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 Classical, Vascular (VEDS), Kyphoscoliosis, Arthrochalasia and Dermatosparaxis Types. If these types of EDS are suspected based on the clinical findings, the geneticist or your physician 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 and the geneticist will meet with the patient or family to discuss the results and implications of the new findings.

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