AI Article Synopsis

  • Novel genome sequencing (GS) presents new chances to share results with healthy people, leading to a need for effective genetic counseling methods.
  • A study with 466 participants used a genomic counseling model (GCM) that included a digital platform and webinars, showing that knowledge about genetics improved and decisional conflict (uncertainty in decision-making) decreased after the counseling.
  • Most participants (86%) wanted to learn all GS findings after the counseling, indicating that the GCM effectively informed the general public and helped them feel more confident in decisions about genetic information.

Article Abstract

Purpose: Novel uses of genome sequencing (GS) present an opportunity for return of results to healthy individuals, prompting the need for scalable genetic counseling strategies. We evaluate the effectiveness of a genomic counseling model (GCM) and explore preferences for GS findings in the general population.

Methods: Participants (N = 466) completed GS and our GCM (digital genomics platform and group-based webinar) and indicated results preferences. Surveys were administered before (T0) and after (T1) GCM. Change in knowledge and decisional conflict (DC) were evaluated using paired-sample T and Wilcoxon tests. Factors influencing knowledge and results preferences were evaluated using linear and logistic regression models.

Results: Participants were 56% female, 58% white, and 53% ≥40 years of age. Mean knowledge scores increased (Limitations: 3.73 to 5.63; Benefits: 4.34 to 5.48, P < .0001), and DC decreased (-21.9, P < .0001) at T1 versus T0. Eighty-six percent of participants wished to learn all GS findings at T1 vs 78% at T0 (P < .0001). Older age, negative/mixed attitudes toward genetics and greater DC were associated with change in preferences after intervention.

Conclusion: In a population-based cohort undergoing GS interested in learning GS findings, our GCM increased knowledge and reduced DC, illustrating the GCM's potential effectiveness for GS counseling in the general population.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gim.2024.101272DOI Listing

Publication Analysis

Top Keywords

genomic counseling
8
counseling model
8
model population-based
4
population-based sequencing
4
sequencing pre-post
4
pre-post intervention
4
intervention study
4
study purpose
4
purpose novel
4
novel genome
4

Similar Publications

Genetic counselling in the era of next generation sequencing.

An Pediatr (Engl Ed)

December 2024

Grupo de investigación en enfermedades raras, Laboratorio de (epi)genética molecular, Instituto de Investigación Sanitaria Bioaraba, Hospital Universitario Araba, Vitoria-Gasteiz, Spain. Electronic address:

Advances in next-generation sequencing (NGS) technologies have made the detection of the molecular causes of paediatric diseases increasingly affordable, accessible and rapid. While exome sequencing and genome sequencing were until recently only available for research, they are now used in health care practice. The clinical application of NGS has raised many challenges in genetic counselling for families in terms of the interpretation of test results and incidental findings, as well as technical limitations in the event of inconclusive results.

View Article and Find Full Text PDF

Haplotyping-based preimplantation genetic testing for inherited cardiovascular disease: a multidisciplinary approach.

Mol Genet Genomics

December 2024

Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450052, Henan, China.

Given the high morbidity, mortality, and hereditary risk of cardiovascular diseases (CVDs), their prevention and control have garnered widespread attention and remain central to clinical research. This study aims to assess the feasibility and necessity of haplotyping-based preimplantation genetic testing for the prevention of inherited CVD. A total of 15 preimplantation genetic testing for monogenic defect (PGT-M) cycles were performed in 12 CVD families from January 2016 to July 2022.

View Article and Find Full Text PDF

Next-generation sequencing has substantially transformed the genomic diagnosis of individuals affected by inherited renal disorders. Indeed, accurate and rapid diagnostic for patients with suspected genetic kidney diseases is not only important for prognosis and patient management but also for family counseling. Alport syndrome, a genetic disease primarily affecting the basement membrane, is characterized by hematuria, progressive kidney failure, hearing impairment, as well as ocular abnormalities and stems from mutations in genes encoding type IV collagen.

View Article and Find Full Text PDF

[Genetic analysis of children with nonsyndromic sensorineural hearing loss due to novel mutations/deletions of bialleles].

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi

December 2024

Medical Genetics Center, Gansu Provincial Maternity and Child-care Hospital, Gansu Provincial Central Hospital, Lanzhou730050, China Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou730050, China.

To investigate the clinical and genetic characteristics of nonsyndromic sensorineural hearing loss caused by biallelic variation. A child with hearing impairment who was diagnosed at Gansu Provincial Maternal and Child Health Hospital on May 2022 and was selected as the research object. Peripheral blood of the child and her parents was collected, genomic DNA was extracted.

View Article and Find Full Text PDF

Objective: Of this study was to analyse the correlation of gene polymorphisms with clinical and laboratory data of paediatric patients with B-lineage acute lymphoblastic leukaemia with prognostically unfavourable features.

Methods: A study of 200 children with B-lineage acute lymphoblastic leukaemia (B-ALL) treated with polychemotherapy programmes was conducted. Analysis by sex revealed a statistically insignificant predominance of the group of boys over girls (54%).

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!