Ethical review of research into rare genetic disorders

Publisher Website
Google Scholar
Abstract
Consider this case. A clinical geneticist telephoned a medically qualified researcher to discuss a patient with an unusual combination of clinical features. The patient presented a puzzle for diagnosis and for counselling about the genetic risk. Two months later, the clinician sent the researcher DNA from the patient, together with clinical photographs and copies of clinical letters. No mutation hotspots were found in relevant genes, and the sample was added to a “research panel.” The clinician made further contact two years later, asking whether there were any positive results (the reply was negative) and providing some further clinical information.

This publication has 0 references indexed in Scilit: