ABSTRACT

The information provided in this chapter is intended to provide a scientific basis for the material in other chapters. For some practitioners, this information may be unfamiliar. Many practitioners will have studied genetics in depth, but may not previously have applied that knowledge in a healthcare setting. It is obviously not possible in this text to cover all the scientific knowledge that is required for competent practice in genetic healthcare, and appropriate texts for more detailed reading are included at the end of the chapter. The face of genomic healthcare is changing so rapidly that current knowledge on the genetic basis of particular diseases is usually best obtained via scientific websites hosted by reputable institutions, such as Online Mendelian Inheritance in Man (OMIM) or the National Institutes of Health (NIH). These sources can be updated almost instantaneously as new findings emerge. A number of these websites are listed at the end of the book.