Leah Wetherill
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View article: Factors associated with increased burnout in genetic counseling students
Factors associated with increased burnout in genetic counseling students Open
Genetic counseling students face numerous stressors during their graduate program, which can lead to negative outcomes such as burnout. Burnout can negatively impact students' ability to perform well, maintain stamina, and feel competent t…
View article: Factors influencing retention of patient‐facing genetic counselors: Role of generational age and work environment
Factors influencing retention of patient‐facing genetic counselors: Role of generational age and work environment Open
Retention is a challenge that every health organization faces in an evolving and competitive market, including those in hospital settings. Some healthcare professions have identified factors that influence their employees to either stay or…
View article: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management
Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management Open
Innovative treatments have allowed the introduction of conditions such as lysosomal storage disorders (LSDs) to newborn screening (NBS). This study explored the challenges healthcare providers faced with the addition of LSDs to NBS and ide…
View article: Research methods in genetic counseling: Statistical approaches and resources
Research methods in genetic counseling: Statistical approaches and resources Open
The continuing evolution of the genetic counseling profession necessitates an ongoing reflection on the perceived validity and role of our research in the larger systems we operate in. Despite our need for an analytically inclined professi…
View article: An exploration of delegation practices regarding the utilization of genetic counseling assistants for disclosure of genetic testing results
An exploration of delegation practices regarding the utilization of genetic counseling assistants for disclosure of genetic testing results Open
Genetic counselors (GCs) play a crucial role in the healthcare system, providing education, support and guidance regarding genetic risk assessment, testing and results interpretation. To help GCs practice at the highest level of their expe…
View article: Mutations in the bone morphogenetic protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations
Mutations in the bone morphogenetic protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations Open
Fetal alcohol spectrum disorders (FASD) describe ethanol-induced developmental defects including craniofacial malformations. While ethanol-sensitive genetic mutations contribute to facial malformations, the impacted cellular mechanisms rem…
View article: Clinical, Genomic, and Neurophysiological Correlates of Lifetime Suicide Attempts among Individuals with an Alcohol Use Disorder
Clinical, Genomic, and Neurophysiological Correlates of Lifetime Suicide Attempts among Individuals with an Alcohol Use Disorder Open
Introduction: Research has identified multiple risk factors associated with suicide attempt (SA) among individuals with psychiatric illness. However, there is limited research among those with an alcohol use disorder (AUD), despite their d…
View article: Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits
Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits Open
Genetic research on nicotine dependence has utilized multiple assessments that are in weak agreement. We conducted a genome-wide association study of nicotine dependence defined using the Diagnostic and Statistical Manual of Mental Disorde…
View article: Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits
Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits Open
Background Genetic research on nicotine dependence has utilized multiple assessments that are in weak agreement. Methods We conducted a genome-wide association study (GWAS) of nicotine dependence defined using the Diagnostic and Statistica…
View article: Author Correction: Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction
Author Correction: Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction Open
View article: Exploring genetic counselors' interest and role in transitional care discussions for pediatric patients with neurodevelopmental conditions
Exploring genetic counselors' interest and role in transitional care discussions for pediatric patients with neurodevelopmental conditions Open
Previous studies have examined the perspectives of healthcare providers regarding their role in the transition process of pediatric patients with neurodevelopmental conditions (NDCs), but the perspective of a genetic counselor has yet to b…
View article: Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing
Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing Open
Background Dysmorphology evaluation is important for congenital heart disease (CHD) assessment, but there are no prior investigations quantifying the screening performance compared to standardized genetics evaluations. We investigated this…
View article: Patient perceptions of genetic counselors' role and emotional support needs in adults with Parkinson's disease
Patient perceptions of genetic counselors' role and emotional support needs in adults with Parkinson's disease Open
One of the roles of a genetic counselor, when returning genetic test results for Parkinson's disease (PD), is to provide emotional support to the patient. However, whether or not these needs are being met in the genetic counseling setting …
View article: Reduction of APOE accounts for neurobehavioral deficits in fetal alcohol spectrum disorders
Reduction of APOE accounts for neurobehavioral deficits in fetal alcohol spectrum disorders Open
View article: Factors Influencing Patient Disclosure of Parkinson's Disease Genetic Testing Results to Relatives
Factors Influencing Patient Disclosure of Parkinson's Disease Genetic Testing Results to Relatives Open
Background Persons with Parkinson's disease (PD) who have received genetic test results are faced with the decision of whether, and how, to share that information with family. Studies in other specialties have shown high rates of disclosur…
View article: The majority of parents of children undergoing genetic testing report preference for earlier genetic counseling appointments
The majority of parents of children undergoing genetic testing report preference for earlier genetic counseling appointments Open
In the Indiana University Health (IUH) Medical Genetics clinic, certified genetic counselors disclose genetic test results to patients by telephone. The wait‐time between a result call‐out and a follow‐up appointment can vary from weeks to…
View article: Clinical, genomic, and neurophysiological correlates of lifetime suicide attempts among individuals with alcohol dependence
Clinical, genomic, and neurophysiological correlates of lifetime suicide attempts among individuals with alcohol dependence Open
Research has identified clinical, genomic, and neurophysiological markers associated with suicide attempts (SA) among individuals with psychiatric illness. However, there is limited research among those with an alcohol use disorder (AUD), …
View article: Associations between alcohol use disorder polygenic score and remission in participants from high‐risk families and the Indiana Biobank
Associations between alcohol use disorder polygenic score and remission in participants from high‐risk families and the Indiana Biobank Open
Background In the United States, ~50% of individuals who meet criteria for alcohol use disorder (AUD) during their lifetimes do not remit. We previously reported that a polygenic score for AUD (PGS AUD ) was positively associated with AUD …
View article: Polymorphisms in the choline transporter SLC44A1 are associated with reduced cognitive performance in normotypic but not prenatal alcohol-exposed children
Polymorphisms in the choline transporter SLC44A1 are associated with reduced cognitive performance in normotypic but not prenatal alcohol-exposed children Open
View article: Diagnostic Criteria for Identifying Individuals at High Risk of Progression From Mild or Moderate to Severe Alcohol Use Disorder
Diagnostic Criteria for Identifying Individuals at High Risk of Progression From Mild or Moderate to Severe Alcohol Use Disorder Open
Importance Current Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) ( DSM-5 ) diagnoses of substance use disorders rely on criterion count–based approaches, disregarding severity grading indexed by individual criteria.…
View article: Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health
Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health Open
View article: Readiness for Parkinson’s disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic
Readiness for Parkinson’s disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic Open
Genetic testing for Parkinson’s disease (PD) is increasing globally, and genetic counseling is an important service that provides information and promotes understanding about PD genetics and genetic testing. PD research studies have initia…
View article: Mutations in the Bone Morphogenetic Protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations
Mutations in the Bone Morphogenetic Protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations Open
Fetal Alcohol Spectrum Disorders (FASD) describe ethanol-induced developmental defects including craniofacial malformations. While ethanol-sensitive genetic mutations contribute to facial malformations, the impacted cellular mechanisms rem…
View article: The collaborative study on the genetics of alcoholism: Genetics
The collaborative study on the genetics of alcoholism: Genetics Open
This review describes the genetic approaches and results from the family‐based Collaborative Study on the Genetics of Alcoholism (COGA). COGA was designed during the linkage era to identify genes affecting the risk for alcohol use disorder…
View article: Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease Open
To date, almost 600 genes have been associated with ocular genetic diseases. As these discoveries are made, clinical genetic testing continues to grow and become a more common element in the diagnostic workup of children with blindness and…
View article: Clinical, genomic, and neurophysiological correlates of lifetime suicide attempts among individuals with an alcohol use disorder
Clinical, genomic, and neurophysiological correlates of lifetime suicide attempts among individuals with an alcohol use disorder Open
Research has identified clinical, genomic, and neurophysiological markers associated with suicide attempts (SA) among individuals with psychiatric illness. However, there is limited research among those with an alcohol use disorder (AUD), …
View article: Mode of delivery preference in prenatal genetic counseling between English‐ and <scp>Spanish‐speaking</scp> patients at two <scp>US</scp> medical institutions
Mode of delivery preference in prenatal genetic counseling between English‐ and <span>Spanish‐speaking</span> patients at two <span>US</span> medical institutions Open
Although Hispanic individuals are at an increased risk for various genetic conditions, they have lower uptake of genetic counseling and genetic testing. Virtual appointments have many advantages that may help Spanish‐speaking patients acce…
View article: Genetic counseling program remediation practices for students underperforming in clinical skills: An exploratory study
Genetic counseling program remediation practices for students underperforming in clinical skills: An exploratory study Open
Program‐level clinical remediation in genetic counseling training programs aims to help students who are underperforming gain clinical skills to successfully manage clinical counseling sessions with patients. Student remediation often requ…
View article: Readiness for Parkinson's Disease Genetic Testing and Counseling in Patients and Their Relatives in the Dominican Republic
Readiness for Parkinson's Disease Genetic Testing and Counseling in Patients and Their Relatives in the Dominican Republic Open
Genetic testing for Parkinson’s disease (PD) is increasing globally, and genetic counselors serve as a resource to provide information about PD and genetic testing. However, genetic counseling is not yet recognized as an independent profes…
View article: Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease Open
To date, almost 600 genes have been associated with ocular genetic diseases. As these discoveries are made, clinical genetic testing continues to grow and become a more common element in the diagnostic workup of children with blindness and…