Spanish language opportunities in genetic counseling training programs in the United States.

This cross-sectional survey study explores ongoing initiatives to foster diversity and inclusivity within the field of genetic counseling, specifically focusing on opportunities within graduate programs for students to enhance language and counseling skills in Spanish, thereby fostering language concordance in genetic counseling settings. With a response rate of 44.8% (26/58) across genetic counseling graduate programs, our study provides an overview of educational offerings in Spanish, encompassing patient-facing, non-patient-facing, and combined opportunities.

Leadership development in genetic counseling graduate programs.

Leadership is emerging as an important component of health professional training. This study aimed to characterize current leadership development in accredited genetic counseling programs. Semi-structured interviews with program leadership were conducted to explore their program's leadership curricula and their perspectives on the meaning of leadership and its place in genetic counseling training.

Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.

Spinal muscular atrophy (SMA) has been reported in both Amish and Mennonite (Plain) communities, and a higher incidence has been observed in certain Mennonite communities compared to the general population. There are several therapies for SMA, but all are most effective in pre-symptomatic newborns. To identify couples from the Wisconsin Plain community who are most likely to have a child with SMA, carrier screening is offered via mailed kits with at-home specimen collection.

No association between SCN9A and monogenic human epilepsy disorders.

Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.

A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.

Introduction: Phenylalanine hydroxylase deficiency, commonly known as phenylketonuria (PKU), is an inborn error of metabolism that manifests in severe neurological damage when left untreated. Routine newborn screening has made early identification and treatment of affected individuals possible, changing the prognosis of PKU from devastating to excellent. The most effective treatment for PKU involves lifelong dietary restriction of protein, nutrition supplementation via medical foods, and frequent monitoring of amino acid levels in the blood.

Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.

The Plain community is the fastest-growing religious minority in Wisconsin. This community has a high incidence of genetic disorders, many of which are identifiable through newborn screening. We describe efforts by the Wisconsin Newborn Screening Program (WNSP) to improve health care in the Plain community by targeting early identification of, and intervention for, patients with inherited metabolic disorders.

Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.

We report a two-generation family with four females harboring an 8.5Mb heterozygous deletion of 5q15-q21.2 who present with dysmorphic craniofacial features and speech delay.

Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.

In the Plain Community, there is an increased frequency of genetic disorders including phenylalanine hydroxylase (PAH) deficiency. Common pathogenic variants have been observed due to founder effect and closed community. This study obtained genotypes of 12 Plain individuals with PAH deficiency, identified through newborn screen or diagnosed by symptomatic presentation, who are receiving medical care at the University of Wisconsin metabolic clinic.

Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.

Purpose: This community project is an initiative through the University of Wisconsin Biochemical Genetics Clinic and the Wisconsin Newborn Screening Program to identify members of the Plain population who are at risk for having children with maple syrup urine disease (MSUD) or propionic acidemia (PA) or who have PA.

Methods: Because of the high prevalence of metabolic conditions in the Plain population and the importance of early intervention, a statewide outreach project was developed to provide targeted variant analysis of the common MSUD and PA pathogenic variants in this population through health-care provider distribution of blood spot testing kits. Awareness was achieved through outreach efforts with the state midwives guild and Plain population meetings.

Genetic counseling graduate student debt: impact on program, career and life choices.

The cost of education is rising, increasing student financial aid and debt for students pursuing higher education. A few studies have assessed the impact of student debt in medicine, physical therapy and social work, but little is known about the impact of student debt on genetic counseling students and graduates. To address this gap in knowledge, a web-based study of 408 recent alumni of genetic counseling programs in North America was conducted to assess the impact of student debt on program, career and life choices.