Genetic counseling program remediation practices for students underperforming in clinical skills: An exploratory study.

Program-level clinical remediation in genetic counseling training programs aims to help students who are underperforming gain clinical skills to successfully manage clinical counseling sessions with patients. Student remediation often requires intervention, including discussions with program leadership and/or a formal remediation plan through the program. This study surveyed genetic counseling program leaders to explore the remediation landscape by identifying skills in which students underperformed, program remediation activities to improve skills, and remediation outcomes.

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor.

Most people with cystic fibrosis (CF) are diagnosed following abnormal newborn screening (NBS), which begins with measurement of immunoreactive trypsinogen (IRT) values. A case report found low concentrations of IRT in an infant with CF exposed to the CF transmembrane conductance regulator (CFTR) modulator, elexacaftor-tezacaftor-ivacaftor (ETI), in utero. However, IRT values in infants born to mothers taking ETI have not been systematically assessed.

Factors that influence genetic counselors' participation in research.

Genetic counselors have skills and expertise in genetics and patient care that make them an asset to research and research teams. However, the National Society of Genetic Counselors (NSGC) found in 2020 that more than half of practicing genetic counselors do not participate in research activities. Information describing factors that influence their research participation is lacking in the literature.

An investigation of preceptors' perceptions of behavioral elements of "professionalism" among genetic counseling students.

Professionalism in health care is a loosely defined but increasingly studied concept. In genetic counseling, "professional development" expectations for entry-level genetic counselors are described in the "Practice-Based Competencies for Genetic Counselors," but the teaching and evaluation of "professionalism" among genetic counseling students is relatively unexplored. This study investigated program leaders' and clinical supervisors' perceptions of professionalism demonstrated by genetic counseling graduate students to learn about their associated strengths and lapses.

Diversity training experiences and factors associated with implicit racial bias among recent genetic counselor graduates of accredited programs in the United States and Canada.

Implicit racial bias in healthcare settings can impact delivery of patient care. Exploration of this bias is necessary to improve patient experiences. We sought to understand implicit racial bias among graduates of accredited genetic counseling programs in the United States and Canada in the class of 2020 as they enter the genetics workforce and assess how this bias is associated with training and life experiences.

Outcomes of repeat sweat testing in cystic fibrosis newborn screen positive infants.

Background: Infants with a positive cystic fibrosis (CF) newborn screen, only one identified CFTR mutation (NBS+/1 mut), and an initial intermediate sweat chloride (30-59 mmol/L) should have repeat sweat chloride testing (SCT). However, the outcome of repeat SCT and the relationship between initial sweat Cl and subsequent CF diagnosis have not been reported.

Objective: The objective of this study was to analyze the outcomes of repeat SCT and subsequent CF diagnosis in NBS+/1 mut infants based on their initial sweat chloride concentration.

Positive and negative professionalism experiences of genetic counseling students in the United States and Canada.

Many aspects of genetic counseling training programs have been examined over the years. However, no study has explored professional or unprofessional behaviors genetic counseling graduate students experience during their training, and how these behaviors influence satisfaction with their training. This exploratory study examined students' experiences with program leaders, instructors, supervisors, and other trainees.

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

Importance: Identifying measures that are associated with the cytosine-adenine-guanine (CAG) expansion in individuals before diagnosis of Huntington disease (HD) has implications for designing clinical trials.

Objective: To identify the earliest features associated with the motor diagnosis of HD in the Prospective Huntington at Risk Observational Study (PHAROS).

Design, Setting, And Participants: A prospective, multicenter, longitudinal cohort study was conducted at 43 US and Canadian Huntington Study Group research sites from July 9, 1999, through December 17, 2009.

Kousseff syndrome caused by deletion of chromosome 22q11-13.

Kousseff syndrome was originally described by Boris Kousseff in 1984: Pediatrics 74:395-398 in three siblings whose main features were conotruncal heart defects, neural tube defects, and dysmorphic features. The proband is a white male who has spina bifida, shunted hydrocephalus, cleft palate, short stature, cognitive impairment, and the typical craniofacial features of velo-cardio-facial syndrome (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia. The family history is significant for a brother who died at 2 weeks of age with myelomeningocele, hydrocephalus, transposition of the great vessels, and unilateral renal agenesis, and a sister who died at 11 days of age with myelomeningocele, truncus arteriosus, hypocalcemia, and autopsy findings of absent thymus and parathyroid glands, consistent with DiGeorge anomaly.