Is genetic counseling recommended for those diagnosed with EDS?
Genetic counselors are medical professionals who are trained in medical
genetics and counseling. They deal with the occurrence or risk of
occurrence of a genetic disorder in a family. They most often work in
conjunction with a medical geneticist (physician). They provide an
accurate presentation of the facts to a patient who has been diagnosed
or who is a known carrier of a genetic disorder. Most people find the
genetic aspect of the disorder confusing.
A genetic counselor will help you sift through the facts to gain a
better understanding of your inheritance pattern. They provide
nondirective counseling to those who are considering starting a family
to facilitate making an informed decision. They may act as a resource
for educational information about a disorder, as a psychosocial
counselor for families in crisis, as a link to support services/support
groups and as a coordinator for patient care.
Laboratory confirmation of certain types of Ehlers–Danlos syndrome is
possible. These include the Vascular, Kyphoscoliosis, Arthrochalasia
and Dermatosparaxis Types. If these types of EDS are suspected based on
the clinical findings, the geneticist or your phyisican may recommend
or offer laboratory confirmation.
The genetic counselor may be the liaison between the patient and the
genetic laboratory. In this role the counselor may be responsible for
explaining the technical information to patients and other health care
providers. The genetic counselor will most often be the person to
explain how the testing will be done, the costs involved and the
estimated length of time for test completion.
The tests involved are usually performed at highly specialized
laboratories. Because they are often not the center where a person is
being evaluated, the genetic counselor may also be responsible for
gathering all pertinent medical information such as medical records,
family history and consent forms. When lab results become available,
the genetic counselor as well as the geneticist will meet with the
patient or family to discuss the results and implications of the new