Lessons from Genome Wide Association Studies

Richard S. Legro, MD

Our journal is pleased to present our guest editor for this issue, Joop S.E. Laven, Professor of Reproductive Medicine at the Erasmus Medical Centre in Rotterdam, The Netherlands. After medical school at the University of Utrecht, he completed his Ph.D. thesis on clinical and experimental aspects of varicocele at the same university in 1991. From 1991 till 1997 he continued his training at the University Medical Centre St. Radboud in Nijmegen. In 1997 he became board certified in OBGYN (FRCOG) and moved to the Erasmus Medical Centre in Rotterdam. In 2000 he became certified subspecialist Reproductive Medicine. He is a member of ESHRE, ASRM, the Endocrine Society, the Society for Reproductive Investigation (SRI) and the Royal Dutch College of Obstetrics and Gynecology. He is the past president of the Dutch Society of Reproductive Medicine.

His clinical work focuses on women's health in particular reproductive endocrinology and menopause as well as on infertility treatment and ART and pregnancy outcome in infertile couples especially women with PCOS. He is the person Responsible for the Rotterdam Erasmus MC Reproductive Medicine Unit, which performs ∼2400 IVF cycles per year. Works as a full time clinician and is currently head of the Division of Reproductive Medicine of the department of OBGYN at Erasmus MC in Rotterdam.

He has published over 175 peer-reviewed papers and several reviews as well as chapters in books, and has delivered over 200 lectures to international scientific audiences.

For many years he had a particular research interest in the management of polycystic ovary syndrome covering the full spectrum from the effects of the syndrome during adolescence and adult life on the menstrual cycle, fertility, body weight and cosmetic aspects. During the last decade his research has focused on more fundamental effects that PCOS may have on quality of life and long-term health risks as well as the genetic basis of the disease. This led to several genetic association studies exploring the relationship between aspects of PCOS diagnosis or treatment response with polymorphic genetic markers. More recently he has taken a larger step and committed to much larger Genome Wide Association Studies (GWAS) exploring the genetic basis of PCOS, premature ovarian insufficiency, menarche and menopause. He has published his results in the leading genetics journals.

We have seen a profusion of GWASs in all areas of medicine, and it is dizzying to keep up with their results. We are seeing in the U.S. a huge initiative toward personalized medicine with one of the goals being to personalize diagnoses and treatments based on genomic information, either of the individuals germline or mutated genome (i.e., tumors, cancers, etc.). The information is accumulating quicker than we can digest it. Professor Laven has assembled an outstanding group of authors to summarize the current status of GWAS in reproductive medicine and to speculate on what it holds for the future of clinical medicine.

If anyone doubts the need for this, let me relate a personal anecdote. We recently had the pleasure of hosting Professor Laven for grand rounds at our institution. The title of his lecture included the acronym GWAS (as in GWAS in reproductive medicine). One of our faculty emailed with the query: What is a GWAS? Anyone who reads this issue will have this question answered as well as the how and why. The future is now and in our professional lifetimes, incorporating personal genomic information will be part of our daily practice.