Genomic counseling

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Genomic counseling is the process by which a person gets informed about his or her genome. In contrast to genetic counseling, which focuses on Mendelian diseases and typically involves person-to-person communication with a medical genetics expert, genomic counseling is not limited to currently clinically relevant information and includes other genomic information that is of interest for the informed person, such as increased risk for complex disease (for example diabetes or obesity), genetically determined non-disease related traits (for example baldness), or genetic genealogy data. Given the less sensitive nature of this information, genomic advice can be given impersonally, for example over the internet (virtual genomic counseling).

The need for genomic counseling is currently driven by personal genomics companies, including 23andMe, Navigenics,, deCODEme, and Pathway Genomics. Given the wealth and complexity of genomic information obtained by personal genomics tests, genomic counseling can require expertise from a wide range of experts, including physicians, geneticists, molecular biologists, evolutionary biologists, population geneticists, statisticians, or bioinformaticians. Access of consumers to complete personal genomes through cheap full genome sequencing is likely to exacerbate this problem in the near future.[1] There are currently not enough clinical geneticists to help patients interpret whole-genome sequencing results regarding health-relevant information, and research shows that primary-care physicians lack the knowledge and expertise to help patients understand even single-gene genetic test results.[2][3]


  1. ^ Hayden, E: "Genome sequencing: the third generation", Nature, 12 February 2009;457(7231):768-9
  2. ^ Guttmacher AE, McGuire AL, Ponder B and Stefansson K: "Personalized genomic information: preparing for the future of genetic medicine", Nature Reviews Genetics 11, 2010 Feb;161-165
  3. ^ Guttmacher AE, Porteous ME, McInerney, JD: "Educating health care professionals about genetics and genomics", Nature Reviews Genetics 8, 2007;151-157

Further reading[edit]

  • Clarke A. and Thirlaway K., "'Genomic counseling'? Genetic counseling in the genomic era", Genome Medicine 3:7, 2011.
  • Sweet K and Michaelis R. "The Busy Physician's Guide to Genetics, Genomics and Personalized Medicine". SpringerLink Scientific Press. May, 2011.