When the first edition of Genetic Screening and Counseling was published in 2002,1 the draft of the human genome had just been declared Since then, the sequence has become nearly finalized, and the focus is turning to translation of this information to the bedside. The genomics era is increasingly bearing fruit and promises a paradigm shift in research and medical practice. To the clinician, counseling and genetic diagnoses will become an increasing part of daily practice. The generalist obstetrician/gynecologist is included