Medical Genetics - V. M. Zaporozhan 2005

Diagnostic methods for hereditary diseases
Use of computer diagnostic software and databases

Today, several thousand hereditary disorders have been identified. It is impossible for a medical geneticist to keep information on all known nosological entities in memory. Therefore, specialized computer diagnostic programs and information Databases have been developed.

1. Diagnostic programs. One of the best English-language programs is "Possum" (The London Data Bases), which contains descriptions of Hereditary diseases along with photographs of patients. The Research Centre for Medical Genetics of the Russian Academy of Medical Sciences has developed information-retrieval diagnostic programs for diagnosing inherited Metabolic Disorders, Congenital Malformations, Chromosomal diseases, and rare genetic syndromes. Descriptions of these programs can be found on the website:

http://www.medgen.ru/index.shtml?page=develops/develops.html&menu=mainmenu.html.

A computer program for diagnosing genetic syndromes, skeletal dysplasias, and ectodermal dysplasias has also been developed at the Research Institute of Hereditary and Congenital Diseases of the Ministry of Health of the Republic of Belarus (Minsk).

All diagnostic programs allow clinicians to identify a group of syndromes presenting with specific symptoms, based on the patient's minor anomalies, malformations, and paraclinical examination data, and to perform Differential Diagnosis. One can also access the database to retrieve a detailed description of a syndrome and even photographs of patients.

All programs are commercial and widely used in medical genetics centers.

2. Special computer diagnostic programs are utilized to analyze the results of cytogenetic and molecular genetic studies, as well as for prenatal diagnosis (analyzing biochemical and ultrasound screening results and calculating individual genetic risk).

3. Computer information databases.

In the USA, a computerized equivalent of V. McKusick's catalog of genes and Monogenic Disorders, "On-line Mendelian Inheritance in Man — OMIM" (http://www.ncbi.nlm.nih.gov/omim), has been created and is updated daily. This information-retrieval system contains descriptions of all known human disease-causing genes and monogenic disorders, as well as genes responsible for Multifactorial Diseases. Additional information about this program can be found at http://www3.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

Information on human genetic maps can be found on the website http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi?chr=hum_chr.inf&query



Last update: 11/08/2026

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