Genetic Counseling Faces New Complexity in the NGS Era
This review examines how next-generation sequencing has fundamentally changed genetic counseling by generating simultaneous information on multiple genetic variants with different functional consequences. The authors discuss the challenges of variant interpretation at scale, managing incidental findings, data sharing in a big-data environment, and the need to rethink traditional counseling principles built around single-gene testing. For clinical laboratories offering NGS panels, the article highlights the essential downstream requirement for counseling infrastructure and interpretive expertise.
The original study
Principles of Genetic Counseling in the Era of Next-Generation Sequencing.
- Authors
- Yang M, Kim JW
- Journal
- Annals of laboratory medicine
- Type
- Journal Article, Review
- PMID
- 29611378
Original abstract
Traditional genetic counseling has focused on the target gene and its natural progress with respect to disease risk. Next-generation sequencing (NGS) can produce information on several genetic variants simultaneously, with different functions and consequences for each. Accordingly, determining the status of the patient or consultant and interpreting sequencing results from many genes can largely increase the complexity of genetic counseling. Moreover, the current environment of big data that can be readily shared via the internet and a ubiquitous network provides many different avenues for which a consultant must handle the traditional principle of genetic counseling in different ways. Thus, further consideration and rethinking of genetic counseling principles are necessary in the era of NGS. In this review, we discuss several aspects of genetic counseling that one can encounter when faced with NGS data.