Prenatal genetic counseling practices regarding recommendations for cancer genetic counseling: A retrospective chart review from two academic institutions.

Prenatal and preconception genetic counselors are trained to take patient pedigrees to evaluate for potential risks for genetic conditions, including hereditary cancer syndromes. However, little research has been published on how often prenatal/preconception genetic counselors provide recommendations for cancer genetic counseling solely based on a family history of cancer. Therefore, this study sought to (a) characterize the types of cancers recognized for a cancer genetic counseling recommendation, (b) analyze appointment indications associated with discussion documentation, and (c) investigate how often National Comprehensive Cancer Center (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch syndrome were met and how often a recommendation for cancer genetic counseling was made. A retrospective chart review and pedigree analysis were performed for prenatal/preconception genetic counseling patients with a family history of cancer seen at two academic institutions between August 10, 2019, and December 1, 2019. In the 170 charts included, a recommendation for cancer genetic counseling was documented in 40% of all genetic counseling summaries and in 59.2% of summaries when NCCN genetic testing criteria for HBOC and/or Lynch syndrome was met. Using chi-squared and logistic regression analysis, these data support that individuals were significantly more likely to receive a recommendation when NCCN genetic testing criteria were met (OR = 5.01, p < .001) or when the family history contained two or more types of cancer (OR = 2.24, p = .02). Overall, this study identified the NCCN genetic testing criteria for HBOC and Lynch syndrome for which recommendations for cancer genetic counseling were commonly missed. This characterization suggests that continuing education for prenatal and preconception genetic counselors on updated NCCN guidelines may be helpful for improving rates of cancer genetic counseling referrals, uptake of genetic testing, and cancer screening recommendations.

Evaluation of the electronic self-report Symptom Screening in Pediatrics Tool (SSPedi).

OBJECTIVE: We previously developed the paper-based Symptom Screening in Pediatrics Tool (SSPedi) designed for paediatric cancer symptom screening. Objectives were to evaluate and refine the electronic mobile application (app) of SSPedi using the opinions of children with cancer. METHODS: Participants were children 8-18 years of age with cancer. Participants completed electronic SSPedi on their own and then responded to semistructured questions to determine whether they found electronic SSPedi easy or difficult to complete and understand, understood and liked the app features (audio and animation), and understood previously difficult to understand concepts with the introduction of a help menu. After each group of 10 children, responses were reviewed to determine whether modifications were required. RESULTS: 20 children evaluated electronic SSPedi. None found electronic SSPedi difficult to complete or understand. All children understood the app features and each of the 4 more difficult to understand concepts after using the help menu. 19 of 20 children thought the app was a good way to communicate with doctors and nurses. CONCLUSIONS: We finalised an electronic version of SSPedi that is easy to use and understand with features specifically designed to facilitate child self-report. Future work will evaluate the psychometric properties of electronic SSPedi.

Physicians' Awareness and Utilization of Genetic Services in Texas.

The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to genetic tests and services often hinges on physicians' ability to identify patients at risk for genetic disease and provide appropriate testing and counseling or refer to genetic specialists. Recent research demonstrates the need for referrals to genetic specialists by showing that many physicians lack skills required to perform appropriate genetic services, such as making proper risk assessments, providing genetic counseling, ordering genetic testing and interpreting results. However, little research exists on physicians' awareness and utilization of genetic services. In this study, an electronic survey evaluating practicing physicians' awareness of, utilization of and perceived barriers to genetic services in Texas, and interest in learning more about genetics and genetic services was distributed via state physician organizations. Of the 157 participants, approximately half reported they were moderately or very aware of genetic testing and services in their area. Very few reported awareness of telemedicine services. Over two-thirds reported never or rarely referring to genetic counselors or other genetic specialists, despite 75% reporting they had noticed an increased impact of genetics on their field and 61% reporting they had discussed genetics more in their day-to-day practice in the last 5-10 years. Only 20% reported genetics was very integral to their specialty. Over three-fourths of all participants indicated interest in learning more about genetics, genetic testing, and genetic services. Among the most frequently chosen barriers to genetic counselors were awareness-related barriers such as not knowing how to refer to a genetic counselor. Responses to many items varied significantly by medical specialty. The results identify a need to increase awareness of genetic services and referral logistics. Specific findings can help direct outreach efforts to educate clinicians, such as developing clinically meaningful, specialty-specific educational objectives.

Prenatal cfDNA screening results indicative of maternal neoplasm: survey of current practice and management needs.

OBJECTIVE: To determine genetic counselors' current practices and management needs for patients with prenatal cfDNA screening results indicative of maternal neoplasm. METHODS: A survey was completed by genetic counselors recruited via the National Society of Genetic Counselors (NSGC). RESULTS: Over 300 genetic counselors were surveyed. Almost all participants (95%) were aware that Noninvasive Prenatal Testing (NIPT) results may suggest maternal neoplasm, and 77% reported they would disclose such results. However, only 29% routinely communicate this possibility to patients in a pre-test setting. Management recommendations made by counselors were highly variable, and over half (51.8%) stated they would feel uncomfortable or very uncomfortable counseling a patient with these results. While less than half (44.3%) believed the current benefits of NIPT's ability to suggest maternal neoplasm outweigh its potential harms, 80.2% recognized it would be beneficial in the future. A vast majority of counselors (91.3%) felt institutional or national guidelines were needed for patient management. CONCLUSION: A majority of counselors neither felt properly equipped nor comfortable counseling patients with prenatal cfDNA results suggestive of maternal neoplasm. This study demonstrates a need for collaboration amongst clinicians, researchers, and laboratories to publish data regarding NIPT results indicative of maternal neoplasm, and for the creation of management guidelines. © 2016 John Wiley & Sons, Ltd.

Development of an Individualized Yoga Intervention to Address Fatigue in Hospitalized Children Undergoing Intensive Chemotherapy.

Purpose Fatigue is an important problem in children receiving intensive chemotherapy and hematopoietic stem cell transplantation (HSCT). Exercise may be an effective intervention for fatigue. Individualized yoga represents an ideal intervention because it can be tailored according to an individual child's needs. Little is known about how to structure a standardized yoga program for intensivelytreated children. Therefore, this study describes the development of a yoga program and an approach to monitoring sessions suitable for hospitalized children receiving intensive chemotherapy or HSCT. Methods The yoga program was designed to increase mobility in hospitalized children and to provide children with relaxation techniques that could be used independently in a variety of environments. The program was founded on 4 key tenets: safety, adaptability, environmental flexibility, and appeal to children. We also developed quality and consistency assurance procedures. Results A menu format with a fixed structure was selected for the yoga program. Each yoga session contained up to 6 sections: breathing exercises, warmup exercises, yoga poses, balancing poses, cool-down poses, and final relaxation. Yoga instructors selected specific yoga poses for each session from a predetermined list organized by intensity level (low, moderate, or high). Monitoring procedures were developed using videotaping and multirater adjudication. Conclusion We created a standardized yoga program and an approach to monitoring that are now ready for incorporation in clinical trials. Future work should include the adaptation of the program to different pediatric populations and clinical settings.

A review of symptom screening tools in pediatric cancer patients.

PURPOSE OF REVIEW: Children receiving chemotherapy experience a high burden of symptoms. The purposes of this review were to identify symptom assessment tools used in pediatric cancer patients published in the last year; describe the characteristics of the identified tools; and evaluate their appropriateness for symptom screening and to alter patient management. RECENT FINDINGS: We identified six different symptom screening or assessment tools used across 10 studies in the past year. Four instruments contained 30 or more items. Patient management was not altered on the basis of identified symptoms in any of these studies. SUMMARY: Symptom assessment in pediatric oncology continues to be an active area of study but the available instruments are not yet used to guide symptom management. Future research should focus on implementing active and ongoing symptom screening into clinical practice and determining if active symptom screening improves patient outcomes. Electronic symptom screening tools may improve the feasibility of incorporating symptom screening tools into routine practice.

A pilot study to evaluate the feasibility of individualized yoga for inpatient children receiving intensive chemotherapy.

BACKGROUND: Fatigue is an important problem in paediatric cancer patients and yoga may be an effective intervention. The primary objective was to determine the feasibility of individualized yoga for hospitalized children receiving intensive chemotherapy. METHODS: We included English-speaking children and adolescents aged 7-18 years receiving intensive chemotherapy or haematopoietic stem cell transplantation (HSCT). Yoga was conducted three times weekly for three weeks. The primary outcome was feasibility, defined as ability to deliver at least 60% of planned sessions. Secondary outcomes were parent-reported Pediatric Quality of Life Inventory (PedsQL) Multidimensional Fatigue Scale, Fatigue Scale-Parent, PedsQL Generic Core Scales and PedsQL Acute Cancer Module. RESULTS: Between January and October 2013, 11 patients were enrolled. Median age was 14.0 (range 7.7-16.4) years and 6 (55%) were boys. Yoga was feasible with 10/11 participants meeting the threshold for feasibility. The median number of yoga sessions was 9 (range 3-13). No adverse events were attributed to yoga. Mean±standard deviation for the day 21 proxy-reported PedsQL general fatigue scores was 55.6±15.5. Qualitative comments suggested design changes for future yoga studies. CONCLUSIONS: Individualized yoga is feasible for inpatient children receiving intensive chemotherapy. Future work will include development and conduct of a randomized trial for fatigue amelioration. TRIAL REGISTRATION: ClinicalTrials.gov NCT02105389.

A descriptive survey of the educational preparation and practices of antenatal educators in ireland.

Antenatal education is recommended to prospective parents, yet little is known about the educational preparation of the facilitators of this education, or of the educational practices they use. The aim of this study was to investigate the educational preparation and practices of antenatal educators in Ireland. Data were collected using a questionnaire structured on the three components (abilities, opportunities, and means) of Stamler's theoretical framework of enablement. Eighty-four of the 120 antenatal educators responded (70%), and this included midwives, public health nurses, physiotherapists, and private antenatal educators. Findings describe a picture of varied educational preparation for the antenatal educator with a range of educational practices being used. Within public antenatal classes, large class size was a barrier to providing a participatory educational approach.

Improving student learning on a midwifery education programme by using a benchmark course portfolio as a means of reflection and peer review.

The idea of scholarship within disciplines has long been discussed in the relevant literature. The concept of scholarship in teaching and learning has its foundations in Boyer's (1990) seminal work Scholarship Reconsidered. In this, Boyer made the case for teaching to be enhanced and made public and to be credited with equal weight as research activity within academic institutions. The activities of teaching and learning are truly academia's raison d'être however they get obscured in the mists of the importance placed on research activity. To this end it is vital that educators begin to critically examine their teaching to fully inform research and practice. One of the lenses through which this can be done is through the act of reflection. Reflection on action as a process first described by Schön in 1983 (Schön, 2005) necessitates not only the critical examination of what we do but also what are the underlying assumptions about why we do what we do. The paper outlines such reflective portfolio submitted as part requirement for Postgraduate Diploma in Teaching and Learning in Higher Education. It examines student midwives learning using the reflective lens of the benchmark course portfolio.

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. We then surveyed 53 patients and 23 referring physicians to determine what the patient understands about FTS, how patients utilize their FTS results, and how physicians educate their patients about FTS. RESULTS: We determined that there was a 19.6% decrease in the uptake of PDT since that statement. Prior to their counseling session (2009-2010), 43% of those surveyed were against having PDT. After counseling, only 9% were against PDT. Overall, 91% were either open to or wanted PDT after counseling. CONCLUSIONS: In addition to FTS results, we found that genetic counseling may be an influential factor in the patient's decision regarding PDT.

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

BACKGROUND: Array Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis. We report our experience with the clinical implementation of this high resolution human genome analysis, referred to as Chromosomal Microarray Analysis (CMA). METHODS AND FINDINGS: CMA was performed clinically on 2513 postnatal samples from patients referred with a variety of clinical phenotypes. The initial 775 samples were studied using CMA array version 4 and the remaining 1738 samples were analyzed with CMA version 5 containing expanded genomic coverage. Overall, CMA identified clinically relevant genomic imbalances in 8.5% of patients: 7.6% using V4 and 8.9% using V5. Among 117 cases referred for additional investigation of a known cytogenetically detectable rearrangement, CMA identified the majority (92.5%) of the genomic imbalances. Importantly, abnormal CMA findings were observed in 5.2% of patients (98/1872) with normal karyotypes/FISH results, and V5, with expanded genomic coverage, enabled a higher detection rate in this category than V4. For cases without cytogenetic results available, 8.0% (42/524) abnormal CMA results were detected; again, V5 demonstrated an increased ability to detect abnormality. Improved diagnostic potential of CMA is illustrated by 90 cases identified with 51 cryptic microdeletions and 39 predicted apparent reciprocal microduplications in 13 specific chromosomal regions associated with 11 known genomic disorders. In addition, CMA identified copy number variations (CNVs) of uncertain significance in 262 probands; however, parental studies usually facilitated clinical interpretation. Of these, 217 were interpreted as familial variants and 11 were determined to be de novo; the remaining 34 await parental studies to resolve the clinical significance. CONCLUSIONS: This large set of clinical results demonstrates the significantly improved sensitivity of CMA for the detection of clinically relevant genomic imbalances and highlights the need for comprehensive genetic counseling to facilitate accurate clinical correlation and interpretation.