With the increasing availability and complexity of genetic testing, it has become imperative for medical specialists to be fully aware of the limitations and risks included in offering a specific genetic test, as well as the importance of appropriate pre-test and post-test genetic counseling.
Genetic counseling is the stage at which it is evaluated whether a disease condition, actual or potential, is attributable to genetic mechanisms or not, and whether these, possibly, can be defined through specific tests.
The study of genetic diseases not only covers rare diseases, but is also interested in cancers (cancer genetics, especially for breast/ovarian, colon cancers, melanomas, etc.), cardiovascular pathology (e.g., thrombophilia, but also familial hypercholesterolemias, cardiomyopathies, etc.), ENT pathology (hearing impairments, etc.) and ophthalmology(e.g., retinitis).

The consultant geneticist works closely with other specialists to ensure that genetic testing is incorporated into the overall management of patients, ensures that the tests offered are truly indicated and appropriate to high quality standards.
Diagnostic pathways must have procedures to ensure timely reporting and communication of results. As with any medical test, expectations regarding the performance of a genetic test should be discussed with the patient before the test itself is performed (pre-test counseling), allowing patients time to reason about the information they receive and accept or not accept access to it based on truly informed consent. Counseling, both pre-test and post-test, should communicate information in a clear, objective and non-directive manner. In addition to tracking each patient’s personal genetic risk, possible risks to other family members and any children yet to come (reproductive risks) should also be considered and discussed.
A diagnostic definition is not only about the individual accessing the test. Each time it must be determined whether test results involve, and to what extent, blood relatives, because they affect the genetic makeup of an entire family and may affect and be reflected in future generations. The affective, ethical, legal, and social implications of these pathways account for the special delicacy of the doctor-patient relationship in this area.
Thus, the goals of genetic counseling have changed in recent decades: the original goal of preventing birth defects and genetic conditions and the important evolution of technological tools have been complemented by a focus on pursuing the best psychological adjustment by consultees to the information that may be given about a genetic condition or risk involving them and their families. For both goals, it is always stressed that people in counseling, once well informed, should make their own decisions independently, in terms of reproductive and/or with regard to their own life choices or diagnostic and treatment pathways.