Is one diagnosis the whole story? patients with double diagnoses.
One of the goals of evaluating a patient in the genetics clinic is to find the diagnosis that would explain his or her clinical presentation. Sometimes the patient's diagnosis remains undefined or does not explain all of the clinical findings. As clinicians are often guided by a "single disorder" paradigm, diagnosing multiple genetic conditions in the same patient requires a heightened sense of awareness. Over the last few years, we evaluated several patients (n = 14) who were found to have more than one genetic diagnosis. In this paper, we will describe their natural history and diagnoses, and draw on the lessons learned from this phenomenon, which we expect to grow in this era of next-generation diagnostic technologies. To our knowledge, this is by far the largest series of patients with double diagnoses. Based on our findings, we strongly recommend that physicians question every diagnosis to determine whether it indeed explains all of the patients' symptoms, and consider whether they should continue the diagnostic evaluation to look for a more accurate and complete set of diagnoses. © 2016 Wiley Periodicals, Inc.
The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.|The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Institute of Technology, Haifa, Israel.
Alina
A
Kurolap
Genetics Unit, Schneider Children Medical Center, Petach Tikva, Israel.
Naama
N
Orenstein
The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
Inbal
I
Kedar
Genetics Unit, Schneider Children Medical Center, Petach Tikva, Israel.
Monika
M
Weisz Hubshman
The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Institute of Technology, Haifa, Israel.|Pediatric Endocrinology, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Dov
D
Tiosano
The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Adi
A
Mory
The Early Detection and High Risk GI Cancer Service, Gastroenterology Division, Rabin Medical Center, Petach Tikva, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Zohar
Z
Levi
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.|Pediatric A, Schneider Children Medical Center, Petach Tikva, Israel.
Daphna
D
Marom
The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
Lior
L
Cohen
The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Nina
N
Ekhilevich
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
Jessica
J
Douglas
The Feingold Center, Boston Children's Hospital, Boston, Massachusetts.
Catherine Bearce
CB
Nowak
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
Wen-Hann
WH
Tan
The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.|The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Institute of Technology, Haifa, Israel.
Hagit N
HN
Baris
D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D000066491:Clinical Decision-Making; D005260:Female; D056726:Genetic Association Studies; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D055815:Young Adult
aneuploidy; copy number variation; double diagnosis; genetic diagnosis; genome-wide technologies