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. Eleven interviews were conducted and focused on seven categories related to study goals. Using the Framework Method, themes were generated within the predefined categories. Categories and themes included Defining Leadership (Positional vs Non-positional, Beliefs about Leadership, Role of Leadership in the Field of Genetic Counseling), Leadership Curricula Origin and Delivery (Course-based and Longitudinal, Explicit vs. Implicit, Origin of Material), Role of Faculty and Students (Role of Faculty, Expectations for Students and Qualities of Students), Skills, Evaluation, Priority (Potential for Improvement, Barriers and Facilitators), and Standards (Current Incorporation, Potential Incorporation). All programs had some form of leadership development, but many participants lacked a personal or program definition of leadership. Leadership development varied in curricula and delivery, but most were longitudinal and faculty-driven, with communication, teaching, advocacy, and collaboration as commonly taught skills. However, leadership development opportunities were rarely labeled as such, and participants identified labeling current leadership development as the top area for improvement. Labeling leadership development could improve assessment of current efforts and the ability to address gaps in leadership curricula. This would lay the foundation for necessary intentional leadership development, in turn helping us better advocate for our patients and the profession.

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. Our survey data about Plain families' perspectives on genetic testing suggest educational materials are needed for individuals providing informed consent with at-home specimen collection. We therefore developed a Plain population-specific educational trifold brochure about SMA carrier screening by incorporating existing medical education strategies and feedback from Plain community members and their health care providers. Along with the brochure, surveys were included in the kits to assess baseline knowledge about SMA carrier screening ("pre-education") as well as improvement in knowledge after reviewing the brochure and cultural appropriateness of the brochure ("post-education"). Fifty-five testing kits were distributed, and 26 survey pairs (pre- and post-education) were returned and analyzed (response rate 47%). Respondents had high baseline knowledge with an average of 5 of 7 questions (71%) answered correctly on the pre-education survey. Knowledge improved after reviewing the brochure as the average score increased to 6.5 of 7 questions (93%) answered correctly. Questions about risks of having an affected child after positive or negative carrier screening showed the most improvement from the pre-education to post-education surveys. Most respondents indicated the brochure was helpful, was easy to understand, and contained the right amount of information. Overall, incorporating elements of existing medical education strategies with feedback from the target population and stakeholders about appropriate language seems to be an effective method for creating beneficial, culturally responsive educational materials for the Plain population.

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.(Asn641Tyr) substitution, have been identified as a likely autosomal dominant cause of febrile seizures/febrile seizures plus and other monogenic seizure phenotypes indistinguishable from those associated with SCN1A, leading to inclusion of SCN9A on epilepsy gene testing panels. Here we present serendipitous findings of genetic studies that identify the SCN9A c.1921A>T p.(Asn641Tyr) variant at high frequency in the Amish community in the absence of such seizure phenotypes. Together with findings in UK Biobank these data refute an association of SCN9A with epilepsy, which has important clinical diagnostic implications.

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. RESULTS: Eighty individuals were tested; diagnosis was confirmed for three adults with PA and one couple was identified as being at risk for having a child with PA. Genetic counseling was provided to those identified. Follow-up diagnostic testing was completed for the at-risk couple's children; none were found to be affected. CONCLUSION: This initiative successfully provided accessible clinical testing for MSUD and PA for a high-risk population. Early identification of at-risk couples sets the foundation for early care of at-risk neonates, thereby improving future clinical outcomes.Genet Med 19 3, 352-356.

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. Over half (63 %; n = 256/408) of the participants reported that loans were extremely important in their ability to attend their training program, with most using subsidized loans no longer available to current graduate students. While participants were generally satisfied with their genetic counseling education, 83 % (n = 282/342) of participants with student debt reported feeling burdened by their debt, which had a median of $40,000-$50,000. This debt is relatively close to the median starting salary reported by survey participants ($45,000-$50,000), breaching the "20-10 rule" that states student debt should not exceed 20 % of annual net income. In response to this critical issue, we propose recommendations for the genetic counseling field that may help alleviate student debt impact and burden.

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. However, it has been observed that imposing strict medical control over daily dietary habits can lead to destructive attitudes towards eating and body image. This study investigated whether people with PKU are at increased risk of disordered eating behaviors and attitudes. METHODS: Fifteen patients with PKU between the ages of 12 and 35 from the University of Wisconsin (UW) Biochemical Genetics Clinic were surveyed about their metabolic management and eating attitudes and behaviors. RESULTS: While this study was too small to make conclusions of clinical significance, our findings did suggest that patients with poor metabolic control exhibited symptoms of disordered eating at a higher frequency than those with good metabolic control. CONCLUSIONS: There is currently no validated screening tool to evaluate for disordered eating behaviors in individuals with PKU, which makes identifying and treating disordered eating and related conditions difficult. The development of this project emphasized the importance of tailored screening and provider awareness for disordered eating for populations with chronic illnesses.

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. We hypothesize haploinsufficiency of CHD1 to be contributing to the clinical features observed in this family.

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. WNSP formed partnerships with families and health care providers to increase awareness of screening procedures and the intended benefits of screening, modify testing algorithms to enhance detection, and establish medical homes for patients with confirmed disorders. The estimated number of Plain newborns screened increased by 25.5% during the study period, from 547 in 2011 to 736 in 2017; 122 persons underwent carrier testing, and 143 newborns received second-tier testing. From 2014 to 2017, affected patients received 71 metabolic evaluations in their community medical home without travel to major health centers. This article demonstrates how a comprehensive public health program can help increase screening rates, enhance detection, and establish follow-up care in a hard-to-reach religious community. A key lesson learned was the importance of communication among all stakeholders to develop an effective public health program.

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. Genotype and phenotypic data were evaluated to characterize genotype-phenotype correlations. Results can inform the need for confirmatory testing for the disorder and provide a better understanding of the biochemical phenotype, which may help with management.