Using the Coriell Personalized Medicine Collaborative Data to conduct a genome-wide association study of sleep duration.

Sleep is critical to health and functionality, and several studies have investigated the inherited component of insomnia and other sleep disorders using genome-wide association studies (GWAS). However, genome-wide studies focused on sleep duration are less common. Here, we used data from participants in the Coriell Personalized Medicine Collaborative (CPMC) (n = 4,401) to examine putative associations between self-reported sleep duration, demographic and lifestyle variables, and genome-wide single nucleotide polymorphism (SNP) data to better understand genetic contributions to variation in sleep duration. We employed stepwise ordered logistic regression to select our model and retained the following predictive variables: age, gender, weight, physical activity, physical activity at work, smoking status, alcohol consumption, ethnicity, and ancestry (as measured by principal components analysis) in our association testing. Several of our strongest candidate genes were previously identified in GWAS related to sleep duration (TSHZ2, ABCC9, FBXO15) and narcolepsy (NFATC2, SALL4). In addition, we have identified novel candidate genes for involvement in sleep duration including SORCS1 and ELOVL2. Our results demonstrate that the self-reported data collected through the CPMC are robust, and our genome-wide association analysis has identified novel candidate genes involved in sleep duration. More generally, this study contributes to a better understanding of the complexity of human sleep.

Broadening research consent in the era of genome-informed medicine.

Genetic variant associations and advances in research technologies are generating an unprecedented volume of genomic data. Whole-genome sequencing will introduce even greater depth to current data sets and will propel medical research and development. Yet as one area of biomedical research evolves, another stagnates: informed consent. As presently employed, informed consent is not entirely attuned to the era of whole-genome sequencing. The greatest value of genomic data lays in its accessibility over time; the current model of informed consent restricts the use of data and does not readily accommodate prospective basic and clinical research, a priori research, or opportunities to act upon incidental findings. It also disengages the research participant from the discovery process, discouraging the provision of research results that may have clinical value to that individual. A revisited informed consent approach-the Informed Cohort Oversight Board (ICOB)-has been proven successful at consenting individuals to a model which facilitates the simultaneous construction of longitudinal data with the return of results to participants as scientific knowledge and technology allows. The opportunity to sequence once and consult often is cost-effective, encourages scientific innovation, and provides the opportunity to quickly translate genomics into better clinical care.

Preparedness for a natural disaster: how Coriell planned for hurricane Sandy.

When a biological specimen is donated to a biobank such as the nonprofit Coriell Institute for Medical Research, regardless of whether that submission is sent directly or through a physician, scientist, foundation, or patient-centered advocacy organization, the donor expects their biomaterial to be processed effectively and stored in proper conditions until distribution to researchers answering scientific questions. The donor and scientific researchers rarely, if ever, consider what might happen to those specimens if the biobank experiences an adverse event, such as a disaster that compromises its business operations, including handling of samples. Management of biomaterials is not simply a laboratory process; their long-term survival is dependent on both the laboratory preparation and the infrastructure designed for maintenance, safety, and security. Coriell Institute has documented disaster preparedness plans since its inception in 1953, and currently manages hundreds of thousands of cell lines and DNA samples under ISO 9001 quality management standards, complete with a robust Emergency Operations Plan. The Institute's recent approach to preparing for Hurricane Sandy, a Category 1 hurricane that struck the East Coast of the United States in late October 2012, was two-fold. It included the validation of its long-term strategies focused on emergency back-up systems, communication solutions, and employee training, and implementation of short-term tactics such as confirming on-call emergency response personnel and safe storage options for working biomaterials and reagents. The purpose of this article is to review several best practices in use at Coriell Institute associated with disaster planning and to identify and evaluate the effectiveness of those elements in coping with Hurricane Sandy.