Publications by authors named "FISHLER K"

Objective: Explore the caregiver experience of communicating about differences of sex development (DSD) with their children. Evidence-based guidance regarding how, when, and what information is shared by caregivers is lacking and is needed to inform optimal information sharing strategies for this population.

Methods: Qualitative semi-structured interviews were conducted with 15 caregivers of children with DSD, recruited from 3 multidisciplinary DSD clinics.

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encodes for the Popeye domain-containing protein 2 which has an important role in cardiac pacemaking and conduction, due in part to its cAMP-dependent binding and regulation of TREK-1 potassium channels. Loss of in mice results in sinus pauses and bradycardia and morpholino knockdown of zebrafish results in atrioventricular (AV) block. We identified bi-allelic variants in in 4 families that presented with a phenotypic spectrum consisting of sinus node dysfunction, AV conduction defects and hypertrophic cardiomyopathy.

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Genetic counselors (GCs) practice in critical care settings. Some GCs have full-time inpatient roles, while most GCs who see inpatients do so as needed or on a rotating schedule in addition to seeing patients in an outpatient setting. Few studies have tracked and compared the amount of time it takes GCs to perform tasks in the inpatient and outpatient settings.

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The Accreditation Council for Genetic Counseling's Practice-Based Competencies include research-related skills, which are taught in master's level genetic counseling programs through didactic coursework and completion of mentored research experiences. It is known that research mentors can impact student work environments, create positive perceptions of the research process, and increase students' likelihood of future involvement in research. However, few studies have characterized the experiences of GC students in receiving research mentorship.

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Purpose: To describe variation in genomic medicine services across level IV neonatal intensive care units (NICUs) in the United States and Canada.

Methods: We developed and distributed a novel survey to the 43 level IV NICUs belonging to the Children's Hospitals Neonatal Consortium, requesting a single response per site from a clinician with knowledge of the provision of genomic medicine services.

Results: Overall response rate was 74% (32/43).

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The availability of rapid genome sequencing (rGS) for children in a critical-care setting is increasing. This study explored the perspectives of geneticists and intensivists on optimal collaboration and division of roles when implementing rGS in neonatal and pediatric intensive care units (ICUs). We conducted an explanatory mixed methods study involving a survey embedded within an interview with 13 genetics and intensive care providers.

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Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management.

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Congenital renal cystic dysplasia is a rare disease that occurs in approximately 1 in 4000 children and is often discovered in the antenatal period by ultrasound. It is commonly associated with oligohydramnios in utero and/or renal insufficiency or failure in the postnatal period. Aquaporins are membrane proteins that serve as transport channels in the transfer of water or small solutes across cell membranes.

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Available evidence does not support limiting the use of rapid or ultra-rapid exome or genome sequencing in critically ill neonates to cases of predicted high diagnostic yield. Such testing is best positioned to improve neonatal care when test utilization is conceptualized within the total care of the family with a goal of rapid resolution of the diagnostic odyssey.

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In 2018, the Munroe-Meyer Institute for Genetics & Rehabilitation (MMI) at the University of Nebraska Medical Center (UNMC) in Omaha, NE created a genetic counseling clinic (GCC) to increase access to genetics services and decrease the time spent between a referral and being seen in a general genetics outpatient clinic. In the GCC, genetic counselors led patient encounters and geneticists served as advisors, rather than primary providers. We conducted a chart review of 109 patients seen in the GCC from November 1, 2018, to March 16, 2020, and obtained information regarding patient demographics, indications, and clinical recommendations as a result of the visit.

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The COVID-19 pandemic has altered the delivery of genetics services. In response to the pandemic, our genetics department offered telehealth visits to all outpatients, regardless of their physical proximity to Omaha, Nebraska. Traditionally, our department did not offer telehealth visits to patient's homes or to patients who lived in close proximity to a genetics clinic.

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Article Synopsis
  • * A clinical trial involving 354 infants evaluated the effect of early versus delayed WGS results on clinical management within 60 days, looking at outcomes like changes in treatment and hospitalization duration.
  • * Results showed that infants who received WGS results earlier were twice as likely to have their management changed compared to those receiving results later, indicating the potential benefits of timely genetic testing in acute care settings.
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Conscience clauses are laws that allow healthcare providers to refuse to participate in legal medical services based on moral or ethical objections. Genetic counselors encounter a variety of ethical and moral issues, including counseling about abortions. Currently, three states (Oklahoma, Nebraska, and Virginia) have genetic counseling conscience clause laws that allow genetic counselors to refuse to counsel about abortions.

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Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life, in large part, due to the high prevalence of severe congenital abnormalities that increase mortality and morbidity. However, life-saving and life-prolonging medical interventions are being performed at a higher rate for these infants, resulting in increased rates of survival.

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Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is associated with high mortality rates, estimated to be 75%-95% in the first year of life, as well as significant morbidity in survivors. The low survival is largely due to the high prevalence of severe congenital anomalies in infants with this diagnosis.

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Purpose: Although analyzing germline and tumor samples concurrently provides the best opportunity for differentiating between germline and somatic mutations, tumor-only sequencing is becoming increasingly common in clinical care. The purpose of this study is to assess how a multidisciplinary genomic tumor board (MGTB) evaluated patients' tumor-only sequencing results and made genetics referrals. With limited professional society guidance on how to manage pathogenic mutations identified via tumor-only sequencing, this study contemplates the professional knowledge and skills necessary to have represented on an MGTB to interpret these results in context of potential germline findings.

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Purpose: Racial minority populations are underrepresented in genomics research. This study enrolled African-descended individuals in a sequencing study and reported their characteristics.

Methods: We purposively recruited 467 individuals self-identified as African, African American, or Afro-Caribbean to the ClinSeq study and surveyed them about knowledge, motivations, expectations, and traits.

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In-person education and counseling for all people receiving genetic results is the predominant model of disclosure but is challenged by the growing volume of low-impact results generated by sequencing. Evidence suggests that web-based tools may be as effective as in-person counseling at educating individuals about their low-impact results. However, the effects of counseling have not been assessed.

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Importance: A critical bottleneck in clinical genomics is the mismatch between large volumes of results and the availability of knowledgeable professionals to return them.

Objective: To test whether a web-based platform is noninferior to a genetic counselor for educating patients about their carrier results from exome sequencing.

Design, Setting, And Participants: A randomized noninferiority trial conducted in a longitudinal sequencing cohort at the National Institutes of Health from February 5, 2014, to December 16, 2016, was used to compare the web-based platform with a genetic counselor.

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The rat is an important animal model for human diseases and is widely used in physiology. In this article we present a new strategy for gene discovery based on the production of ESTs from serially subtracted and normalized cDNA libraries, and we describe its application for the development of a comprehensive nonredundant collection of rat ESTs. Our new strategy appears to yield substantially more EST clusters per ESTs sequenced than do previous approaches that did not use serial subtraction.

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Seventy-two adults with phenylketonuria were evaluated to investigate the genotypic relationship to phenotype. Patient data were collected by chart review and medical follow-up as well as current psychological evaluation. Nineteen diagnosed neonatally had remained on a phenylalanine-restricted diet all their lives, whereas 34 who were also diagnosed on newborn screening had discontinued dietary restriction during childhood.

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Forty-three adults with classical phenylketonuria were identified by neonatal screening and treated with a phenylalanine (Phe) restricted diet. Nineteen have remained on dietary treatment with varying levels of blood Phe control and 24 have discontinued the diet at an average age of 7.8 years.

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The Collaborative Study of children treated for phenylketonuria (PKUCS) was conducted to investigate prospectively the effects of dietary restriction of phenylalanine on the growth and development of these children. Patients with classic phenylketonuria were identified by newborn screening and began treatment shortly thereafter. All were given the restricted diet until age 6 years, when half were randomly assigned to continue and half to discontinue dietary therapy.

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Serial assessments of mental status of 30 subjects with Down syndrome mosaicism were compared with those of 30 subjects with trisomy 21 Down syndrome. The samples were matched for age, sex, and parental socioeconomic background. The mean IQ level of the mosaic Down syndrome group was significantly higher than that of the trisomy 21 group.

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