As genomic sequencing expands into more areas of patient care, an increasing number of patients learn of the variants of uncertain significance (VUSs) that they carry. Understanding the potential psychosocial consequences of the disclosure of a VUS can help inform pre- and post-test counseling discussions. Medical uncertainty in general elicits a variety of responses from patients, particularly in the growing field of medical genetics and genomics. It is important to consider patients' responses to the ambiguous nature of VUSs across different indications and situational contexts. Genetic counselors and other providers ordering genetic testing should be prepared for the possibility of their patients' misinterpretation of such results. Pre-test counseling should include a discussion of the possibility of VUSs and what it would mean for the patient's care and its potential psychosocial impacts. When a VUS is found, post-test counseling should include additional education and a discussion of the variant's implications and medical management recommendations based on the results. These discussions may help temper subjective interpretations, unrealistic views, and decisional regret.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062975 | PMC |
http://dx.doi.org/10.1007/s12687-019-00434-7 | DOI Listing |
Hum Genet
January 2025
Department of Biomedical Sciences, University of Padova, Padova, Italy.
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age.
View Article and Find Full Text PDFHum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Background: Neurodegenerative diseases (NDs), including Alzheimer's disease (AD), Huntington's disease (HD), Multiple Sclerosis (MS), and Parkinson's disease (PD) are characterized by the accumulation of misfolded proteins and progressive loss of neurons. However, whether a neurodegeneration transcriptomic signature exists remains uncertain. Thus, we aimed to explore differentially expressed genes (DEGs) in common to AD, HD, MS, and PD.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Background: Neurodegenerative diseases (NDs), including Alzheimer's disease (AD), Huntington's disease (HD), Multiple Sclerosis (MS), and Parkinson's disease (PD) are characterized by the accumulation of misfolded proteins and progressive loss of neurons. However, whether a neurodegeneration transcriptomic signature exists remains uncertain. Thus, we aimed to explore differentially expressed genes (DEGs) in common to AD, HD, MS, and PD.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, Netherlands.
Background: Data-driven criteria for DNA testing were implemented in routine care of Alzheimer Center Amsterdam. We aimed to explore patients' perspectives and considerations regarding their decision to (not) be tested for a monogenic cause of their disease.
Methods: In this mixed method study, 150 of 519 new patients visiting Alzheimer Center Amsterdam who fulfilled the criteria were offered DNA-diagnostics: 86(57%) accepted, 64(43%) did not.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!