Long-Term Recall of Elements of Informed Consent: A Pilot Study Comparing Traditional and Computer-Based Consenting.

Background:: The purpose of this study was to evaluate long-term recall of elements of informed consent.

Methods:: Men enrolling in a biobank for a study of prostate cancer were randomized to traditional or computer-based consenting. Two-page questionnaires were mailed to participants six months after the consent process.

Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using biofilter, and gene-environment interactions using the Phenx Toolkit*.

Investigating the association between biobank derived genomic data and the information of linked electronic health records (EHRs) is an emerging area of research for dissecting the architecture of complex human traits, where cases and controls for study are defined through the use of electronic phenotyping algorithms deployed in large EHR systems. For our study, cataract cases and controls were identified within the Marshfield Personalized Medicine Research Project (PMRP) biobank and linked EHR, which is a member of the NHGRI-funded electronic Medical Records and Genomics (eMERGE) Network. Our goal was to explore potential gene-gene and gene-environment interactions within these data for 527,953 and 527,936 single nucleotide polymorphisms (SNPs) for gene-gene and gene-environment analyses, respectively, with minor allele frequency > 1%, in order to explore higher level associations with cataract risk beyond investigations of single SNP-phenotype associations.

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.

Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using Biofilter, and gene-environment interactions using the PhenX Toolkit.

Investigating the association between biobank derived genomic data and the information of linked electronic health records (EHRs) is an emerging area of research for dissecting the architecture of complex human traits, where cases and controls for study are defined through the use of electronic phenotyping algorithms deployed in large EHR systems. For our study, 2580 cataract cases and 1367 controls were identified within the Marshfield Personalized Medicine Research Project (PMRP) Biobank and linked EHR, which is a member of the NHGRI-funded electronic Medical Records and Genomics (eMERGE) Network. Our goal was to explore potential gene-gene and gene-environment interactions within these data for 529,431 single nucleotide polymorphisms (SNPs) with minor allele frequency > 1%, in order to explore higher level associations with cataract risk beyond investigations of single SNP-phenotype associations.

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.

Importance of multi-modal approaches to effectively identify cataract cases from electronic health records.

Objective: There is increasing interest in using electronic health records (EHRs) to identify subjects for genomic association studies, due in part to the availability of large amounts of clinical data and the expected cost efficiencies of subject identification. We describe the construction and validation of an EHR-based algorithm to identify subjects with age-related cataracts.

Materials And Methods: We used a multi-modal strategy consisting of structured database querying, natural language processing on free-text documents, and optical character recognition on scanned clinical images to identify cataract subjects and related cataract attributes.

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.

Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience.

In 2007, the National Human Genome Research Institute (NHGRI) established the Electronic MEdical Records and GEnomics (eMERGE) Consortium (www.gwas.net) to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research.

Community engagement in biobanking: Experiences from the eMERGE Network.

Advances in genomic technologies and the promise of "personalised medicine" have spurred the interest of researchers, healthcare systems, and the general public. However, the success of population-based genetic studies depends on the willingness of large numbers of individuals and diverse communities to grant researchers access to detailed medical and genetic information. Certain features of this kind of research - such as the establishment of biobanks and prospective data collection from participants' electronic medical records - make the potential risks and benefits to participants difficult to specify in advance.

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.