Decision-making about genetic health information among family dyads: a systematic literature review.

Decisions involving two individuals (i.e., dyadic decision-making) have been increasingly studied in healthcare research. There is evidence of bi-directional influences in decision-making processes among spousal, provider-patient and parent-child dyads. Genetic information can directly impact biologically related individuals. Thus, it is important to understand dyadic decision-making about genetic health information among family members. This systematic literature review aimed to identify literature examining decision-making among family dyads. Peer-reviewed publications were included if they reported quantitative empirical research on dyadic decision-making about genetic information, published between January 1998 and August 2020 and written in English. The search was conducted in 6 databases and returned 3167 articles, of which 15 met the inclusion criteria. Most studies were in the context of cancer genetic testing (n = 8) or reproductive testing or screening (n = 5). Studies reported two broad categories of decisions with dyadic influence: undergoing screening or testing (n = 10) and sharing information with family (n = 5). Factors were correlated between dyads such as attitudes, knowledge, behaviors and psychological wellbeing. Emerging evidence shows that dyad members influence each other when making decisions about receiving or sharing genetic information. Our findings emphasize the importance of considering both members of a dyad in intervention design and clinical interactions.

Comparative performance of the BGISEQ-500 and Illumina HiSeq4000 sequencing platforms for transcriptome analysis in plants.

BACKGROUND: The next-generation sequencing (NGS) technology has greatly facilitated genomic and transcriptomic studies, contributing significantly in expanding the current knowledge on genome and transcriptome. However, the continually evolving variety of sequencing platforms, protocols and analytical pipelines has led the research community to focus on cross-platform evaluation and standardization. As a NGS pioneer in China, the Beijing Genomics Institute (BGI) has announced its own NGS platform designated as BGISEQ-500, since 2016. The capability of this platform in large-scale DNA sequencing and small RNA analysis has been already evaluated. However, the comparative performance of BGISEQ-500 platform in transcriptome analysis remains yet to be elucidated. The Illumina series, a leading sequencing platform in China's sequencing market, would be a preferable reference to evaluate new platforms. METHODS: To this end, we describe a cross-platform comparative study between BGISEQ-500 and Illumina HiSeq4000 for analysis of Arabidopsis thaliana WT (Col 0) transcriptome. The key parameters in RNA sequencing and transcriptomic data processing were assessed in biological replicate experiments, using aforesaid platforms. RESULTS: The results from the two platforms BGISEQ-500 and Illumina HiSeq4000 shared high concordance in both inter- (correlation, 0.88-0.93) and intra-platform (correlation, 0.95-0.98) comparison for gene quantification, identification of differentially expressed genes and alternative splicing events. However, the two platforms yielded highly variable interpretation results for single nucleotide polymorphism and insertion-deletion analysis. CONCLUSION: The present case study provides a comprehensive reference dataset to validate the capability of BGISEQ-500 enabling it to be established as a competitive and reliable platform in plant transcriptome analysis.