The price of whole-genome sequencing is now within the budget of the average American consumer. This has resulted in the commercialization of genome sequencing for a variety of applications, including health-related risk assessment. Direct-to-consumer marketing of personal DNA sequence information uncouples the generation of personal health-related data from the physician-patient relationship. Here, I discuss the status of consumer genomics and the current and potential concerns about bypassing physicians in the analysis and interpretation of personal genomic information and subsequent health care decision-making.
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Cell Genom
December 2024
African Computational Genomics (TACG) Research Group, The MRC Uganda Medical Informatics Centre (UMIC), MRC/UVRI and LSHTM, Entebbe, Uganda; Precision Health University Research Institute, Queen Mary University of London, London, UK.
Achieving diverse representation in biomedical data is critical for healthcare equity. Failure to do so perpetuates health disparities and exacerbates biases that may harm patients with underrepresented ancestral backgrounds. We present a quantitative assessment of representation in datasets used across human genomics, including genome-wide association studies (GWASs), pharmacogenomics, clinical trials, and direct-to-consumer (DTC) genetic testing.
View Article and Find Full Text PDFJ Community Genet
November 2024
Genera/Dasa Genômica, São Paulo, SP, Brazil.
Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside North America and Europe. Therefore, this study assesses the sociodemographic profile, motivations, and impacts of DTC-GT among Brazilian consumers. DTC-GT customers were invited to complete a 30-question online survey anonymously.
View Article and Find Full Text PDFFront Genet
November 2024
Peter O'Donnell Jr. School of Public Health, University of Texas Southwestern Medical Center, Dallas, TX, United States.
Introduction: Awareness, access, and use of clinical and direct-to-consumer (DTC) genetic tests has increased in recent years with documented disparities in these services. We provide updated data on test awareness and use, and report novel data on motivations and methods for accessing genetic tests.
Methods: Nationally representative data from the 2022 Health Information National Trends Survey (HINTS 6) were used to assess awareness and use of ancestry, personal trait, specific disease, and carrier testing by sociodemographic characteristics, examine reasons for undergoing tests, and methods of accessing them.
Commun Med (Lond)
October 2024
UCSF Weill Institute for Neurosciences, Department of Neurology, University of California, San Francisco, CA, USA.
J Am Assoc Nurse Pract
October 2024
Clinical Division, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Nurse practitioners (NPs) are the fastest growing group of health care providers, with an increase of 8.5% over the past year and anticipated growth of more than 40% by 2031. Improving NPs' knowledge of how genes influence health enables them to assess, diagnose, and manage patients in all states of health in a safe, efficient, and competent manner.
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