Family study designs in the age of genome-wide association studies: experience from the Framingham Heart Study

Purpose of review The past year has seen the publication of many genome-wide association studies, most of which are case-control studies. These publications are at the forefront of current research into the examination of genetic effects for numerous diseases, including diabetes, heart disease and cancer. Over the past 25 years the tour de force of genetics research has been in family studies, using segregation, linkage and association analyses. Are these approaches now passe? Here we discuss the role of family studies in modern genetics research, using results from the Framingham Heart Study as examples. Recent findings Family studies permit both linkage and association analyses. Importantly, family-based association tests that consider transmission of genetic variants within a family provide important information on the genetic etiology of disease traits and avoid the potential of false-positive findings due to population substructure. Summary Family-based study designs continue to contribute much to the modern era of genome-wide association studies.