Kesselheim, A; Ashton, E; Bockenhauer, D; (2017) Potential and pitfalls in the genetic diagnosis of kidney diseases. Clinical Kidney Journal , 10 (5) pp. 581-585. 10.1093/ckj/sfx075.

Preview

Text Kesselheim_Potential_pitfalls_genetic_diagnosis.pdf - Published Version Download (354kB) | Preview

Abstract

Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier. The article by Ars and Torra in this issue of the Clinical Kidney Journal provides examples of the ever-increasing ability to understand a given patient's disease on the molecular level, so that in some cases not only the causative variants in a disease gene are identified, but also potential modifiers in other genes. Yet, with increased sequencing, a large number of variants are discovered that are difficult to interpret. These so-called 'variants of uncertain significance' raise important questions: when and how can pathogenicity be clearly attributed? This is of critical importance, as there are potentially serious consequences attached: decisions about various forms of treatment and even about life and death, such as termination of pregnancy, may hinge on the answer to these questions. Geneticists, thus, need to use the utmost care in the interpretation of identified variants and clinicians must be aware of this problem. We here discuss the potential of genetics to facilitate personalized treatment, but also the pitfalls and how to deal with them.

Download activity - last month

Export as XMLJSONCSV

Download activity - last 12 months

Export as XMLJSONCSV

Downloads by country - last 12 months

Export as JSONCSVXML

Archive Staff Only

View Item