Genomic counseling

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. 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.

Typically, a family history is taken to more fully allow interpretation and incorporation of genomic data. Such an assessment is used to "identify and quantify" risk for inherited hereditary diseases. Whole genome sequencing and whole exome sequencing [WES] "may not provide full coverage of critical genes" and performing a risk assessment "allows the genetic team to generate a differential diagnosis and order more sensitive genetic testing if necessary".

"Whole genomes have gone from becoming that discovery technique to being present in the clinic on a regular basis". Genomic counseling sessions may include briefings on "general genetic principles, modes of inheritance, family/individual specific risk assessment, an in-depth discussion of the diagnosis and natural history, potential testing options, and case management for the condition occurring… or for which they are at risk". The delivery of such information should be aimed to the patient's level of comprehension and take into account his or her culture and other personal context.

Challenges in genetic counseling exists in both the decision and discussion of which incidental findings will be assessed and returned to patients. Patients may not be familiar with the condition and may be unable to make an informed opinion regarding the next steps in treatment. Genetic counselors and geneticists "already sit on interpretation panels for determining what warrants disclosure". This role will become "increasingly relevant for all genetic counselors" in order to ensure that all in the profession are "proficient in variant interpretation and understand the laboratory and bioinformatics processes" of such tests.

Qualifications for who can practice genomic counseling and what the practice will entail is up for debate as genetic counseling begins to incorporate genome counseling. A few changes that may see changes include the roles of risk assessments, education, and informed consent.

Telegenetics is "videoconferencing for clinical genetics services" and is becoming an "increasingly utilized method of delivering genetic counseling to rural areas".

Direct to consumer genetic testing (DTC GT) frequently utilizes telegenetics regardless of the client's "geographical location or ability to attend face-to-face sessions".