GENETIC HEALTH PROFESSIONALS
There are several genetic health professionals in the medical specialty of medical genetics:
· MD Clinical Genetics:
A clinical geneticist is an individual who provides comprehensive genetic diagnostic, management, therapeutic, and counseling services.
· PhD Medical Genetics:
A Ph.D. Medical Geneticist is an individual who provides comprehensive genetic diagnostic, management, and counseling services, as well as expertise in complex risk assessments and in the synthesis of clinical and genetic information.
· Clinical Biochemical Genetics:
A clinical biochemist is an individual who performs and interprets biochemical analyses relevant to the diagnosis and management of human genetic diseases and who acts as a consultant regarding laboratory diagnosis of a broad range of biochemical genetic disorders.
· Clinical Cytogenetics:
A clinical cytogeneticist performs and interprets cytogenetic analyses pertinent to the diagnosis and management of human genetic diseases and who acts as a consultant regarding laboratory diagnosis for a broad range of cytogenetic disorders, including inherited and acquired conditions.
· Clinical Molecular Genetics:
A clinical molecular geneticist performs and interprets molecular analyses pertinent to the diagnosis and management of human genetic diseases and who can act as a consultant regarding laboratory diagnosis of a broad range of molecular genetic disorders.
· Genetic Counselors:
A genetic counselor performs services to aid in diagnostic, management, therapeutic, and counseling services that are pertinent to genetic diseases.
TYPES OF GENETIC TESTS
There are six categories of clinical genetic tests: 1) diagnostic, 2) predictive, 3) carrier, 4) prenatal, 5) preimplantation, and 6) newborn screening.
The different categories of genetic testing can be defined in the following ways:
· diagnostic: can confirm or rule out a possible genetic disorder in a symptomatic individual
· predictive: testing asymptomatic individuals where there is a family history of a genetic disorder. There are two sub-categories of predictive testing: 1) presymptomatic and 2) predispositional. Presymptomatic means that if a person has the disease gene he or she will definitely eventually have symptoms. Predispositional means that if a person has the disease gene he or she is likely to develop symptoms.
· carrier: usually does not have symptoms of disorder but either have family members who are affected or carriers of disorder; also in cases of populations of people who have a high carrier rate of particular condition. The testing is detecting the presence or absence of a gene mutation in an autosomal recessive or X-linked recessive disease.
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