News & Comment

Recent discoveries and improvements in technology have boosted the profile of 'personalized genomics'. But the demonstrated complexities of the genetics of common disease suggest caution—and an urgent need for more data, both in and out of the lab.

Understanding human genome function and variation will require developing genetics capacity in population-rich as well as resource-rich regions of the globe. Medicine based in genetics provides a route for developing countries to improve healthcare, from primary care, via prevention of genetic diseases to opportunities for new research.

Medical genetics involves the application of genetic knowledge and technology to specific clinical and epidemiologic concerns. Using genetics to benefit society requires that empirically verified knowledge be used within an ethical framework that combines appeal to written precedent with sensitivity to the options of individuals and families dealing with choices and necessities within the laws, norms and traditions of their society. Islamic bioethics is derived from a combination of principles, duties and rights, and to a certain extent a call to virtue, ihsan. It emphasizes prevention, and it teaches that the patient must be treated with respect and compassion and that the physical, mental and spiritual dimensions of the illness experience must be taken into account. Strategic planning for the prevention and care of genetic disorders, and for genomic research, within the context of Islamic religion and culture is promising and may provide lessons to the developed world. Islamic bioethics provides fundamental principles for genetic counseling, particularly in regard to consanguinity, which was part of the Arabian culture long before Islam but which was discouraged by the second Islamic khalifa. These fundamental principles are important for implementing many preventive and genomic research programs and for maintaining flexibility to respond to new biomedical technologies.

Common gene variants influencing transcript levels can now be reproducibly identified by genome-wide screens. Some of the same variants contribute to clinical traits.

The National Center for Biotechnology Information has created the dbGaP public repository for individual-level phenotype, exposure, genotype and sequence data and the associations between them. dbGaP assigns stable, unique identifiers to studies and subsets of information from those studies, including documents, individual phenotypic variables, tables of trait data, sets of genotype data, computed phenotype-genotype associations, and groups of study subjects who have given similar consents for use of their data.

The US government needs to show a commitment to keeping the nation competitive in science and technology.

The Genetic Association Information Network (GAIN) is a public-private partnership established to investigate the genetic basis of common diseases through a series of collaborative genome-wide association studies. GAIN has used new approaches for project selection, data deposition and distribution, collaborative analysis, publication and protection from premature intellectual property claims. These demonstrate a new commitment to shared scientific knowledge that should facilitate rapid advances in understanding the genetics of complex diseases.

Procedures for microattribution need to be established by journals and databases so that data producers have an overwhelming incentive to deposit their results in public databases and thereby to receive quantitative credit for the use of every published data accession.

Kevin Davies, the founding editor of Nature Genetics, recalls the perfect storm of events and personalities that governed the launch of the journal 15 years ago and its formative years. The journal offered a high-profile forum for the genetics community—and a bold new direction for Nature Publishing Group.