Prospective Study Evaluating Whether Standard Peripheral Intravenous Catheters Can Be Used for Blood Collection Throughout Hospital Stay.

Blood collection via venipuncture is the most common invasive procedure for inpatients, who experience an average of 1.6 to 2.2 blood collection episodes per day, for a total of approximately 450 million in US hospitals annually. In addition to being painful, venipuncture incurs the risk of vessel depletion, infection, and staff needlestick injury. A possible alternative is to use peripheral intravenous catheters (PIVCs), because PIVCs are placed in the majority of patients admitted to the hospital. Although there are anecdotal accounts of successfully using PIVCs for inpatient blood collection, the utility of this method has not been rigorously studied. The authors conducted a single-center prospective study among inpatients to evaluate blood collection success, defined as sufficient sample volume (4 mL) and no or minimal hemolysis, in PIVCs with a dwell time between 12 and 87 hours. Only 27% (28/105) of aspiration attempts were successful within this time frame. There was no difference in success rate with respect to PIVC dwell time, gauge, or location. These findings highlight the continued need for innovative, alternative solutions to meet the high demand for inpatient blood collection.

Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.

Genetic counseling careers continue to evolve, yet there remains a lack of information about hiring trends in the genetic counseling profession. In this study, job advertisements in the United States and Canada were analyzed, using the National Society of Genetic Counselors (NSGC) Job Connections and the American Board of Genetic Counseling (ABGC) eBlasts from 2014 to 2016 to appraise job roles, qualifications, settings, specialties, and type. NSGC had 1875 advertised openings from 2014 to 2016, while ABGC had 373 advertised openings. Jobs containing a "counseling" role increased as a percentage from 2014 to 2016 when advertised by NSGC (χ2  = 25.52, p < 0.000001) but decreased each year from 2014 to 2016 as a percentage when advertised through ABGC (χ2  = 14.29, p = 0.0008). In the ABGC job postings, it was noted that 36% of job postings were advertised for other specialties (not solely cancer, pediatric, or prenatal) in 2014, and increased to 67% in 2016 (χ2  = 10.09, p = 0.02). Examining the job specialties posted by ABGC and NSGC, several new or unique roles were found in the job advertisements such as ophthalmology counselor, variant curator, rare diseases information specialist, and clinical policy analyst. Roles for temporary, contract or fellowship positions are possibly becoming more common, along with small upturns in positions that are off-site or remote. In analyzing the changing workforce, there was a statistically significant decrease identified in jobs advertised by NSGC in the laboratory setting from 28% in 2014 to 17% in 2016 (χ2  = 24.12, p = 0.000024). This information on the evolving career of genetic counseling is valuable for the current workforce and training programs as they adapt with the changing landscape of the profession.

Automated Tracking and Quantification of Autistic Behavioral Symptoms Using Microsoft Kinect.

The prevalence of autism spectrum disorder (ASD) has risen significantly in the last ten years, and today, roughly 1 in 68 children has been diagnosed. One hallmark set of symptoms in this disorder are stereotypical motor movements. These repetitive movements may include spinning, body-rocking, or hand-flapping, amongst others. Despite the growing number of individuals affected by autism, an effective, accurate method of automatically quantifying such movements remains unavailable. This has negative implications for assessing the outcome of ASD intervention and drug studies. Here we present a novel approach to detecting autistic symptoms using the Microsoft Kinect v.2 to objectively and automatically quantify autistic body movements. The Kinect camera was used to film 12 actors performing three separate stereotypical motor movements each. Visual Gesture Builder (VGB) was implemented to analyze the skeletal structures in these recordings using a machine learning approach. In addition, movement detection was hard-coded in Matlab. Manual grading was used to confirm the validity and reliability of VGB and Matlab analysis. We found that both methods were able to detect autistic body movements with high probability. The machine learning approach yielded highest detection rates, supporting its use in automatically quantifying complex autistic behaviors with multi-dimensional input.

Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD).

The purpose of this study was to assess use of genetic testing and corresponding genetic services for children with Autism Spectrum Disorder (ASD). Survey data from 397 parents of individuals with ASD was collected using the Center for Autism and Related Disabilities client registry. Participants reported that 41.2% of the individuals with ASD had undergone any type of genetic testing. However, only 21.3% of individuals with ASD had been referred to a genetics specialist. Diagnosis and level of functioning were significantly associated with both referral to a genetics specialist and having undergone any genetic testing. In addition, Hispanic ancestry was associated with increased referral to genetic testing. Concerns about the limited benefits of genetic testing and prohibitive costs were potential barriers to pursuing genetic testing. Overall, low numbers of individuals with ASD have a history of undergoing genetic testing or receiving genetic services. Possible reasons include low referral rates as well as concerns by parents about cost and relevance, and lack of availability. These findings confirm the historical trend for providing genetic testing and genetic services to those with the greatest impairments.

Collection of family health history for assessment of chronic disease risk in primary care.

BACKGROUND: Family health history can predict a patient's risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in primary care. METHODS: Family health history data were collected and analyzed to determine the presence of quality indicators that are necessary for effective and accurate assessment of disease risk. RESULTS: More than 99% of the 390 paper charts analyzed contained information about family health history, which was usually scattered throughout the chart. Information on the health of the patient's parents was collected more often than information on the health of other relatives. Key information that was often not collected included age of disease onset, affected side of the family, and second-degree relatives affected. Less than 4% of patient charts included family health histories that were informative enough to accurately assess risk for common complex diseases. LIMITATIONS: Limitations of this study include the small number of charts reviewed per provider, the fact that the sample consisted of primary care providers in a single geographic location, and the inability to assess ethnicity, consanguinity, and other indicators of the informativeness of family health history. CONCLUSIONS: The family health histories collected in primary care are usually not complete enough to assess the patient's risk for common complex diseases. This situation could be improved with use of tools that analyze the family health history information collected and provide risk-stratified decision support recommendations for primary care.

Development and validation of a primary care-based family health history and decision support program (MeTree).

INTRODUCTION: Family health history is a strong predictor of disease risk. To reduce the morbidity and mortality of many chronic diseases, risk-stratified evidence-based guidelines strongly encourage the collection and synthesis of family health history to guide selection of primary prevention strategies. However, the collection and synthesis of such information is not well integrated into clinical practice. To address barriers to collection and use of family health histories, the Genomedical Connection developed and validated MeTree, a Web-based, patient-facing family health history collection and clinical decision support tool. MeTree is designed for integration into primary care practices as part of the genomic medicine model for primary care. METHODS: We describe the guiding principles, operational characteristics, algorithm development, and coding used to develop MeTree. Validation was performed through stakeholder cognitive interviewing, a genetic counseling pilot program, and clinical practice pilot programs in 2 community-based primary care clinics. RESULTS: Stakeholder feedback resulted in changes to MeTree's interface and changes to the phrasing of clinical decision support documents. The pilot studies resulted in the identification and correction of coding errors and the reformatting of clinical decision support documents. MeTree's strengths in comparison with other tools are its seamless integration into clinical practice and its provision of action-oriented recommendations guided by providers' needs. LIMITATIONS: The tool was validated in a small cohort. CONCLUSION: MeTree can be integrated into primary care practices to help providers collect and synthesize family health history information from patients with the goal of improving adherence to risk-stratified evidence-based guidelines.

Stem cell research and therapy: the position of the National Society of Genetic Counselors.

Stem cells' regenerative capabilities present a unique opportunity to treat human illness and injury. In 2003, the National Society of Genetic Counselors (NSGC) issued a position statement supporting stem cell use in research settings. Almost a decade later, in response to legislative and technological developments within the field of stem cell science, NSGC convened a task force to revisit and update its statement on stem cell research. In doing so, the Task Force developed a new statement reaffirming NSGC's support for stem cell research and endorsed continued stem cell therapy development. NSGC recognizes that the unique potential of stem cell therapy to treat human disease and injury can be realized only through research on a diverse array of stem cell lines drawn from multiple sources, including embryonic, cord blood, and adult cells. NSGC supports the use of stem cells in research and clinical settings when practices adhere to defined ethical and legal guidelines. Available stem cell lines should reflect our genetically diverse population, and donor recruitment should be without discrimination or coercion and include a thorough and dynamic informed consent process.

Clinical causes and treatment of the thrombotic storm.

Thrombotic storm represents an extreme prothrombotic phenotype, characterized by multiple thrombotic events affecting diverse vascular beds occurring over a brief period of time. Thrombotic events involve venous and arterial circulation, including unusual locations, such as cerebral sinus venous thrombosis, intra-abdominal thromboembolic occlusions and microvascular events. Some patients will have antiphospholipid antibodies, but a significant number have no identifiable hypercoagulable state. The mainstay of treatment consists of anticoagulant therapy, although some patients appear to benefit from the addition of immunomodulatory therapies. Other disorders that share this thrombotic storm phenotype include catastrophic antiphospholipid syndrome, spontaneous heparin-induced thrombocytopenia and similar aggressive clinical disorders. Ongoing studies are focused on identifying underlying genetic factors that may predispose patients to develop this extreme clinical phenotype.

The use of a family history risk assessment tool within a community health care system: views of primary care providers.

Primary care providers (PCPs) offered input regarding the incorporation of a family health history (FHH) risk assessment tool into a community health care system (CHCS). Sixteen PCPs participated in one of three focus groups. Perceived impediments included the lack of standard screening guidelines, effective screening tests, genetic counseling resources, and services for high-risk patients. The PCPs were concerned about their level of expertise, the cost of preventive health care, and genetic discrimination. They also were concerned about the use of a FHH tool by oncologists within the CHCS because of communication gaps between oncologists and PCPs, lack of clarity regarding follow-up and legal liability, and reimbursement issues. To integrate a FHH tool into a CHCS, PCPs will need consultation and referral services, evidence-based recommendations, and "just-in-time" educational resources. Oncologists who use the tool will need to develop a streamlined communication system with PCPs, establish clearly defined roles, and ensure patient follow-up.

Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10-12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apolipoprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.

Thrombotic storm revisited: preliminary diagnostic criteria suggested by the thrombotic storm study group.

Physicians periodically encounter patients with an extraordinarily accelerated course of hypercoagulability who develop thromboses in multiple organ systems over days to weeks. Such patients may harbor underlying hypercoagulable clinical conditions, but their clinical course sets them apart from most patients with similar risk factors. Underlying triggers of "thrombotic storm" include pregnancy, inflammation, trauma, surgery, and infection. Aggressive anticoagulant therapy may control thrombotic storm, yet thrombotic storm may resume with even brief interruptions of anticoagulant therapy. The authors of this communication formed the Thrombotic Storm Study Group in order to identify clinical characteristics of such patients, thus constructing preliminary criteria to better define, identify, and study the course of patients deemed to have thrombotic storm. The characteristics culled from these 10 patients are: younger age (oldest was 38 years old at time of presentation); at least 2 arterial or venous (or both) thromboembolic events, typically in unusual sites with or without microangiopathy; unexplained recurrence; and frequently proceeded by a trigger. The following characteristics were not used in defining thrombotic storm: underlying malignancies; use of acute myocardial infarction as a defining arterial event in the setting of established coronary artery disease; use of cocaine; thrombotic complications expected with various intravascular devices; known paroxysmal nocturnal hemoglobinuria or myeloproliferative disorders; severe trauma; and premorbid conditions.

Primer on genetic counseling.

Once limited to rare mendelian disorders, genetic counseling is playing an ever-increasing role in the multidisciplinary approach to predicting, diagnosing, and managing neurologic disease. However, genetic counseling services may not be optimized because of lack of availability and lack of knowledge regarding when it is appropriate to refer, what occurs in genetic counseling, and how genetic counseling can affect care. These issues are addressed in this article, along with corresponding clinical scenarios. Websites to find genetic counseling services and resources are also provided.

Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care.

PURPOSE: To assess the lay public's knowledge of, and beliefs about, genetics and genetic testing to create an educational initiative that promotes acceptance and utilization of genomic medicine in primary health care. METHODS: A telephone survey of English-speaking adults in Guilford County, North Carolina was conducted in 2006 to identify community members' educational needs regarding genetics and genetic testing. RESULTS: Most respondents recognized the connection between family history and disease risk. A majority did not appear to know about: (1) basic principles of inheritance, (2) laws prohibiting genetic discrimination, and (3) the availability and limitations of genetic tests. About 25% thought that they could not reduce their risk if they have a genetic predisposition for disease. Knowledge level was affected by education, experience, age, and race. CONCLUSION: If primary care providers use family history as a risk assessment tool, community education programs must address (1) the collection of family health history, (2) legislation regarding genetic nondiscrimination, (3) benefits and limitations of existing genetic tests, and (4) genetic determinism. Programs emphasizing practical, "how to" information can be targeted to individuals likely to collect family history information and address misperceptions about discrimination, testing, and determinism.

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.

Factor structure, reliability, and validity of the Beck Anxiety Inventory in adolescent psychiatric inpatients.

The purpose of this study was to examine further the factor structure, reliability, and validity of the Beck Anxiety Inventory (BAI) in samples of adolescents, ages 14 to 18 years. The BAI is a 21-item self-report measure of anxiety severity. The BAI total score differentiated between the inpatient and high-school adolescents. In the psychiatric inpatient sample, girls obtained higher anxiety-severity scores than boys; no gender differences were obtained for the BAI total score in the high-school sample. Confirmatory factor analyses did not provide adequate fit for the two- factor oblique BAI models to the separate male and female psychiatric inpatient data. Principal axes with varimax and promax rotations initially identified a four-factor solution in the separate male and female inpatient participants. However, second-order analyses of the primary factors provided stronger support for a single-factor structure in each sample. Estimates of reliability for the BAI were adequate in samples of psychiatric inpatient and high-school adolescents. Evidence for convergent and discriminant validity of the BAI was investigated separately in the male and female inpatient samples. Overall, the BAI showed acceptable psychometric properties in these populations.