

Objective: Characterize the uptake of chromosomal microarray analysis (CMA) among women undergoing invasive prenatal diagnosis at a large academic institution over a 4-year time period.

Methods: Retrospective database review of women who underwent invasive prenatal diagnosis via chorionic villus sampling (CVS) or amniocentesis. Entries were reviewed for demographic and clinical information.

Attitudes Toward and Uptake of Prenatal Genetic Screening and Testing in Twin Pregnancies.

The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15).

Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.

Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care.

The risk-outcome-experience triad: Mortality risk and the hospital consumer assessment of healthcare providers and systems survey.

Background: Studies have shown an association between the Hospital Consumer Assessment of Healthcare Providers and Systems Survey (HCAHPS) scores and clinical quality. The mortality risk on admission predicts adverse events. It is not known if this risk also portends a suboptimal patient experience.

Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option.

Objective Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum. In October 2013, the option to screen for additional trisomies and select microdeletion syndromes became clinically available. The complex testing methods, oftentimes unclear clinical utility of results, and lack of professional guidelines renders it challenging for clinicians to keep abreast of evolving prenatal screening options.

Support Desired by Women Following Termination of Pregnancy for a Fetal Anomaly.

With the rapidly evolving field of prenatal testing, there is a growing need to provide support for women pursuing termination of pregnancy following the discovery of a fetal anomaly. Previous studies have documented that women in this situation often feel unsupported, but the type of resources desired by this population remains undetermined. We studied the awareness and utilization of support resources in 51 women at the time of the procedure, at 6 weeks, and at 3 months following the event.

Spinal and paraspinal fungal infections associated with contaminated methylprednisolone injections.

Background: A nationwide outbreak of fungal infections was traced to injection of Exserohilum-contaminated methylprednisolone. We describe our experience with patients who developed spinal or paraspinal infection after injection of contaminated methylprednisolone.

Methods: Data were assembled from the Michigan Department of Community Health, electronic medical records, and magnetic resonance imaging (MRI) reports.

Implementation of a mortality prediction rule for real-time decision making: feasibility and validity.

Background: A previously published, retrospectively derived prediction rule for death within 30 days of hospital admission has the potential to launch parallel interdisciplinary team activities. Whether or not patient care improves will depend on the validity of prospectively generated predictions, and the feasibility of generating them on demand for a critical proportion of inpatients.

Objective: To determine the feasibility of generating mortality predictions on admission and to validate their accuracy using the scoring weights of the retrospective rule.

The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine.

Objective: Noninvasive prenatal testing (NIPT) via cell-free fetal DNA in the maternal circulation is a highly sensitive and specific new testing option. The objective of this study was to determine the impact of NIPT on the uptake of first trimester screening (FTS) and invasive genetic testing.

Study Design: Uptake of prenatal testing was investigated in women referred for advanced maternal age or abnormal screening to the University of Texas Health Maternal-Fetal Medicine Clinics in Houston.

Mortality predictions on admission as a context for organizing care activities.

Background: Favorable health outcomes are more likely to occur when the clinical team recognizes patients at risk and intervenes in consort. Prediction rules can identify high-risk subsets, but the availability of multiple rules for various conditions present implementation and assimilation challenges.

Methods: A prediction rule for 30-day mortality at the beginning of the hospitalization was derived in a retrospective cohort of adult inpatients from a community hospital in the Midwestern United States from 2008 to 2009, using clinical laboratory values, past medical history, and diagnoses present on admission.

Clinical and economic outcomes from a community hospital's antimicrobial stewardship program.

Background: Data from community antimicrobial stewardship programs (ASPs) are limited. We describe clinical and economic outcomes from the first year of our hospital's ASP.

Methods: The ASP team comprised 2 infectious disease physicians and 3 intensive care unit pharmacists.

First-trimester screening and its impact on uptake of diagnostic testing.

Objective: To determine the influence of first-trimester screening (FTS) on a patient's decision regarding prenatal diagnostic testing (PDT) and if the uptake rate of PDT has changed among women with advanced maternal age (AMA) following the January 2007 American College of Obstetricians and Gynecologists statement regarding FTS.

Methods: A database review was performed for the 2 years before and the 2 years after the January statement. A total of 7424 patient records were evaluated to determine the number of AMA women who obtained PDT, the number of positive and negative FTS results, and how many of those women had PDT.

Maternal serum screening: results disclosure, anxiety, and risk perception.

Although increased maternal anxiety following the disclosure of positive second-trimester maternal serum screen (MSS) results has been well documented, how this anxiety correlates with the method of results disclosure has not been well defined. This pilot study aimed to determine how abnormal second-trimester MSS results are disclosed, the level of anxiety experienced by women as a result of this disclosure, and the accuracy of their risk perception. Women referred for prenatal genetic counseling were asked to complete a questionnaire including demographics, standardized Spielberger State-Trait Anxiety Inventory, results disclosure information, and perceived risk.

An electronic strategy to identify hospitalized heart failure patients.

Background: A common challenge in improving performance measures regarding heart failure (HF) is identifying patients early in the course of their hospitalization so that multidisciplinary education and clinical interventions can be implemented. We describe the accuracy of using an electronic pharmacy-based strategy to identify hospitalized patients likely to have a principal diagnosis of HF at discharge.

Methods: We evaluated 2 strategies.