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Exploring autism spectrum disorder and co-occurring trait associations to elucidate multivariate genetic mechanisms and insights.
BMC Psychiatry
December 2024
Faculty of Medicine and Health Technology, Tampere University and Tays Cancer Centre, Tampere, Finland.
Background: Autism spectrum disorder (ASD) is a partially heritable neurodevelopmental trait, and people with ASD may also have other co-occurring trait such as ADHD, anxiety disorders, depression, mental health issues, learning difficulty, physical health traits and communication challenges. The concomitant development of ASD and other neurological traits is assumed to result from a complex interplay between genetics and the environment. However, only a limited number of studies have performed multivariate genome-wide association studies (GWAS) for ASD.
View Article and Find Full Text PDF"Protection for the public, better use of resources and clearer lines": Interviews with genetic counselors and their colleagues on the need for regulation in Quebec.
J Genet Couns
August 2024
Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada.
In Canada, the field of genetic counseling is rapidly evolving alongside the increasing integration of and demand for genetics in healthcare practice. In tandem, there is a growing body of literature advocating for the regulation of genetic counseling, as legal recognition can protect patients from potential risk of harm and provide counselors with support by legally defining their roles and duties. However, there is a need for empirical qualitative research regarding the risks and challenges associated with the current lack of regulation to help inform these discussions.
View Article and Find Full Text PDFReviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments.
Int J Legal Med
November 2024
Section of Legal Medicine of Milan, University of Milan, Via Luigi Mangiagalli 37, 20133, Milan, Italy.
Hereditary connective tissue disorders (HCTDs) are a heterogeneous group of inherited diseases. These disorders show genetic mutations with loss of function of primary components of connective tissue, such as collagen and elastic fibers. There are more than 200 conditions that involve hereditary connective tissue disorders, while the most known are Marfan syndrome, Osteogenesis Imperfecta, and Ehlers-Danlos syndromes.
View Article and Find Full Text PDFGenetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada.
J Genet Couns
July 2024
McGill Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Advances in medical genetics have led to a significant increase in demand for genetic services and expertise across almost all medical specialties. Genetic counselors (GCs) in Canada play key roles in genetic services both within and outside of the Genetics Clinic, while not being regulated or legally recognized as healthcare professionals (HCPs) in most provinces. Understanding whether GCs outside of the "traditional" Genetics Clinic influence patient care, their level of professional autonomy and supervisory structure is, therefore, important.
View Article and Find Full Text PDFDoes an App a Day Keep the Doctor Away? AI Symptom Checker Applications, Entrenched Bias, and Professional Responsibility.
J Med Internet Res
June 2024
Centre of Genomics and Policy, McGill University, Montreal, QC, Canada.
The growing prominence of artificial intelligence (AI) in mobile health (mHealth) has given rise to a distinct subset of apps that provide users with diagnostic information using their inputted health status and symptom information-AI-powered symptom checker apps (AISympCheck). While these apps may potentially increase access to health care, they raise consequential ethical and legal questions. This paper will highlight notable concerns with AI usage in the health care system, further entrenchment of preexisting biases in the health care system and issues with professional accountability.
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