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People generally underestimate their own vulnerability to negative events such as illness or accidents. It has been suggested that this illusion of "unique invulnerability" is due to selective focus on one's own risk-reducing behaviors, to the exclusion of others' risk-reducing behaviors and one's own risk-increasing behaviors. The current study examined the effects of reviewing sexual and contraceptive behavior on perceived vulnerability to unplanned pregnancy. Our results indicated that review of pregnancy-related behaviors decreased perceived vulnerability among two groups of subjects: those who considered unplanned pregnancy to be most undesirable and those who had the most confidence in the efficacy of their contraceptive behavior. The data also support the hypothesis that selective focus is a source of the illusion of invulnerability.

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Background: Repeat expansion (RE) disorders affect ~1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in under diagnosis of atypical clinical presentations, especially in paediatric patients without a prior positive family history. Whole genome sequencing (WGS) is emerging as a first-line test for rare genetic disorders, but until recently REs were thought to be undetectable by this approach. Methods: WGS pipelines for RE disorder detection were deployed by the 100,000 Genomes Project and Illumina Clinical Services Laboratory. Performance was retrospectively assessed across the 13 most common neurological RE loci using 793 samples with prior orthogonal testing (182 with expanded alleles and 611 with alleles within normal size) and prospectively interrogated in 13,331 patients with suspected genetic neurological disorders. Findings: WGS RE detection showed minimum 97.3% sensitivity and 99.6% specificity across all 13 disease-associated loci. Applying the pipeline to patients from the 100,000 Genomes Project identified pathogenic repeat expansions which were confirmed in 69 patients, including seven paediatric patients with no reported family history of RE disorders, with a 0.09% false positive rate. Interpretation: We show here for the first time that WGS enables the detection of causative repeat expansions with high sensitivity and specificity, and that it can be used to resolve previously undiagnosed neurological disorders. This includes children with no prior suspicion of a RE disorder. These findings are leading to diagnostic implementation of this analytical pipeline in the NHS Genomic Medicine Centres in England.

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