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Genomic counseling is the process by which a person gets informed about his or her genome often in the setting of elective genetic and genomic testing. In contrast to genetic counseling, which focuses on Mendelian diseases and typically involves person-to-person communication with a genetic counselor or other medical genetics expert, genomic counseling is not limited to currently clinically relevant information. It is often based on genomic information that is of interest for the informed person, such as increased risk for common complex disease that has actionable components (for example diabetes or obesity), genetically determined non-disease related traits (for example baldness), or recreational forms of information and genetic genealogy data. An individual's response to certain medications/drugs based on their pharmacogenomic profile may be provided.
The need for genomic counseling is currently driven by personal genomics companies, including 23andMe, Helix, and Pathway Genomics. Given the wealth and complexity of 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 genetic counselors and 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 test results.[2][3]
- ^ Check Hayden, Erika (2009). "Genome sequencing: The third generation". Nature. 457 (7231): 768–9. doi:10.1038/news.2009.86. PMID 19212365.
- ^ Guttmacher, Alan E; McGuire, Amy L; Ponder, Bruce; Stefánsson, Kári (2010). "Personalized genomic information: Preparing for the future of genetic medicine". Nature Reviews Genetics. 11 (2): 161–5. doi:10.1038/nrg2735. PMID 20065954. S2CID 8838423.
- ^ Guttmacher, Alan E; Porteous, Mary E; McInerney, Joseph D (2007). "Educating health-care professionals about genetics and genomics". Nature Reviews Genetics. 8 (2): 151–7. doi:10.1038/nrg2007. PMID 17230201. S2CID 205483342.