According to a recent article, investigators have proposed a checklist that will aid in determining the strength of potential gene-disease relationships for rare disease.

The Need

It has already been established that genetics are important in the development of numerous diseases.  However, for rare diseases there is often a lack of genetic information. Therefore, investigators created a checklist that will help find the strength of potential gene-disease relationships (GDRs), particularly for those where there is not a lot of available genetic information.

When investigators are trying to figure out if a DNA variant is linked to a condition, they have to consider if the mutations in the genetic sequence are linked to obvious, observable, and measurable features (phenotypic). They also have to figure out if the variant is able to cause disease (pathogenic).

In order to find out if GDRs exist, investigators look to the the ClinGen GDR Framework along with other methods. Although there are other tools available to them, such as whole genome/exome sequencing, there are some issues that arise from confirming GDRs after genotyping.

The Tool

As a result, investigators suggested a checklist that will establish GDRs specifically as they relate to rare diseases and then give clinical examples of how it could be utilized to assess plausible GDRs. It is important to note that the checklist was not created to replace the framework set in place by ClinGen, but instead give more structure when there is not sufficient genetic data available. If there is enough data available, investigators say to use the ClinGen framework instead.