The landscape of genomic technologies is rapidly evolving, transforming the way we understand, diagnose and treat human diseases. With the increased accessibility and capacity of DNA sequencing, the knowledge base around genetic variants has expanded exponentially. Emerging technologies like RNA sequencing and optical genome mapping are now pushing the possibilities even further. Given the pace of these advancements, genetic counselors will continue to be pivotal for translating the complex data into meaningful clinical insights.   

A 2019 survey by the Genomic Technology Special Interest Group (SIG) highlighted a significant gap in knowledge among clinical genetic counselors regarding genomic technologies such as cfDNA, NGS, MLPA and aCGH. Over 70% of respondents acknowledged that a robust understanding of these technologies is crucial for effective job performance, and 55% indicated a need for additional training (Hagman et al., 2020). This data underscores the urgent need for continuous education in this field. 

Since the survey, the exploration and application of new genomic technologies have only intensified.  

Real-World Applications of New and Emerging Technologies 

Long-read NGS, often referred to as “third-generation sequencing,” allows for the sequencing of DNA fragments that are significantly longer than those used in short-read sequencing. This capability offers numerous benefits in genomic testing, including the ability to resolve complex genomic regions (van Dijk et al., 2018), detect structural variants (Sedlazeck et al., 2018) and improve the assembly of genomes (Rhoads & Au, 2015). 

Similarly, RNA sequencing, or whole transcriptome sequencing, has shown promise in understanding gene expression patterns in various diseases. In oncology, for example, RNA sequencing can reveal the expression levels of oncogenes and tumor suppressor genes, providing insights into the molecular mechanisms driving cancer progression (Conesa et al., 2016), detection of alternative splicing (Baralle & Giudice, 2017) and the identification of fusion genes (Mertens et al., 2015). 

Additionally, whole methylome analysis is emerging as a critical tool in epigenetics, helping to unravel the complex interactions between genes and the environment. This is particularly important for understanding how genes are turned on or off in different cellular contexts (Jones, 2012; Lister et al., 2009). Understanding these epigenetic modifications can lead to the development of new diagnostic markers and therapeutic targets in clinical areas including cancer, developmental biology and aging — ultimately improving patient outcomes. 

Bridging the Knowledge Gap 

Understanding these emerging technologies equips genetic counselors to better assist patients, especially those with negative genetic evaluations. Recognizing this need, the Genomic Technologies SIG and Laboratory & Industry SIG organized an NSGC pre-conference symposium titled “From Genome to Transcriptome to Methylome – A Journey Through the ‘omes’ Coming Soon to a Clinic Near You!” This symposium aims to bridge the current knowledge gap among genetic counselors across various specialties and work settings. 

The five-hour symposium is structured to provide a comprehensive learning experience. It will begin with didactic sessions led by industry experts, covering the fundamentals of Long Read Sequencing, Optical Genome Mapping, RNA Sequencing/Whole Transcriptome Sequencing and Methylomics. Examples of applications to patient care will be included for each technology. These sessions will offer attendees a solid grounding in how these technologies are used in both genomic research and clinical diagnostics. 

Following the didactic sessions, participants will engage in small-group, moderator-led interactive workshops designed to apply their newfound knowledge to real-world scenarios. These workshops will encourage collaboration and critical thinking, enabling participants to explore the clinical applications of these cutting-edge technologies. 

The symposium will culminate in an expert panel discussion on hot topics, including the current status of these technologies and the barriers to bringing them to the mass market. This panel will provide valuable insights into the challenges and opportunities that lie ahead, offering attendees a chance to engage with leaders in the field and discuss the future of genomic technologies. 

For genetic counselors, staying abreast of these advancements is not just a professional responsibility but a necessity to remain effective in their roles. The symposium represents a unique opportunity to gain in-depth knowledge, develop practical skills and network with peers and experts. By attending, genetic counselors will be better prepared to integrate these new technologies into their practice, ultimately enhancing patient care and advancing the field of genomics. 

If you are interested in attending this session, you can add it onto your existing NSGC Annual Conference registration by contacting NSGC.

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References

• Baralle, F. E., & Giudice, J. (2017). Alternative splicing as a regulator of development and tissue identity. Nature Reviews Molecular Cell Biology, 18(7), 437-451. https://doi.org/10.1038/nrm.2017.27
• Conesa, A., Madrigal, P., Tarazona, S., Gomez-Cabrero, D., Cervera, A., McPherson, A., ... & Mortazavi, A. (2016). A survey of best practices for RNA-seq data analysis. Genome Biology, 17, 13. https://doi.org/10.1186/s13059-016-0881-8
• Hagman, K., et al. (2020). Survey on the Knowledge of Genomic Technologies among Clinical Genetic Counselors. Journal of Genetic Counseling.
• Hudson, T. J., Anderson, W., Artez, A., Barker, A. D., Bell, C., Bernabé, R. R., ... & Knoppers, B. M. (2020). International network of cancer genome projects. Nature, 464(7291), 993-998. https://doi.org/10.1038/nature08987
• Jones, P. A. (2012). Functions of DNA methylation: islands, start sites, gene bodies and beyond. Nature Reviews Genetics, 13(7), 484-492. https://doi.org/10.1038/nrg3230
• Lister, R., Pelizzola, M., Dowen, R. H., Hawkins, R. D., Hon, G., Tonti-Filippini, J., ... & Ecker, J. R. (2009). Human DNA methylomes at base resolution show widespread epigenomic differences. Nature, 462(7271), 315-322. https://doi.org/10.1038/nature08514
• Mantere, T., Kersten, S., & Hoischen, A. (2019). Long-read sequencing emerging in medical genetics. Frontiers in Genetics, 10, 426. https://doi.org/10.3389/fgene.2019.00426
• Mertens, F., Johansson, B., Fioretos, T., & Mitelman, F. (2015). The emerging complexity of gene fusions in cancer. Nature Reviews Cancer, 15(6), 371-381. https://doi.org/10.1038/nrc3947
• Neveling, K., Feenstra, I., Gilissen, C., Nelen, M. R., Hoefsloot, L. H., Kamsteeg, E. J., ... & Schieving, J. H. (2017). A comprehensive implementation of microarray based comparative genomic hybridization, next generation sequencing and optical genome mapping in clinical diagnostics of patients with complex developmental disorders. Molecular Genetics & Genomic Medicine, 5(2), 118-130. https://doi.org/10.1002/mgg3.287
• Rhoads, A., & Au, K. F. (2015). PacBio sequencing and its applications. Genomics, Proteomics & Bioinformatics, 13(5), 278-289. https://doi.org/10.1016/j.gpb.2015.08.002
• Sedlazeck, F. J., Lee, H., Darby, C. A., & Schatz, M. C. (2018). Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nature Reviews Genetics, 19(6), 329-346. https://doi.org/10.1038/s41576-018-0003-4
• van Dijk, E. L., Jaszczyszyn, Y., Naquin, D., & Thermes, C. (2018). The third revolution in sequencing technology. Trends in Genetics, 34(9), 666-681. https://doi.org/10.1016/j.tig.2018.05.008

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