The ClinGen Sequence Variant Interpretation Working Group has published recommendations on how to evaluate splicing variant data, offering standardized guidance on evidence codes and functional data application. Genetic variant interpretation plays a pivotal role in clinical decision-making, and these recommendations provide a framework for improving the assessment of splicing variants. Read more about this under Article 1 below.
Contents
- Article 1: Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
- Article 2: The clinical utility of rapid exome sequencing in a consanguineous population
- Article 3: Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
- Article 4: Aging Fly Cell Atlas identifies exhaustive aging features at cellular resolution
- References
The ClinGen Sequence Variant Interpretation Working Group has published recommendations in the American Journal of Human Genetics on how to evaluate splicing variant data, providing standardized guidance on applying evidence codes to splicing predictions and functional data to improve the classification of genetic variants and ensure consistency among variant curation expert panels. Read the full article here.
In summary: Recommendations for evaluating splicing variant data
Article 2: The clinical utility of rapid exome sequencing in a consanguineous population
A recent study in Genome Medicine found that rapid exome sequencing is highly valuable for diagnosing genetic conditions in closely related populations. Researchers examined its usefulness in a consanguineous population with a higher likelihood of rare genetic variants. They discovered pathogenic or likely pathogenic variants in 42% of the cases studied, impacting treatment decisions, prognosis, and reproductive counseling. Reproductive counseling was particularly important due to the prevalence of autosomal recessive variants. The study demonstrates that rapid exome sequencing is a valuable tool for diagnosing genetic conditions in closely related populations, similar to its effectiveness in more diverse populations. Read the full article here.
In summary: High clinical utility of rapid exome sequencing in closely related populations
Article 3: Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
A study published in the European Journal of Human Genetics examined the perspectives of genetic counselors and medical geneticists on the educational aspects of informed consent in genetic testing. The researchers presented various clinical scenarios to genetics professionals and asked them to assess if the scenarios met the minimum educational requirements for informed consent. Based on responses from 238 participants, the study found that at least 65% of the experts agreed that sufficient information was provided in most scenarios. However, there was slightly lower agreement (58%) in a scenario involving exome testing. The study suggests that the previously developed list of minimum educational components can serve as a reasonable starting point for discussing informed consent in genetic testing. Read the full article here.
In summary: Insights from genetic professionals on genetic testing informed consent education
Article 4: Aging Fly Cell Atlas identifies exhaustive aging features at cellular resolution
A research team has created the Aging Fly Cell Atlas, a comprehensive map of gene expression in different tissues of Drosophila melanogaster at various stages of its lifespan. By sequencing over 868,000 nuclei from head and body tissues of male and female flies at different ages, the researchers identified more than 160 cell types and observed changes in gene expression and cell composition as the flies aged. They discovered that specific genes and patterns within the transcriptome could predict the biological age of the flies, offering insights into factors that affect the aging process and potentially allowing for interventions to alter the trajectory of aging. Read the full article here.
In summary: Aging fly cell atlas reveals gene expression changes and aging patterns
New in Genetics issue June 2023. Every month, Medicover Genetics curates the most important peer-reviewed scientific publications related to genetics.
References
[1] Walker, L. C., Hoya, M., Wiggins, G. A. R., Lindy, A., Vincent, L. M., Parsons, M. T., Canson, D. M., Bis-Brewer, D., Cass, A., Tchourbanov, A., Zimmermann, H., Byrne, A. B., Pesaran, T., Karam, R., Harrison, S. M., Spurdle, A. B., & ClinGen Sequence Variant Interpretation Working Group (2023). Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. American journal of human genetics, S0002-9297(23)00203-3. Advance online publication. https://doi.org/10.1016/j.ajhg.2023.06.002
[2] Monies, D., Goljan, E., Rapid Exome Consortium, Assoum, M., Albreacan, M., Binhumaid, F., Subhani, S., Boureggah, A., Hashem, M., Abdulwahab, F., Abuyousef, O., Temsah, M. H., Alsohime, F., Kelaher, J., Abouelhoda, M., Meyer, B. F., & Alkuraya, F. S. (2023). The clinical utility of rapid exome sequencing in a consanguineous population. Genome medicine, 15(1), 44. https://doi.org/10.1186/s13073-023-01192-5
[3] Hallquist, M. L. G., Borensztein, M. J., Coughlin, C. R., 2nd, Buchanan, A. H., Andrew Faucett, W., Peay, H. L., Smith, M. E., Tricou, E. P., Uhlmann, W. R., Wain, K. E., & Ormond, K. E. (2023). Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists. European journal of human genetics : EJHG, 10.1038/s41431-023-01401-0. Advance online publication. https://doi.org/10.1038/s41431-023-01401-0
[4] Lu, T. C., Brbić, M., Park, Y. J., Jackson, T., Chen, J., Kolluru, S. S., Qi, Y., Katheder, N. S., Cai, X. T., Lee, S., Chen, Y. C., Auld, N., Liang, C. Y., Ding, S. H., Welsch, D., D’Souza, S., Pisco, A. O., Jones, R. C., Leskovec, J., Lai, E. C., … Li, H. (2023). Aging Fly Cell Atlas identifies exhaustive aging features at cellular resolution. Science (New York, N.Y.), 380(6650), eadg0934. https://doi.org/10.1126/science.adg0934
