Using the Multi-Axial Diagnostic System (MADS): Twenty Years Experience
Soon after I moved to the USA in 1986, I started developing a diagnostic system that could solve the common diagnostic problem of confusing phenotypic, pathogenetic and etiological diagnoses. In 1991, I first presented the use of a MADS in clinical genetics, in the 23rd Annual MOD/Clinical Genetics Conference in Canada, and later in the 8th ICHG in Washington, DC. This system, similar to the DSM-III-R system used in psychiatry, was important as the clinical diagnoses, and even the ICD codes, were a mixture of etiological, pathogenetic mechanisms and phenotypic diagnoses. For simplicity, only four major categorical axes (I-Phenotypic; II-Pathogenetic; III-Etiologic, and IV-Differential Diagnoses) were defined. Since then, I have presented this system in local, regional, national and international meetings (9th and 10th ICHG) and have published it in a book [An International Multiaxial Diagnostic System in Clinical Genetics. In: "Dysmorphology and Genetics of Cardiovascular Disorders." Zerbinis, Athens, 1994] and commented in a journal [Use of a Multiaxial Diagnostic System in Clinical Genetics (L). Genet Med 4:95-96, 2002]. The major advantages of such a system include: improved diagnostic accuracy; greater reliability and homogeneity of the diagnostic categories, enhancing the comparison of diagnoses and achievements between different centers, states, regions, or countries; more comprehensive and specific definitions for controversial terms such as “syndrome” or “spectrum”; and its use for educating health professionals. In the 21st Century, when the human, medical and clinical genetics have “molecularized,” it is still crucial to perform the best possible clinical evaluation. Although in recent years another multiaxial system has been proposed (Robin NH, Biesecker LG. Considerations for a multiaxis nomenclature system for medical genetics. Genet Med 2001; 3:290-293), our system, designed to help to establish the etiological diagnosis, have proved to be an excellent diagnostic tool. In this presentation I will summarize my experience of 20 years of using this system daily. I will emphasize the step-by-step method, and the importance of using it in birth defects registries as well as in teaching.