Description

Medical Genetics

The job of the medical geneticist is to recognize genetic
disorders and birth defects, to understand the significance of these with
respect to the well-being of the patient, to arrange for proper treatment, and
perhaps most important, to help the patient and/or the patient’s family
understand and cope with the disorder. This specialist uses modern cytogenetic,
radiologic, and biochemical testing to assist in specialized genetic
counseling, implements needed therapeutic interventions, and provides prevention
through prenatal diagnosis. A medical geneticist plans and coordinates large
scale screening programs for inborn errors of metabolism, hemoglobinopathies,
chromosome abnormalities, and neural tube defects. Some medical geneticists
work primarily with infants and children. Other medical geneticists, often
those who are first trained as obstetricians, concentrate on the genetic
problems of fetuses. Internists with training in medical genetics work with
adult patients who may have familial forms of heart disease, cancer, or
neurological disease. There are also ophthalmologists, dermatologists, and
pathologists who are medical geneticists. Great strides are being made in many
areas of human genetics, leading to deeper understanding of the basic functions
of genes. Such technologic advances also give rise to new methods of diagnosis
and treatment. An increasingly important role of the medical geneticist is to
act as the link between scientists who are making these technologic advances
and patients who may benefit from them.