Newborn screening in the genomics era

Newborn screening (NBS) exists in every state for the purpose of testing newborns for genetic medical conditions that can be severe, may be treatable, and are often not clinically evident at birth. While almost all of the diseases screened for in newborns have underlying genetic causes, NBS in its current form is performed not by testing for genetic mutations, but by testing for biochemical markers that indicate a disorder. The potential use of whole-genome newborn screening (WG-NBS) as an alternative to the current biochemical testing utilized for NBS would dramatically expand the quantity and types of information parents could learn from screening and is likely to have many implications, both positive and negative. As whole-genome sequencing (WGS) becomes more economical, it probably will be used for the purposes of NBS. However, such an expansion of NBS would contradict many of the principles that have historically guided public health screening programs and, if implemented without sufficient preparation, could result in insufficient infrastructure to accommodate the health care and data management needs that would arise. This article will first look at the past and present of NBS, then the rise of whole genome sequencing, before considering the challenges of WG-NBS, and will end with some thoughts on the path forward.     

Labor Rights for All? The Role of Undocumented Immigrant Status for Worker Claims Making

Drawing on forty-one interviews with both documented and undocumented Latino restaurant workers in San Jose, California, and Houston, Texas, this article examines how documentation status shapes the legal consciousness of immigrant workers. I identify three common narratives that undocumented workers provide to justify not making claims on workplace protection. First, I highlight that an ever-present fear of deportation inhibits any formal confrontation. Second, I demonstrate how undocumented status leaves undocumented immigrants with a particularly pragmatic and short-term understanding of their working life in the United States, rendering their working conditions temporary and endurable to them. Third, I expand Gordon and Lenhardt's (2008 ) discussion of the centrality of work to the American conception of citizenship. I reiterate that this particular sense of belonging is situated vis-à-vis other low-wage workers. These findings provide sociolegal scholars important theoretical contributions for crafting a research agenda on the role of undocumented status and legal mobilization.     

Two-Year Reliability of the Propensity for Abusiveness Scale

The Propensity for Abusiveness Scale (PAS; Dutton [1995a] J. Fam. Violence 10[2]: 203–221) has been shown to correlate with both physical and psychological abuse in a variety of samples including gay men, assaultive males, and male and female college students (Clift, 2001; Dutton et al., 2001). For the current study, 27 male and 37 female university students completed the PAS during the 1998–1999 and the 2000–2001 school years. A 2-year test–retest reliability coefficient of r = .851 was found for women and a reliability coefficient of r = .629 was found for men. The combined sample had a reliability coefficient of r = .774. Moderate test–retest reliability coefficients were also found for each of the subscales.     

The application of an automated allele concordance analysis system (CompareCalls) to ensure the accuracy of single-source STR DNA profiles

A powerful method for validating a scientific result is to confirm specific results utilizing independent methodologies and processing pathways. Thus, we have designed, developed and validated an automated allele concordance analysis system (CompareCalls, patent pending) that performs comparisons between two independent DNA analysis platforms to ensure the highest accuracy for allele calls. Application of this system in a quality assurance role has shown the potential to eliminate greater than 90% of the STR analysis required of a DNA data analyst. While this system is broadly applicable for use with any two independent STR analysis programs, either prior to or following human data review, we are presenting its application to data generated with the ABI Prism Genotyper software system versus data generated with the SurelockID system. With the automated allele concordance analysis system, the GeneScan DNA fragment data generated from an ABI 377 gel image are analyzed in two independent pathways. In one analysis pathway, the GeneScan data are imported into Genotyper software where STR labels are assigned to the fragment data based upon the criteria of the Kazam 20% macro. The "Kazam" macro provided with the Genotyper program works by labeling all peaks in a category (or locus) and then filtering (or removing) the labels from peaks, such as those in stutter positions, that meet predefined criteria. In the second pathway, the GeneScan data are imported into the SurelockID analysis platform where STR labels and error messages are assigned to the fragment data based upon hard-coded allele calling criteria and quality parameters. The resulting STR allele calls for each analysis platform are then compared, utilizing the automated allele concordance analysis system. Any differences in the STR allele calls between the two systems are flagged in a discordance report for further review by a qualified DNA data analyst. The automated allele concordance analysis system guides the DNA data analyst to the discordant data generated by either analysis platform. Additionally, the analyst is also directed to data that are of less than pristine quality which may have an increased potential for errors in interpretation by either analysis platform or by a human DNA data analyst. Implementation of an automated allele concordance analysis system will yield high-quality data for CODIS and free the human DNA data analyst to perform other critical duties within the laboratory.     

Characteristics of individuals petitioned for civil commitment

This article explores the demographic and criminal characteristics of a group of sex offenders currently residing in a facility for civilly committed sex offenders. Legal and clinical records were used and data coded. This sample is compared to published data on a group of civilly committed sex offenders in another state. Results indicated that there were numerous similarities and some differences between the two groups. Further research needs to be conducted on civilly committed sex offenders in other states to better understand this population.     

A comparison of adjustment methods to test the robustness of an STR DNA database comprised of 24 European populations

An aim of the European Network of Forensic Science Institutes (ENFSI) is to produce a DNA database of second generation multiplex (SGM) STR profiles that is representative of the resident cosmopolitan populations. To achieve this, data were collected from 24 different populations. All of the data were combined to form one database of 5700 profiles from which allele proportions were calculated. The robustness of this combined European database was tested by estimating parameter d for every DNA profile, where d=log(10)(Pm(c)/Pm(E)) Pm(c) is the match probability of the profile calculated from its cognate database and Pm(E) is the match probability of the combined European database. Overall there was a small tendency for Pm(c)>Pm(E) primarily because of sampling bias. This bias was removed by the simple expediency of applying an adjustment factor to the calculation of Pm(E). These were selected from the Balding size bias correction, the Balding and Nichols Fst correction, a minimum allele proportion (between 0.01 and 0.02), an upper bound of a 95% confidence interval (CI) and a lower bound on the genotype match probability. It was demonstrated that a single European database is a feasible proposition. A combination of different adjustment methods can be used to ensure that the result is conservative relative to the cognate database, and their effect measured by parameter d.     

Attachment cognitions and college and work functioning two years later in late adolescent women

This longitudinal study of 134 female high school seniors investigated the relationship between attachment cognitions and school and work functioning two years later. School functioning was indexed by interviewer-rated strain, stressful events, academic performance, and self-reported attitudes toward college. Work functioning was indexed by interviewer-rated strain, stressful events, and self-reported attitudes toward work. Attachment cognitions were found to be correlated with school strain, number and stress of school-related events as well as self-reported satisfaction, stress, and problems meeting deadlines. Attachment cognitions were found to be correlated with work strain, work satisfaction, tendency to overcommit, and performance anxiety. Most of these relationships persisted even when initial symptomatology was accounted for. These findings lend support to the hypothesis, derived from attachment theory, that secure attachment cognitions provide a secure base that allows the late adolescent to negotiate the challenges of college and work successfully.This research was supported by a PHS National Research Service Award to the first author, and by a grant from the W. T. Grant foundation to the second.Postdoctoral fellowDoctoral candidate