Reviewer: Luis F Escobar, MD., MS. (Peyton Manning Children's Hospital)
Description: This is a wonderful annual that extracts from the literature innovative ideas or comprehensive reviews of current genetic knowledge. It is not intended to be all inclusive, but a representation of new technology and clinical recognition and understanding of genomics and human genetics. The editors have done an excellent job recruiting leading experts in their field to contribute, with an initial historical chapter written by Dr. Victor McKusick.
Purpose: The goal of this annual series is to review information extracted from the scientific literature that represents critical knowledge that may influence the direction of readers' thinking and work.
Audience: The audience cannot be limited to clinicians, medical students, residents, and basic research scientists. Any person interested in human genetics would find areas of interest in this wonderful volume. All of the invited authors are well known in their respective fields.
Features: This volume covers a variety of subjects, from a historical review by Dr. McKusick of his amazing voyage through human genetics to discussion of ethical issues such as preimplantation genetics. Technological areas that are described well include genome-wide analysis, pharmacogenetics, mouse chromosome engineering, and genetic informatics. Clinical genetics is represented by unusual subjects such as ciliopathies, genetic disorders of adipose tissue. Of great interest to me was the well written article by Knoppers, Bordet and Isasi on preimplantation genetic diagnosis that included an overview of ethical and legal considerations. The description by Maston and collaborators of transcriptional regulatory elements in the human genome is also a fascinating piece. The presentation of figures makes them easy to read and they correlate extremely well with the text.
Assessment: An annual review of genomics and human genetics is wonderful resource. It provides readers with an excellent source to quickly review the relevant literature published every year in this area. The value of the compilation is in the ability to place in front of the readers a wide range of subjects. Clearly, this is a useful tool for human geneticists to stay updated in areas that may not be their specific areas of expertise.