Discussion: The Selection Criteria of Population Scale Study
The selection of population is a very crucial point and an important foundation to find the satisfaction result. To have a population-scale study, the selected population cannot be just anyone. There must be some criteria for those selected populations.
In this discussion, I use this article from The American Journal of Human Genetics, Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease, Emilie Cornec-Le Gall 2018.
Selected Population
- Those who are at risk of having Autosomal-dominant polycystic kidney disease (ADPKD).
- Those who are at risk of having Polycystic liver disease (ADPLD).
Selection Criteria
- Who was diagnosed with ADPKD or ADPLD.
- family history: inherited as an autosomal dominant trait (ADPKD has an autosomal dominant trait)
Suitability with the Study
The main idea of this study is to do the whole-exome sequencing on those who have the resolved and unresolved ADPKD or ADPLD (The genetic disease can still not being fully penetrance so, those who are unresolved can still have a chance of having the symptom) to find the variant which causes the disease. By selecting only the person who absolutely has the ADPKD or ADPLD is a very good selection and suits the study design.
If they select “all” the family members who are within the same family as the person who is diagnosed having the ADPKD or ADPLD, the study will make so much less sense. In fact, they will not effectively find the causative variant because they will sequence the mixed population of those who do and do not have the disease. It is good the see they did it right (Well, if they did it wrong, they would not make it to the publication anyway but it is still good to spot something like this).
