Personal Health Data: Access and Perceived Value in Denmark.

This study explores how accessible and valuable Personal Health Data are in Denmark. This paper uses a qualitative inquiry which was adopted to provide information about (1) the accessibility of data available, (2) and the perceived value of data by recruiting 8 healthy Danish individuals who were instructed to access their personal health data, and were then prompted to discuss how accessible and valuable they perceived their personal health data to be. In total, participants accessed 31 datasets and wearable sensor data through 23 web applications and 8 mobile applications. They reported on search and access challenges in interviews and through journaling. Our results suggest that participants were satisfied with the access they had to their personal health data, however the participants expressed disappointment in ways the data was presented for them by the services and platforms. Thus, we concluded that the perceived value of personal data were found to be dependent on the usability and personalization features of the services, rather than on the data itself.

A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1.

There are currently 13 diseases known to be caused by unstable triplet repeat mutations; however, there are some instances (as with FRAXF and FRA16) when these mutations appear to be asymptomatic. In a search for polymorphic CTG repeats as candidate genes for bipolar disorder, we screened a genomic human chromosome 18-specific library and identified a 1.6 kb clone (7,6A) with a CTG24 repeat that maps to 18q21.1. The CTG repeat locus, termed CTG18.1, is located within an intron of human SEF2-1, a gene encoding a basic hellx-loop-hellx DNA binding protein involved in transcriptional regulation. The CTGn repeat is highly polymorphic and very enlarged alleles, consistent with expansions of up to CTG2100, were identified. PCR and Southern blot analysis in pedigrees ascertained for a Johns Hopkins University bipolar disorder linkage study and in CEPH reference pedigrees revealed a tripartite distribution of CTG18.1 alleles with stable alleles (CTG10-CTG37), moderately enlarged and unstable alleles (CTG53-CTG250), and very enlarged, unstable alleles (CTG800-CTG2100). Moderately enlarged alleles were not associated with an abnormal phenotype and have a combined enlarged allele frequency of 3% in the CEPH and bipolar populations. Very enlarged alleles, detectable only by Southern blot analysis of genomic digests, have thus far been found in only three individuals from our bipolar pedigrees, and to date, have not been found in any of the CEPH reference pedigrees. These enlarged alleles may arise, at least in part, via somatic mutation.