Genomic Counseling: Next Generation Counseling
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PROFESSIONAL ISSUES
Genomic Counseling: Next Generation Counseling Rachel Mills & Susanne B. Haga
Received: 27 August 2012 / Accepted: 1 August 2013 # National Society of Genetic Counselors, Inc. 2013
Abstract Personalized medicine continues to expand with the development and increasing use of genome-based testing. While these advances present new opportunities for diagnosis and risk assessment, they also present challenges to clinical delivery. Genetic counselors will play an important role in ushering in this new era of testing; however, it will warrant a shift from traditional genetic counseling to “genomic counseling.” This shift will be marked by a move from reactive genetic testing for diagnosis of primarily single-gene diseases to proactive genome-based testing for multiple complex diseases for the purpose of disease prevention. It will also require discussion of risk information for a number of diseases, some of which may have low relative risks or weak associations, and thus, may not substantially impact clinical care. Additionally, genomic counselors will expand their roles, particularly in the area of health promotion to reduce disease risk. This additional role will require a style of counseling that is more directive than traditional counseling and require greater knowledge about risk reducing behaviors and disease screening.
Though genetic counselors are likely the most qualified to discuss genome-based testing with patients, the current practice paradigm was developed primarily for diagnosis of chromosomal abnormalities and single-gene diseases (Phimister et al. 2012) and therefore, would require additional training and modifications to the current service delivery model. A number of recent publications have highlighted some of the challenges associated with counseling for whole genome/ exome sequencing or direct to consumer (DTC) testing (Ashley et al. 2010; Middleton 2012; Riordan et al. 2012; Roberts et al. 2011; Sturm and Manickam 2012; Waxler et al. 2012; Corpas 2012; Darst et al. 2013). These case reports provide some insight on how genetic counseling will need to evolve to manage changes with respect to both scope and type of information to be communicated to the patient. In this paper, we explore some of the general challenges and differences in genomic counseling compared to traditional genetic counseling, and offer some suggestions to advance the field of genomic counseling to keep pace with the development of genome-based testing.
Keywords Genomic counseling . Genome-based testing . Practice development . Genomics . Whole genome sequencing . Direct-to-consumer testing
Genetic vs. Genomic Counseling
Introduction With the increasing availability and uptake of genome-based testing for individual risk assessments, a shift from traditional genetic counseling to what has been referred to as “genomic counseling” (Sturm and Manickam 2012) may be warranted. R. Mills (*) : S. B. Haga Institute for Genome Sciences & Policy, Duke University, 304 Research Drive, North Building, Room #227, Box 90
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