We have demonstrated that algorithms to identify and characterize cataracts can be developed utilizing data collected via the EHR. These algorithms provide a high level of accuracy even when implemented across multiple EHRs and institutional boundaries.
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 (RROC) to identify potentially returnable results. Network-wide deliberations were then brought to local constituencies for final decision-making.
Results
Defining results that should be considered for return required input from clinicians with relevant expertise and much deliberation. The RROC identified two sex chromosomal anomalies, Klinefelter Syndrome and Turner Syndrome, as well as homozygosity for Factor V Leiden, as findings that could warrant reporting. Views about returning HFE gene mutations associated with hemochromatosis were mixed due to low penetrance. Review of EMRs suggested that most participants with detected abnormalities were unaware of these findings. Local considerations relevant to return varied and, to date, four sites have elected not to return findings (return was not possible at one site).
Conclusion
The eMERGE experience reveals the complexity of return of results decision-making and provides a potential deliberative model for adoption in other collaborative contexts.
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). Multivariate analyses revealed that Cluster B symptoms were significantly associated with AUDs above and beyond what was accounted for by personality traits. Further, the authors found differential patterns of relations between other substance use disorders (SUDs; i.e., tobacco dependence and drug use diagnoses) and personality disorder symptoms. Overall, these results suggest that personality disorder symptoms predict unique variance in SUDs that reflect maladaptive aspects of personality traits.
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.
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