How to Calculate Probability of Genetic Disease

Although the mathematical principles of pedigree analysis are well known and widely advocated, their application in the genetic counseling office is difficult because of lack of easy-to-use tools, and therefore they are only occasionally applied and then with severe simplifications. As our understanding of the mechanisms of genetic disorders grows through knowledge gained in analyzing the human genome, both the opportunities for applying formal analytical techniques to genetic counseling and the difficulties of such applications will increase dramatically.