A recent study published by members of the SHaRe Cardiomyopathy Registry found that genetic test results for HCM are more definitive and helpful to patients when testing has been carried out at a high volume HCM center – especially a center that shares genetic data with other HCM centers.
In particular, the researchers found that when genetic testing has been performed at a HCM Center, approximately 80% of the time there will be a finding that the results of the genetic testing were abnormal, normal, or inconclusive. The percentage of cases where the experts may disagree over the meaning of the results is as low as 20%.
These numbers are in contrast to a situation where genetic testing has been performed by a commercial genetic testing company outside of a HCM Center. Here, agreement over the meaning of results happens less than 55% of the time.
The SHaRe researchers theorize that this discrepancy is attributable to the higher level of expertise that cardiologists and genetic counselors at HCM centers have in evaluating family trees and interpreting test results.
The key message in the article is that data sharing among centers performing genetic testing is essential in order to obtain the best possible interpretation of genetic testing results. This sharing enables HCM families to learn if other family members are affected, and to assist family members in making more educated decisions relating to appropriate levels of activity for family members who carry the gene, and to make plans, as necessary, for continued clinical testing of family members.
A nice summary and write up about the study can be found here.