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The great strides in diagnostic and research technology have had a tremendous impact on genetic services. Notably the advent of Next Generation Sequencing has enabled genetics professionals to be of much more help to patients and caretakers than in the early years of DNA diagnostics. Yet, it hasn't become easier: gene discoveries in families who were out of sight for years or even decades, variants of unknown significance surfacing in disease genes or cancer risk factors, research findings with potential clinical significance in otherwise healthy study participants, the emergence of direct-to-consumer testing, what to do with findings relevant to family members or children?
In short, returning results has become a major focus of discussion and research. Different methods, findings and best practices of returning results in different situations, have received major attention over the past years in EJHG, and as a service to our readers we have collected these papers in this new Web Focus.
Wishing you interesting reading, and perhaps a few combinatorial insights.