Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.

Analysis of exome data from the latest release of the Genome Aggregation Database (gnomAD v.4.1.

Nephrologists' Views on a Workflow for Returning Genetic Results to Research Participants.

Introduction: Returning research-based genetic results (gRoR) to participants in nephrology research can improve care; however, the practice raises implementational questions and no established guidelines for this process currently exist. Nephrologists' views on this issue can inform the process but are understudied.

Methods: We developed a conceptual workflow for gRoR from literature and experience, covering aspects such as which results to return, how, and by whom.

Rethinking Animal Consciousness Research to Prioritize Well-Being.

The authors critique the NY Declaration on Animal Consciousness, which does not denounce continued captivity and invasive research in the pursuit of animal consciousness markers. They argue that such research often increases animal suffering by accepting harmful practices. Instead, they propose a nonanthropocentric, ethical framework aligned with the Belmont Report's principle of beneficence, advocating for noninvasive methods in natural habitats.

NPCC4: Climate change and New York City's flood risk.

This chapter of the New York City Panel on Climate Change 4 (NPCC4) report provides a comprehensive description of the different types of flood hazards (pluvial, fluvial, coastal, groundwater, and compound) facing New York City and provides climatological context that can be utilized, along with climate change projections, to support flood risk management (FRM). Previous NPCC reports documented coastal flood hazards and presented trends in historical and future precipitation and sea level but did not comprehensively assess all the city's flood hazards. Previous NPCC reports also discussed the implications of floods on infrastructure and the city's residents but did not review the impacts of flooding on the city's natural and nature-based systems (NNBSs).

NPCC4: New York City climate risk information 2022-observations and projections.

New York City (NYC) faces many challenges in the coming decades due to climate change and its interactions with social vulnerabilities and uneven urban development patterns and processes. This New York City Panel on Climate Change (NPCC) report contributes to the Panel's mandate to advise the city on climate change and provide timely climate risk information that can inform flexible and equitable adaptation pathways that enhance resilience to climate change. This report presents up-to-date scientific information as well as updated sea level rise projections of record.

Prefrontal-Amygdala Pathways for Object and Social Value Representation.

This special focus article was prepared to honor the memory of our National Institutes of Health colleague, friend, and mentor Leslie G. Ungerleider, who passed away in December 2020, and is based on a presentation given at a symposium held in her honor at the National Institutes of Health in September 2022. In this article, we describe an extension of Leslie Ungerleider's influential work on the object analyzer pathway in which the inferior temporal visual cortex interacts with the amygdala, and then discuss a broader role for the amygdala in stimulus-outcome associative learning in humans and nonhuman primates.

Simulating Z_{2} lattice gauge theory on a quantum computer.

The utility of quantum computers for simulating lattice gauge theories is currently limited by the noisiness of the physical hardware. Various quantum error mitigation strategies exist to reduce the statistical and systematic uncertainties in quantum simulations via improved algorithms and analysis strategies. We perform quantum simulations of Z_{2} gauge theory with matter to study the efficacy and interplay of different error mitigation methods: readout error mitigation, randomized compiling, rescaling, and dynamical decoupling.

A qualitative focus group analysis: Increasing fieldwork capacity in genetic counseling training programs.

Genetic counselors are an integral part of the healthcare system; however, the number of genetic counselors in many parts of the United States is limited, impacting access to comprehensive healthcare for all patients. One solution to addressing this deficit includes modifying genetic counseling training programs to increase student enrollment. Fieldwork capacity, driven by a limited number of rotation sites and supervisors, produces a significant bottleneck to entering the profession.

Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies.

Educational use of clinical simulation is a way for students to immerse themselves within a realistic yet safe and structured environment as they practice clinical skills. It is widely used in healthcare training and evaluation, and there are best practices for design, implementation, debriefing, and assessment. An increasing number of genetic counseling graduate programs use simulation in various ways, ranging from role-plays to working with professional simulated/standardized patient (SP) actors.

The Social Ecology of Caregiving: Applying the Social-Ecological Model across the Life Course.

Family caregivers provide care to people with disabilities, as well as ill and older adults, often with little to no outside assistance from the formal long-term care system. They are the backbone of long-term care, and it is a misconception that the majority of people institutionalize disabled people and older adults in the United States. Youth caregiving is under-examined in the field of public health and is in need of theoretical and practical attention.

Word meaning is complex: Language-related generalization differences in autistic adults.

The current study marries two important observations. First, there is a growing recognition that word meanings need to be flexibly extended in new ways as new contexts arise. Second, as evidenced primarily within the perceptual domain, autistic individuals tend to find generalization more challenging while showing stronger veridical memory in comparison to their neurotypical peers.

Transgender and gender diverse individuals' perspectives on discussions of fetal sex chromosomes in obstetrics care.

In the past decade, prenatal cell-free DNA screening (cfDNA) has become ubiquitous as a screening tool for fetal aneuploidy and sex chromosomes. Healthcare provider (HCP) discussions and public perceptions of sex and gender uniquely impact transgender and gender diverse (TGD) individuals, and existing cfDNA guidelines lack recommendations regarding how to discuss sex and gender prenatally. The aim of this exploratory qualitative study was to examine TGD individuals' opinions regarding fetal sex chromosome disclosure sessions.

Reproductive Genetic Medicine in a Post- World: Will it Make Life Harder for People with Genetic Disease?

Post- abortion restrictions impact access and choice in the context of reproductive genetic medicine, raising serious reproductive justice concerns. The consequences of these restrictions are particularly acute and far-reaching for individuals with genetic conditions and their families.

Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session.

Psychiatric genetic counseling (pGC) has been demonstrated to have meaningful positive outcomes for people with psychiatric conditions and their families. However, it is not widely accessed, and clinical genetics services tend to receive few referrals for these indications. Little research has evaluated psychiatrists' perceptions of and experience with interfacing with pGC.

Alternative Splicing and Nonsense-Mediated Decay of a Zebrafish GABA Receptor Subunit Transcript.

The superfamily of Cys-loop ionotropic neurotransmitter receptors includes those that detect GABA, glutamate, glycine, and acetylcholine. There is ample evidence that many Cys-loop receptor subunit genes include alternatively spliced exons. In this study, we report a novel example of alternative splicing (AS): we show that the 68-bp exon 3 in the zebrafish gene-which codes for the ρ2b GABAR subunit-is an alternative cassette exon.

The patient perspective: The struggles of living with thalassemia as an adult.

Today it has become the norm for individuals diagnosed with severe forms of thalassemia who have access to hypertransfusion regimens, chelation therapy, and annual surveillance to survive well beyond childhood. However, with this improvement in prognosis and subsequent transition to adult care, it has become apparent that most adult healthcare providers, including many adult hematologists and primary care providers, are ill-prepared to care for these patients and the complications that accompany their survival into adulthood. Collaborative efforts are needed to develop comprehensive approaches to contend with the challenges faced by adult patients to ensure they are properly managed and supported.

Script concordance testing in genetic counseling training: A pilot study.

Clinical reasoning is a complex skill that represents a trainee's ability to use their professional knowledge and skills to assess and solve the problems that arise in clinical practice. As an integral tenet of the genetic counseling process, clinical reasoning skills underlie many of the Practice-Based Competencies (2019) across a variety of domains. Despite the long-lasting recognition of the importance of this complex skill in the training of genetic counselors, clinical reasoning has traditionally been difficult to assess in a standardized way in healthcare education.

Commonalities and contrasts: North American program directors' perspectives on genetic counseling education.

There is currently a gap in the literature regarding education by and for genetic counseling (GC) students and genetic counselors. Since little is written about current strategies used in GC graduate programs, we conducted a qualitative semi-structured interview study of North American GC program directors to learn about their educational goals and practices. We recruited 25 program directors from the United States and Canada through the Association of Genetic Counseling Program Directors for interviews using a video conferencing platform.

How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia?

Polygenic risk scores (PRS) are promising for identifying common variant-related inheritance for psychiatric conditions but their integration into clinical practice depends on their clinical utility and psychiatrists' understanding of PRS. Our online survey explored these issues with 276 professionals working in psychiatric genetics (RR: 19%). Overall, participants demonstrated knowledge of how to interpret PRS results.

Coffee and conversation: A genuine dialogue on authentic professional learning between genetic counselor educators.

Lifelong learning is a term frequently referred to in the training and continuing professional development of genetic counselors. It implies the ability to continuously engage in self-motivated reflection to identify knowledge gaps and develop a learning plan to address identified needs or interests. In contrast to this definition, the path to continuing professional development for most genetic counselors involves attendance at conferences; yet much data suggest that other forms of learning are more effective at leading to practice change and improved patient or quality outcomes.

Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation.

Background: Unbalanced translocations can cause developmental delay (DD), intellectual disability (ID), growth problems, dysmorphic features, and congenital anomalies. They may arise de novo or may be inherited from a parent carrying a balanced rearrangement. It is estimated that 1/500 people is a balanced translocation carrier.