Managing incidental findings in human subjects research: analysis and recommendations.

No consensus yet exists on how to handle incidental findings (IFs) in human subjects research. Yet empirical studies document IFs in a wide range of research studies, where IFs are findings beyond the aims of the study that are of potential health or reproductive importance to the individual research participant. This paper reports recommendations of a two-year project group funded by NIH to study how to manage IFs in genetic and genomic research, as well as imaging research. We conclude that researchers have an obligation to address the possibility of discovering IFs in their protocol and communications with the IRB, and in their consent forms and communications with research participants. Researchers should establish a pathway for handling IFs and communicate that to the IRB and research participants. We recommend a pathway and categorize IFs into those that must be disclosed to research participants, those that may be disclosed, and those that should not be disclosed.     

Molecular characterization of a null allele at locus DXS8378

Typing of X-chromosomal short tandem repeat (STR) loci in a deficiency paternity case revealed a single Mendelian incompatibility between a female child and her putative grandmother, consisting of an opposite homozygosity at locus DXS8378. The presence of a null allele due to a primer binding site mutation on the child's paternally inherited X chromosome was confirmed by amplification with newly designed DXS8378 external primers. Sequencing analysis showed a point mutation (C > T transition at position 168, according to GenBank accession G08098) in the binding site of the original DXS8378 reverse primer.     

Blind validation of postmortem interval estimates using developmental rates of blow flies

This study evaluated the use of different degree day (DD) models, developmental thresholds and developmental data sources for estimating postmortem interval (PMI) based on developmental rates of blow flies (Diptera: Calliphoridae). Blow fly evidence was collected from three mock crime scenes and sent for blind analysis of PMI. PMI estimates were calculated using averaging, single sine, double sine, single triangle, and double triangle models of DD calculation with minimum developmental thresholds of 0, 6 and 10 °C and Anderson's, Byrd and Allen's, Greenberg's, Nishida's and Kamal's developmental data sets. These estimates were compared with the actual PMI to determine which combination of DD model, developmental threshold and developmental data provided the most accurate estimate. For all three cases, at least one method gave a PMI estimation that was within 1 day of the actual date of death. There was no variability between PMI estimated using the five models of DD calculation. Overall, as lower developmental threshold increased, the PMI interval estimates increased. Depending on the developmental data set used, increasing the lower developmental threshold caused some overestimations of the date of oviposition, with estimates given that were prior to the actual death. Future PMI estimates should include error ranges, so that overestimation of PMI is avoided.     

Y- STRs and forensic parameters in African populations

Short Tandem Repeat polymorphisms have been widely studied in the world, since specific databases are required to produce correct estimates of forensic statistical parameters. In this regard, Y-chromosome STRs have been studied mainly in Europe but are relatively scarce for sub-Saharan populations, despite these populations are represented in most of the Western countries. The aim of this work is to detect groups of populations with the lowest genetic variability within the African context. This allows to establish the relative homogeneity of Y-STRs databases for forensic casework and eventually to provide a wider insight into the African genetic history.     

Object-oriented Bayesian networks for paternity cases with allelic dependencies

This study extends the current use of Bayesian networks by incorporating the effects of allelic dependencies in paternity calculations. The use of object-oriented networks greatly simplify the process of building and interpreting forensic identification models, allowing researchers to solve new, more complex problems. We explore two paternity examples: the most common scenario where DNA evidence is available from the alleged father, the mother and the child; a more complex case where DNA is not available from the alleged father, but is available from the alleged father’s brother. Object-oriented networks are built, using HUGIN, for each example which incorporate the effects of allelic dependence caused by evolutionary relatedness.