Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies.

Background: The purpose of this paper is to describe the data collection efforts and validation of PhenX measures in the Personalized Medicine Research Project (PMRP) cohort.

Methods: Thirty-six measures were chosen from the PhenX Toolkit within the following domains: demographics; anthropometrics; alcohol, tobacco and other substances; cardiovascular; environmental exposures; cancer; psychiatric; neurology; and physical activity and physical fitness. Eligibility criteria for the current study included: living PMRP subjects with known addresses who consented to future contact and were not currently living in a nursing home, available GWAS data from eMERGE I for subjects where age-related cataract, HDL, dementia and resistant hypertension were the primary phenotypes, thus biasing the sample to the older PMRP participants.

A rural community's involvement in the design and usability testing of a computer-based informed consent process for the Personalized Medicine Research Project.

Many informed consent studies demonstrate that research subjects poorly retain and understand information in written consent documents. Previous research in multimedia consent is mixed in terms of success for improving participants' understanding, satisfaction, and retention. This failure may be due to a lack of a community-centered design approach to building the interventions.

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.

Purpose: Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific results or weighed deliberations against relevant local contextual factors.

Methods: The Electronic Medical Records and Genomics (eMERGE) Network, which includes five biorepositories conducting genome-wide association studies, convened a return of results oversight committee to identify potentially returnable results.

Cataract research using electronic health records.

Background: The eMERGE (electronic MEdical Records and Genomics) network, funded by the National Human Genome Research Institute, is a national consortium formed to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic health record (EHR) systems for large-scale, high-throughput genetic research. Marshfield Clinic is one of five sites in the eMERGE network and primarily studied: 1) age-related cataract and 2) HDL-cholesterol levels. The purpose of this paper is to describe the approach to electronic evaluation of the epidemiology of cataract using the EHR for a large biobank and to assess previously identified epidemiologic risk factors in cases identified by electronic algorithms.

Alcohol, tobacco, and drug use disorders and personality disorder symptoms.

In a nonclinical sample of 395 young adults, the authors evaluated the relations between major personality traits, Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American Psychiatric Association, 1994) personality disorder symptoms, and DSM-IV alcohol use disorders (AUDs). Consistent with previous findings, traits related to disinhibition and negative affectivity were consistently associated with AUDs, as were Cluster B personality disorder symptoms (especially antisocial and borderline disorder symptoms).

Attachment, parental bonding and borderline personality disorder features in young adults.

The relations between parental bonding and attachment constructs and borderline personality disorder features were examined in a sample of 393 18-year-old participants. Hierarchical regression analyses revealed that parental bonding and attachment scores (especially insecure attachment, anxious or ambivalent attachment, and a perception of a relative lack of caring from one's mother) were uniquely associated with borderline features beyond what could be accounted for by gender, childhood adversity experiences, Axis I disorder, and nonborderline Axis II symptoms. Although relatively modest, these relations suggest that bonding and attachment constructs might be considered in comprehensive etiological models of borderline personality disorder.