Exome sequencing a review of new strategies for rare genomic disease research

Abstract

The journey related to genomic information access and utilization by researchers and clinicians has barely begun to be travelled. There remains a broad horizon in the research and clinical arenas for fulfillment of that journey. Exciting is the potential depth and breadth of research, clinical applications, and more personalized medicine, that remain on the horizon. Exome sequencing has clarified the responsibilities of over 130 genes, greatly expanding the medical genetics database and enabling the development of orphan disease-based pharmaceuticals. Our research focus was to review >50 literature sources that related to rare genomic disease research and exome sequencing, as well as the new research and diagnostic strategies that were utilized. Using a systems approach, under discussion are ciliopathy, dermatology, otorhinolaryngology, immunology, gastroenterology, hematopoiesis, metabolic diseases, and the cardiovascular system. Also discussed are genetic, syndromic, and mitochondrial exome research. Recommendations for future research will also be discussed.

Chemically Precise Glycoengineering Improves Human Insulin

“…1 Since its first clinical administration in 1922, insulin therapy has become a life-saving necessity for patients with type 1 diabetes, and a critical option for managing type 2 diabetes when other therapies fail. 2,3 Starting insulin use early in patients with type 2 diabetes leads to better glycemic control and improved long-term outcomes. 4 Although it is effective and beneficial in controlling diabetes, more than half of patients for whom insulin is recommended do not achieve its required schedule, which adversely impacts treatment outcomes.…”

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

“…The Critical Assessment of Genome Interpretation (CAGI) is a community experiment, which aims to advance methods for phenotype prediction from genotypes through a series of “challenges” with real data (CAGI, ). Exome‐sequencing data, which captures exons and nearby flanking regulatory regions, is already being used clinically to solve medical mysteries with well‐defined symptoms (Brown & Meloche, ). However, in order to advance precision medicine, clinicians and scientists will need to be able to make inferences about disease risk or drug efficacy from genetic data.…”

Your DNA, Your Say

“…Genomic medicine is being ‘mainstreamed’ across whole healthcare services, i.e. it is no longer found only in specialist clinical genetics services, but is available in dermatology, ENT, cardiology, paediatrics, obstetrics, oncology plus many other specialties (Kotze et al 2015; Brown and Meloche 2016). Given that the results of a genomic test may not only be relevant to the individual who was tested, but also every single one of their biological relatives too, this means that the implications of each test reach outside of the clinical encounter and into the family and extended family.…”