What is a genetics specialist and what do they do?
A genetics specialist, also called a geneticist, is a medical doctor who focuses on the study, research and diagnosis of hereditary disorders and their genetic origins. Conditions that call for a geneticist include birth defects, developmental problems (Down syndrome
, Marfan syndrome
, metabolic disorders, cancer genetics and prenatal diagnoses.
What kind of training does a genetics specialist undergo?
Geneticists are typically medical doctors trained in internal medicine. They complete a fellowship in genetics and, after passing the specialty examination, become board-certified geneticists. They typically practice in an academic environment (a hospital with research capabilities) and may conduct research in a genetics laboratory.
A genetics physician is trained to diagnose patients with genetic problems or diseases, and prescribe therapeutic treatments for patients, some of which may be experimental. Tests include cytogenetic, radiographic and biochemical. These tests may provide individualized genetic counseling to patients, as well as determine the therapy needed to intervene and cure or lessen symptoms. Geneticists also seek to prevent disease and genetic conditions by providing prenatal diagnosis. A geneticist may manage screenings in eggs and unborn infants to detect metabolic disorders, hemoglobinopathies, chromosome abnormalities and neural tube problems.
What is the future of genetic medicine?
There is a growing movement in medicine to approach medical problems such as diabetes, Parkinsonism and Alzheimer's with gene therapy. It is still in the experimental stages and a long way off from being integrated into medical practice, but may one day become a mainstream treatment.
What kind of genetic screenings are sometimes conducted on eggs before in vitro fertilization?
Screenings may be available to learn about illnesses known to be passed from parent to child. Some conditions cannot be tested for, because their pattern of inheritance is too complex and environmental factors may be involved. However, certain diseases with a known pattern of inheritance may be discovered with genetic testing. Such disorders might include disorders of metabolism (a large family of diseases), sickle-cell disease, Huntington’s disease, hemophilia and cystic fibrosis. For more information, please refer to Gene Tests
at NCBI, the National Society of Genetic Counselors Web site
, the My Family Health Portrait
from the National Institutes of Health and the Public Health Genomics site
at the Centers for Disease Control and Prevention. A geneticist is typically available to screen eggs at a fertility clinic – either as a doctor on staff or as a consultant outside the clinic – for major genetic problems, including missing or broken chromosomes.
What can genetic testing reveal?
Other than providing a diagnosis and predicting diseases, genetic tests can determine:
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- Whether a patient carries gene mutations for disorders that may be passed on to children
- The health of a fetus (if it’s at risk for inheriting a disorder or condition)
- Problems in fertilized eggs before implantation
- Whether newborns are at risk for genetic disorders that should be treated immediately