Publications by authors named "Michael R Setzer"

Understanding the prevalence of mental health concerns, rates of treatment access, and barriers to care can help identify strategies for improving mental health support and access. In a sample of U.S.

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Despite neurobiological overlap, alcohol use disorder (AUD) and body mass index (BMI) show minimal genetic correlation (r), possibly due to mixed directions of shared variants. Here we applied MiXeR to investigate shared genetic architecture between AUD and BMI, conjunctional false discovery rate to detect shared loci and their directional effect, local analysis of (co)variant association for local r, functional mapping and annotation to identify lead single-nucleotide polymorphisms, Genotype-Tissue Expression (GTEx) to examine tissue enrichment and BrainXcan to assess associations with brain phenotypes. MiXeR indicated 82.

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Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, autoimmunity, inflammation, and risk of malignancy. Adaptation is the process of incorporating stressful experiences into one's life; these experiences may include onset of illness, receiving a diagnosis, or suffering without a diagnosis. Poor adaptation is linked to adverse outcomes including psychiatric comorbidities and decreased well-being.

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N-acetylcysteine (NAC) may serve as a novel pharmacotherapy for substance use and substance craving in individuals with substance use disorders (SUDs), possibly through its potential to regulate glutamate. Though prior meta-analyses generally support NAC's efficacy in reducing symptoms of craving, individual trials have found mixed results. The aims of this updated meta-analysis were to (1) examine the efficacy of NAC in treating symptoms of craving in individuals with SUD and (2) explore subgroup differences, risk of bias and publication bias across trials.

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N-acetylcysteine (NAC) may serve as a novel pharmacotherapy for substance use and substance craving in individuals with substance use disorders (SUDs), possibly through its potential to regulate glutamate. Though prior meta-analyses generally support NAC's efficacy in reducing symptoms of craving, individual trials have found mixed results. The aims of the this updated meta-analysis were to (1) examine the efficacy of NAC in treating symptoms of craving in individuals with a SUD and (2) explore subgroup differences, risk of bias, and publication bias across trials.

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Despite neurobiological overlap, alcohol use disorder (AUD) and body mass index (BMI) show minimal genetic correlation (r), possibly due to mixed directions of shared variants. We applied MiXeR to investigate shared genetic architecture between AUD and BMI, conjunctional false discovery rate (conjFDR) to detect shared loci and their directional effect, Local Analysis of (co)Variant Association (LAVA) for local r, Functional Mapping and Annotation (FUMA) to identify lead single nucleotide polymorphisms (SNPs), Genotype-Tissue Expression (GTEx) to examine tissue enrichment, and BrainXcan to assess associations with brain phenotypes. MiXeR indicated 82.

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The majority of genomic sequencing and microarray results are clinically uninformative, meaning that they do not suggest a need for any behavioral action or medical intervention. Prior studies have shown that recipients of uninformative genomic testing results ("uninformative results" hereafter) may incorrectly interpret them to imply a lowered risk of disease or false reassurance about future health risks. Few studies have examined how patients understand uninformative results when they are returned in a research setting, where there is wide variation in analytical specifications of testing, interpretation and reporting practices, and resources to support the return of results.

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Article Synopsis
  • Researchers studied how certain genetic changes, called copy number variants (CNVs), affect immune system problems in kids.
  • They tested 332 children and found that many could be diagnosed using two types of genetic tests: exome sequencing (ES) and chromosomal microarray analysis (CMA).
  • Combining both tests helped doctors understand complicated cases better and sometimes find more than one issue causing the health problems.
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Article Synopsis
  • This study focused on a holistic genetic evaluation of patients with immune-related issues, recognizing that multiple genetic factors might contribute to their health conditions rather than just a single gene explanation.
  • Researchers analyzed genetic data from 1505 individuals, uncovering 361 molecular diagnoses linked to various immune presentations, with significant updates obtained through reanalysis and new gene discoveries.
  • The findings indicate that the majority of molecular diagnoses could inform treatment options, highlighting the potential for whole exome analysis to enhance our understanding of genetic contributions to health on a large scale.
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The most appropriate strategies for managing secondary genomic findings (SF) in clinical research are being developed and evaluated. We surveyed patients at the National Institute of Allergy and Infectious Diseases (NIAID) to evaluate decisional conflict regarding enrolling in a study that returns SF. Responses were collected using a cross-sectional survey after informed consent but before return of SF.

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We conducted a test of concept study to explore feasibility, face validity, and sensitivity of an interactive web-based video tool designed to assess communication practices of genetic counselors in response to standardized video prompts. A convenience sample of genetic counselors was recruited from the National Society of Genetic Counselors to respond verbally to a set of brief standardized video prompts from a virtual client in a prenatal genetic counseling session and a cancer genetic counseling session, embedded in an interactive online platform. Participant verbal responses to prompts were captured through a secure voicemail service.

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