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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Genomic counseling: next generation counseling.

Rachel Mills1, Susanne B Haga

  • 1Institute for Genome Sciences & Policy, Duke University, 304 Research Drive, North Building, Room #227, Box 90141, Durham, NC, 27708, USA, r.mills@duke.edu.

Journal of Genetic Counseling
|September 13, 2013
PubMed
Summary

Genetic counselors must evolve to "genomic counselors" to meet the demands of personalized medicine and genome-based testing for disease prevention. This requires a proactive, directive approach focusing on complex diseases and risk reduction strategies.

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Area of Science:

  • Genomics
  • Personalized Medicine
  • Clinical Genetics

Background:

  • Personalized medicine is expanding due to advances in genome-based testing.
  • Genome-based testing offers new diagnostic and risk assessment opportunities.
  • These advances pose challenges to current clinical delivery models.

Purpose of the Study:

  • To describe the necessary evolution of genetic counseling to genomic counseling.
  • To outline the shift from single-gene to complex disease testing.
  • To highlight the expanded roles of genomic counselors in health promotion.

Main Methods:

  • Conceptual analysis of the evolving landscape of genetic testing.
  • Review of the implications of genome-based testing for clinical practice.
  • Identification of required skill set and counseling approach changes.

Main Results:

  • A shift from reactive, single-gene testing to proactive, genome-based testing for complex diseases is occurring.
  • Counselors must address risks for multiple diseases, including those with weak associations.
  • Genomic counselors will adopt more directive approaches and focus on health promotion.

Conclusions:

  • Genetic counselors must transition to genomic counselors to effectively support personalized medicine.
  • This transition necessitates enhanced knowledge of complex diseases and risk-reducing behaviors.
  • The expanded role includes proactive health promotion for disease prevention.