American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.

Genomic testing, including single-nucleotide polymorphism-based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband's parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific p-arental relationship. It is designed to guide the documentation of suspected consanguinity by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel.

Ethical issues relevant to the assessment of suicide risk in nonclinical research settings.

BACKGROUND: Our laboratory recently confronted this issue while conducting research with undergraduate students at the University of Waterloo (UW). Although our main objective was to examine cognitive and genetic features of individuals with schizotypal personality disorder (SPD), the study protocol also entailed the completion of various self-report measures to identify participants deemed at increased risk for suicide. AIMS AND METHODS: This paper seeks to review and discuss the relevant ethical guidelines and legislation that bear upon a psychologist's obligation to further assess and intervene when research participants reveal that they are at increased risk for suicide. RESULTS AND CONCLUSIONS: In the current paper we argue that psychologists are ethically impelled to assess and appropriately intervene in cases of suicide risk, even when such risk is revealed within a research context. We also discuss how any such obligation may potentially be modulated by the research participant's expectations of the role of a psychologist, within such a context. Although the focus of the current paper is on the ethical obligations of psychologists, specifically those practicing within Canada, the relevance of this paper extends to all regulated health professionals conducting research in nonclinical settings.

Decomposing perseverative errors among undergraduates scoring high on the Schizotypal Personality Questionnaire.

Cognitive control (CC), the capacity to flexibly direct resources to a goal by selecting and integrating relevant contextual information, is impaired among persons with schizophrenia-spectrum disorders. CC is achieved, in part, through shifting one's cognitive set towards stimuli of task relevance. Set-shifting deficits typically result in perseverative errors, like those captured by the Wisconsin Card Sorting Test (WCST). However, a disadvantage of the WCST is that it confounds the potential sources of perseverative errors. The Dimensional Change Card Sorting Task (DCCS), in contrast, allows for the decomposition of perseverative errors by systematically varying the shape and/or color of stimuli across pre-switch, switch and post-switch trials. Using these techniques previous research has evaluated the separable contributions of negative priming, positive priming, and extra dimensional shifting to the production of perseverative errors. In the current study, college students scoring high on the Schizotypal Personality Questionnaire (High-SPQ; Raine, A., 1991. The SPQ: a scale for the assessment of schizotypal personality based on DSM-III-R criteria. Schizophr. Bull. 17 (4), 555-564.) and average scoring individuals (Ave-SPQ) were administered the DCCS to investigate schizotypal-related mechanisms underlying set-shifting abnormalities. Relative to Ave-SPQ, High-SPQ participants showed more perseverative responses that were restricted to the positive priming post-switch condition. Possible mechanisms of this impairment, including depletion of cognitive resources and differences in strategy commitment, are discussed.

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder marked by hamartoma growth in multiple organ systems. We performed mutational analyses on 325 individuals with definite tuberous sclerosis complex diagnostic status. We identified mutations in 72% (199/257) of de novo and 77% (53/68) of familial cases, with 17% of mutations in the TSC1 gene and 50% in the TSC2 gene. There were 4% unclassified variants and 29% with no mutation identified. Genotype/phenotype analyses of all observed tuberous sclerosis complex findings in probands were performed, including several clinical features not analyzed in two previous large studies. We showed that patients with TSC2 mutations have significantly more hypomelanotic macules and learning disability in contrast to those with TSC1 mutations, findings not noted in previous studies. We also observed results consistent with two similar studies suggesting that individuals with mutations in TSC2 have more severe symptoms. On performing meta-analyses of our data and the other two largest studies in the literature, we found significant correlations for several features that individual studies did not have sufficient power to conclude. Male patients showed more frequent neurologic and eye symptoms, renal cysts, and ungual fibromas. Correlating genotypes with phenotypes should facilitate the disease management of tuberous sclerosis complex.