Results of an American College of Radiology-Society of Interventional Radiology Membership Survey on Exclusive Contracts and the Attitudes of Interventional Radiologists.

Purpose: To assess the attitudes of interventional radiologists (IRs) and diagnostic radiologists (DRs) toward exclusive contracts and independently practicing IRs who may request privileges at a hospital where an exclusive contract exists with a different group of radiologists.

Materials And Methods: A total of 22,400 survey instruments were distributed to 4,490 IRs and 17,910 DRs in the United States. Statistical evaluation included multivariate ordinal logistic regression analysis with calculation of the odds ratios and forest plots.

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.

Background: Clinical use of genotype data requires high positive predictive value (PPV) and thorough understanding of the genotyping platform characteristics. BeadChip arrays, such as the Global Screening Array (GSA), potentially offer a high-throughput, low-cost clinical screen for known variants. We hypothesize that quality assessment and comparison to whole-genome sequence and benchmark data establish the analytical validity of GSA genotyping.

What's in a Name? Report of the ACR Task Force on General Radiology and Multi-Subspecialization.

The ACR Council passed Resolution 47 at its 2020 annual meeting establishing a representative task force (TF) to explore the concept of the "multispecialty radiologist," previously proposed in 2012. The TF held eight virtual meetings over 8 months, considered data from a 2020 ACR Membership Tracking Survey, conducted a review of current literature, and collected anecdotal experience from TF members and ACR leadership. ACR legal counsel and a cross-section of ACR Commissions and Committees also provided input.

Interpretations of Examinations Outside of Radiologists' Fellowship Training: Assessment of Discrepancy Rates Among 5.9 Million Examinations From a National Teleradiology Databank.

In community settings, radiologists commonly function as multispecialty radiologists, interpreting examinations outside of their area of fellowship training. The purpose of this article was to compare discrepancy rates for preliminary interpretations of acute community-setting examinations that are concordant versus discordant with interpreting radiologists' area of fellowship training. This retrospective study used the databank of a U.

Disparities in the Use of Emergency Department Advanced Imaging in Medicare Beneficiaries.

The purpose of our study was to assess potential disparities in the utilization of advanced imaging during emergency department (ED) visits. This retrospective study was conducting using 5% Research Identifiable Files. All CT and MRI (together defined as "advanced imaging") examinations associated with ED visits in 2015 were identified for continuously enrolled Medicare beneficiaries.

Emerging Challenges and Opportunities in the Evolution of Teleradiology.

In recent decades, teleradiology has expanded considerably, and many radiology practices now engage in intraorganizational or extraorganizational teleradiology. In this era of patient primacy, optimizing patient care and care delivery is paramount. This article provides an update on recent changes, current challenges, and future opportunities centered around the ability of teleradiology to improve temporal and geographic imaging access.

Impact of variant reclassification in the clinical setting of cardiovascular genetics.

Genetic testing for cardiovascular disease (CVD) has advanced over the past ten years, but these advancements have posed new challenges in variant classification. To address these challenges, ACMG/AMP published guidelines for variant interpretation in 2015. This study aimed to determine what impact these guidelines have on variant classification in clinical cardiovascular genetics.

White Paper: Corporatization in Radiology.

Consolidation in health care has been widely recognized as having significant impact in the United States. A related trend is the corporatization of medical professional practices by companies in capital markets. Several medical subspecialties have been identified as attractive corporatization candidates, including radiology.

The Current State of Teleradiology Across the United States: A National Survey of Radiologists' Habits, Attitudes, and Perceptions on Teleradiology Practice.

Purpose: To explore the current state of teleradiology practice, defined as the interpretation of imaging examinations at a different facility from where the examination was performed.

Methods: A national survey addressing radiologists' habits, attitudes, and perceptions regarding teleradiology was distributed by e-mail to a random sample of ACR members in early 2019.

Results: Among 731 of 936 respondents who indicated a non-teleradiologist primary work setting, 85.

Emergency Radiology: Current Challenges and Preparing for Continued Growth.

The escalation of imaging volumes in the emergency department and intensifying demands for rapid radiology results have increased the demand for emergency radiology. The provision of emergency radiology is essential for nearly all radiology practices, from the smallest to the largest. As our radiology specialty responds to the challenge posed by the triple threat of providing 24-7 coverage, high imaging volumes, and rapid turnaround time, various questions regarding emergency radiology have emerged, including its definition and scope, unique operational demands, quality and safety concerns, impact on physician well-being, and future directions.

Understanding Mutation Carriers' Preferences for Communication of Genetic Modifiers of Breast Cancer Risk.

Refined estimates of risk based on genetic risk modifiers could assist mutation carriers in understanding their risk, but it is not clear whether carriers are interested in receiving these estimates or how they might benefit from them. Using qualitative interviews, we investigated female 1 and 2 mutation carriers' (N = 20) reactions to numerical and verbal presentations of breast cancer risk based on risk modifiers and assessed women's preferences regarding visual formats for communicating risk. Our results show carriers are interested in receiving refined risk estimates and suggest the estimates may influence decision-making regarding cancer prevention, depending on the nature of the risk assessment.

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Copy number variations (CNVs) of the CNTN6 gene - a member of the contactin gene superfamily - have been previously proposed to have an association with neurodevelopmental and autism spectrum disorders. However, no functional evidence has been provided to date and phenotypically normal and mildly affected carriers complicate the interpretation of this aberration. In view of conflicting reports on the pathogenicity of CNVs involving CNTN6 and association with different phenotypes, we, independently, evaluated clinical features of nineteen patients with detected CNV of CNTN6 as part of their clinical microarray analysis at Children's Mercy and Nationwide Children's Hospitals for the period of 2008-2015.

Access to Interventional Radiology Services in Small Hospitals and Rural Communities: An ACR Membership Intercommission Survey.

Purpose: To evaluate the status of interventional radiology (IR) staffing, recruitment, and retention in the United States, specifically as they apply to small hospitals and rural communities.

Materials And Methods: A 22-question survey was created by an ACR intercommission workgroup and circulated via e-mail to ACR members who self-identified as a "group practice leader," "general radiologist," "interventional radiologist," or "abdominal radiologist." Contingency tables were constructed, and bivariate analyses were performed to assess overall responses and the distribution of responses among specific groups of respondents.

Unifying the Silos of Subspecialized Radiology: The Essential Role of the General Radiologist.

As radiology becomes increasingly subspecialized, conversations focus on whether the general radiologist is trending toward extinction. Current data indicate that the vast majority of graduating radiology residents now seek fellowship training. Practicing entirely within the narrow confines of one's fellowship subspecialty area, however, is uncommon, with recent data indicating that more than half of all radiologists spend the majority of their work effort as generalists.

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

Purpose: While chromosomal regions of homozygosity (ROH) may implicate genes in known recessive disorders, their correlation to disease pathogenicity remains unclear. ROH around the centromere of the X chromosome (pericentromeric, pROH) is regarded as benign, although this has not been empirically demonstrated.

Methods: We examined microarray results from 122 female individuals harboring ROH bordering the X centromere.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS.

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.

Intrachromosomal triplications are complex chromosomal rearrangements which arise during meiosis or mitosis and lead to a tetrasomic dose of the affected genomic regions. We describe a female patient harboring an intrachromosomal triplication who presented to the Genetics clinic with dysmorphic features, including telecanthus, flat facial profile, and prognathism, short stature, widely spaced nipples, multiple allergy complaints, loose bowel movements, and mild speech delay. Microarray analysis showed a copy number gain of a 22.

Variability in pathogenicity prediction programs: impact on clinical diagnostics.

Current practice by clinical diagnostic laboratories is to utilize online prediction programs to help determine the significance of novel variants in a given gene sequence. However, these programs vary widely in their methods and ability to correctly predict the pathogenicity of a given sequence change. The performance of 17 publicly available pathogenicity prediction programs was assayed using a dataset consisting of 122 credibly pathogenic and benign variants in genes associated with the RASopathy family of disorders and limb-girdle muscular dystrophy.

A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

Limb-girdle muscular dystrophy type 2C (LGMD2C) is considered one of the severe forms of childhood-onset muscular dystrophy. The geographical distribution of founder mutations in the SGCG gene has a prominent effect on the prevalence of LGMD2C in certain populations. The aim of this study was to confirm the hypothesis that the c.

Complex brain malformations associated with chromosome 6q27 gain that includes THBS2, which encodes thrombospondin 2, an astrocyte-derived protein of the extracellular matrix.

This case describes the autopsy findings of a 2-month-old male infant with extensive and severe developmental brain abnormalities, including microcephaly, neocortical neuronal layering abnormalities, leptomeningeal heterotopias, commissural agenesis, and cerebellar and brainstem hypoplasia. Microarray analysis identified a gain in chromosome band 6q27, which includes the entire coding region of THBS2. THSB2 encodes thrombospondin 2 (TSP2), an astrocyte secreted protein of the extracellular matrix that promotes synaptogenesis, neurite outgrowth, and cerebellar granule cell migration.