2022 Volume 22 Issue 2 Pages 54-59
Uninformative negative results of genetic testing has been frequently experienced. Recent technological development and accumulation of knowledge of the molecular mechanisms of disease onset enables us to obtain the correct diagnosis for many cases in a retrospective manner. It is quite important to salvage the cases that may be diagnosed correctly with the new knowledge although sometimes there is no analytical technologies that can be easily performed for the genetic disorders of interest. In other words, filling the chronological or technical gaps between diagnosed and undiagnosed cases in genetic medicine is critical and we need to develop a method to fill the gap between those cases. In the present report, we introduce an example of Lynch syndrome pedigree with a deletion of the EPCAM gene. Careful, earnest, and supportive genetic counseling and development of tight relationship between a genetic counsellor and family members could fill the gaps in genetic diagnosis of a large pedigree even after the long period of time from uninformative negative results. We also discuss how the outcome of probands may affect the feeling of other family members for genetic testing.
