Non-potluck post: Paediatric genomics, current considerations, and future possibilities.

Paediatric genomics, as noted by Wright et al. (2018), is a newly emerging field that has the potential to vastly improve the diagnosis and treatment processes for children with rare diseases that may have a genetic cause. Due to the adverse effects of many rare diseases that affect children it is doubtful that the genetic mechanisms for them will be found in the adult population (Wright et al. 2018). The exact relationships between phenotypes associated with rare childhood diseases and the genetic mechanisms is not fully understood, however, as the field of paediatric genomics progresses new discoveries are being made that are beneficial to disease diagnosis and treatment (Wright et al. 2018).

Previous approaches examined a single gene at a time, via Sanger sequencing, however, not all diseases have a monogenic cause (Wright et al. 2018). The introduction of next generation sequencing (NGS) methods, including whole exon sequencing (WES) and whole genome sequencing (WGS), has expanded the amount of DNA that can be examined through one test but means that the test is less targeted (Wright et al. 2018).

There are also many social, ethical and legal considerations when working with the genetic information of very young individuals, as they cannot always provide their own consent and the responsibility falls to the parents and the medical staff working with them (Wright et al. 2018). Questions have been raised as to whether genetic tests in children should be used to test for diseases that may appear later in life, as WES and WGS also provide information on genetic material that may not be related to the childhood disease in question (Wright et al. 2018). 

The use of NGS methods can shorten the time needed and the reduce the number of tests required to make a diagnosis, although it is still recommended that other corroborative tests are performed to confirm the diagnosis (Wright et al. 2018). However, whilst a relatively quick diagnosis may be possible using NGS methods it also requires there to be individuals with the relevant expertise on hand (Wright et al. 2018). Overall, Wright et al. (2018) state that as the field progresses a greater understanding is gained in how genetic mechanisms and the observable phenotypes are related, which will allow for the development of more specific and targeted tests in the future.

Click here for the article.

References

Wright, C.F., FitzPatrick, D.R., Firth, H.V., 2018. Paediatric genomics: diagnosing rare disease in children. Nature Reviews Genetics. 19: 253-268.

First post from Nature Reviews Genetics.

Victoria Lockwood