Introduction

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.

Eventually, a further year and a half later and after tests of 13 genes had given negative results, the researcher contacted the clinician to say that a potentially pathogenic change in the DNA had been identified. The clinician was asked to obtain samples from the unaffected parents. The mutation was not present in either parent, establishing that the change had arisen de novo in the patient and was the cause of the clinical problem. Hence, three and a half years after the initial contact, the researcher had established unequivocally the correct diagnosis, mechanism of inheritance, and appropriate molecular test for the patient's condition.

Should this be considered research or clinical investigation?