Genomic counseling
Encyclopedia
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. 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.
Genome
In modern molecular biology and genetics, the genome is the entirety of an organism's hereditary information. It is encoded either in DNA or, for many types of virus, in RNA. The genome includes both the genes and the non-coding sequences of the DNA/RNA....
. In contrast to genetic counseling
Genetic counseling
Genetic counseling or traveling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning...
, 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
Obesity
Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems...
), genetically determined non-disease related traits (for example baldness
Baldness
Baldness implies partial or complete lack of hair and can be understood as part of the wider topic of "hair thinning". The degree and pattern of baldness can vary greatly, but its most common cause is male and female pattern baldness, also known as androgenic alopecia, alopecia androgenetica or...
), or genetic genealogy
Genetic genealogy
Genetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals.-History:...
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
Personal genomics
Personal genomics is the branch of genomics concerned with the sequencing and analysis of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism analysis chips , or partial or full genome sequencing...
companies, including 23andMe
23andMe
23andMe is a privately held personal genomics and biotechnology company based in Mountain View, California that is developing new methods and technologies that will enable consumers to understand their own genetic information...
, Navigenics
Navigenics
Navigenics, Inc. is a privately held personal genomics company, based in Foster City, California, that uses genetic testing to help people determine their individual risk for dozens of health conditions....
, deCODEme, and Pathway Genomics
Pathway Genomics
Pathway Genomics is a privately held personal genomics company based in San Diego, California. Using DNA genetic testing technologies, the company conducts services to generate personalized reports about an individual’s carrier status, drug response, propensity for the development of certain...
. 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
Full genome sequencing
Full genome sequencing , also known as whole genome sequencing , complete genome sequencing, or entire genome sequencing, is a laboratory process that determines the complete DNA sequence of an organism's genome at a single time...
is likely to exacerbate this problem in the near future. 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.
Further readings
- 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.