Fraud in genetic testing: Swindling the system.

Purpose: Health care fraud comprises a sizable portion of United States health care expenditure and inflicts undue burden on payors, patients, and the health care system overall. The genetic testing industry is rapidly growing, which propagates opportunities for health care fraud. Although federal organizations have highlighted it as an issue, there is limited research exploring genetic testing fraud.

Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.

Introduction: Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition associated with (Spalt like Transcription Factor 1), is reported to be present in 1:238,000 individuals in the general population. TBS is characterized by the triad of anorectal malformations, dysplastic ears, with or without hearing impairment, and hand or thumb anomalies. Although kidney involvement is less common in TBS, the disease can progress to kidney failure.

Genetic Counseling in Kidney Disease: A Perspective.

As genetic testing is increasingly integrated into nephrology practice there is a growing need for partnership with genetic experts. Genetic counselors are ideally suited to fill this role. The value of genetic counseling is born out of the clinical value of genetic test results against the backdrop of the complexity of genetic testing.

Isolated benign persistent proteinuria with novel association of (cubilin) variants.

We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the gene. The -related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of status may allow for avoidance of invasive testing.

The State of Newborn Screening in South Dakota.

South Dakota's Newborn Screening (NBS) program has been in existence for nearly 50 years. What began as a screen for a single condition has now expanded to more than 50 conditions. From 2005-2019 alone, 315 infants were confirmed as positive for a condition detected by the newborn screen in South Dakota.

Dual diagnosis of autosomal dominant polycystic kidney disease and sickle cell disease in a teenage male.

Background: Sickle cell disease (SCD) and autosomal dominant polycystic kidney disease (ADPKD) are relatively common genetic conditions with considerable overlap in clinical presentation. In addition to similarities between the signs and symptoms in sickle cell nephropathy and ADPKD, more than half of SCD patients have kidney cysts. The co-occurrence of these two diseases has not been previously reported in the literature.

Genesurance counseling: Current training practices of genetic counseling graduate programs in the United States.

In recent years, it has become apparent that patients expect genetic counselors to be able to address questions about insurance coverage for genetic testing and perform 'genesurance' tasks in and out of genetic counseling sessions. Anecdotally, many genetic counseling graduate programs have begun to incorporate genesurance training in some capacity. However, the amount, modality, and potential barriers to this training had not been previously studied; therefore, this study aimed to elucidate current graduate program practice regarding genesurance.

Geographical analysis of the distribution of certified genetic counselors in the United States.

The number of certified genetic counselors (CGCs) in the genetic counseling workforce has increased over the past few decades as the number of training programs increases and CGCs expand into new patient-facing and non-patient-facing roles. Few studies have explored the distribution of CGCs across the United States. We sought to identify the U.

Genetic Counseling in Middle School Science Club: A Pilot Study.

Compared to demographic data from other healthcare professions, genetic counselors (GCs) are more likely to be Caucasian females. Many current underrepresented in genetic counseling (URGC) professionals in the field found genetic counseling later in their careers due in part to their lack of awareness. A pilot study consisting of equal numbers of male and female sixth grade science club students was conducted to explore the impact that direct teaching might have on students' awareness of and interest in genetic counseling.

Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.

Genetic counseling careers continue to evolve, yet there remains a lack of information about hiring trends in the genetic counseling profession. In this study, job advertisements in the United States and Canada were analyzed, using the National Society of Genetic Counselors (NSGC) Job Connections and the American Board of Genetic Counseling (ABGC) eBlasts from 2014 to 2016 to appraise job roles, qualifications, settings, specialties, and type. NSGC had 1875 advertised openings from 2014 to 2016, while ABGC had 373 advertised openings.

Genetic Counseling in Pediatrics.

Genetic counseling is a communication process whereby an individual or family obtains information about a genetic condition, is helped to understand the implications and significance of the condition, and is given resources to help with coping and management. It is a continuous process involving lasting supportive relationships between the family and the genetic professional. Genetic counselors are master's level-trained health-care professionals who work closely with pediatricians and pediatric subspecialists alike.

Genesurance Counseling: Patient Perspectives.

Genetic counselors (GCs) have reported an increase in discussion of insurance-related, or "genesurance," topics during genetic counseling sessions. Despite increasing frequency, there have been no studies examining patient expectations of GCs in these discussions. This study aimed to explore patient expectations of GCs in these discussions, as well as examine factors that may impact expectations.

Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics.

While traditional components of genetic counseling sessions are well recognized, less is known about insurance and financial discussions. This study sought to examine "genesurance counseling" which we defined as: that portion of a genetic counseling session, whether intentional or non-intentional, that is devoted to the topic of costs and insurance/third party coverage (particularly for genetic testing). Our objective was to assess genetic counselors' practices and perspective related to genesurance counseling.

Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.

Uniparental disomy (UPD), where two copies of genetic material are from one parent, and none from the other, is a familiar cause of imprinting. We present a premature infant with organomegaly and congenital hyperinsulinism found to have complete UPD of paternal origin as determined by Mendelian inheritance error analysis.

Experiences of Genetic Counselors Practicing in Rural Areas.

In-person genetic counseling clinics in rural areas are likely to improve access to genetic counseling in underserved regions, but studies have not previously examined how these clinics function or described the experience of practicing in a rural setting. The present mixed-methods study explored the professional experiences of clinical genetic counselors who practice in rural areas, including the benefits and challenges of practicing in these settings and the counselors' motivations for doing so. The authors surveyed 20 genetic counselors who self-reported working in rural areas and conducted interviews with six individuals whose workplaces were confirmed as rural per RUCA code.

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).

The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population.

Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

The SATB2-associated syndrome (SAS) was recently proposed as a clinically recognizable syndrome that results from deleterious alterations of the SATB2 gene in humans. Although interstitial deletions at 2q33 encompassing SATB2, either alone or contiguously with other genes, have been reported before, there is limited literature regarding intragenic mutations of this gene and the resulting phenotype. We describe five patients in whom whole exome sequencing identified five unique de novo mutations in the SATB2 gene (one splice site, one frameshift, and three nonsense mutations).

Identification of a founder mutation for maple syrup urine disease in Hutterites.

Maple syrup urine disease (MSUD) is an organic acidemia detected on newborn screening. The condition has been reported with increased frequency in certain founder populations including Hutterites. We present a case of MSUD in a Hutterite boy.

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Progressive microcephaly is a heterogeneous condition with causes including mutations in genes encoding regulators of neuronal survival. Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres. Whole-exome sequencing of individuals from each family independently identified compound-heterozygous mutations in QARS as the only candidate causative variants.

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X-linked inheritance.