Suchergebnisse

Interest in the familial aspects of disability has heightened in recent years. Three forms of disability—hearing loss, Fragile X syndrome, and autism spectrum disorders—are used here to illustrate the complex and rapidly evolving understanding of the meaning and nature of heritability and carrier status for disability. The authors raise six questions to address if the promise of genomic research leads to real benefits for families: (a) Is the public interested in carrier testing? (b) Who is responsible for carrier testing? (c) Is the public prepared to use genomic information? (d) Should genomic testing or information about testing be tailored to specific audiences or target populations? (e) What strategies can be used to enable informed decision‐making? (f) How will carrier testing affect family relationships and communication patterns? These and other factors will require a comprehensive analysis of the individual and societal implications for family relations in the genomic era.

<b><i>Background/Aims:</i></b> Recent genomic medicine initiatives underscore the importance of including diverse participants in research. Considerable literature has identified barriers to and facilitators of increasing diversity, yet disparities in recruiting and retaining adequate numbers of participants from diverse groups continue to limit the generalizability of clinical genomic research. <b><i>Methods:</i></b> The North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing study employed evidence-based strategies to enhance the participation of under-represented minority patients. In this study, we evaluate the impact of our efforts by systematically analyzing the "cascade" of attrition of participants throughout study interactions. <b><i>Results:</i></b> Although successful in recruiting a cohort that included ~30% non-Caucasian patients overall, the study still enrolled and retained a lower proportion of minorities compared to the pool of eligible patients who were nominated. We evaluated sociodemographic characteristics and related variables as potential factors associated with attrition throughout these phases of the study. <b><i>Conclusions:</i></b> These results suggest that varied approaches will be needed to increase participation in genomic medicine research. Our findings highlight factors to consider when developing strategies to address this critical need. Failing to include a broad range of populations in research studies will exacerbate existing disparities in the translation of genomic sequencing to medical care.