Genetic counseling is a comunication proces which the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in family. This process involves and attempt by one or more appropiatel, trained person to help the individual.
What are genetic counselors ?
Genetic counselors are health professionals with specific graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nurzing, psychology, public health and social network.
Genetic counselors work as members of a healthcare team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited condition. They identify families at risk, investigate the problem present in the family, inteprete information about the disorder, analyze patterns and risks of recurrence, and review available options with the family.
What is genetic testing?
A genetic test is the analysis of human DNA, RNA, chromosomes, protein, or certain metabolites in order to detect alterations related to a heritable disorder. This can be accomplished by directly examining the DNA or RNA that make up a gene (direct testing), looking at markers co-inharited with a disease-causing gene (linkage testing), assaying certain metabolites (biochemical testing), or examining the chromosomes (cytogenetic testing).
Selected methodology terms are used in the Gene Tests Laboratory Directory. Although genetic testing shares some features in common with other kinds of laboratory testing, in many ways it is unique and requires special consideration :
Points to consider :
* Genetic testing may be used for medical management and for personal decision-making.
* Genetic test result usually apply not only to the patient but also to other family members.
* Genetic testing may be performed in the context of a genetics consultation and should be informed consent, test interpretation, and follow up medical and psychosocial service as indicated.
* Because most genetic disorders are rare, genetic testing is often done only by specialized laboratories.
* Intense research efforts in molecular genetics result in rapid development and availability of new genetic test; therefore, healthcare providers need to continously update their knowledge.
* In order for genetic testing to yield meaningful result :
a. multiple test methodologies may be required
b. other family members may need to be tested
c. a genetic consultation may be appropiate
