by: Terri Knutel, M.S.
Genetic Counselor
Evanston Hospital Evanston, Illinois

Genetic counseling is formally described as the communication process that deals with the occurance or risk of occurance of a genetic disorder in a family. Genetic counselors are medical professionals who have undergone specialized training in medical genetics and counseling. The largest percentage of these professionals are graduates of master's level genetic counseling and training programs. There are currenly 14 accredited programs in the United Staes. Individuals with master's degrees in other related disciplines, such as nursing and social work, who receive training in human genetics and genetic counseling may also enter the profession. A geneticist is a physician who has received further specialized training in genetics past the standard of residency program. Genetic counselors and geneticists often work together as a team to provide patients with the most comprehensive genetic services possible.

Genetic counselors work in a variety of settings, including pediateric, adult and reproductive (prenatal) genetics. Their services often involve clinical, educational, research and administrative responsibilites. In the clinical setting, the counselor strives to provide an accurate and empathtic presentation of all facts and options to the patient. This policy of nondirective counseling is an important tenet in the genetic counseling profession.

For individuals who have been diagnosed with a genetic condition such as Ehlers-Danlos Syndrome (EDS), the genetic counselor can be a valuable resource. At many genetic centers, the counselor's role is multifaceted. He or she may act as a resource for educational information about the diagnosis, as a psychosocial counselor for families in crisis, as a link to support services and groups, and as a coordinator for patient care.

With the advent of "molecular diagnostics", counselors are increasingly finding themselves assuming another role - that of liason between the patient and the genetic labratory. By using this technology, researchers are beginning the process of understanding the intricacies of many human genetic diseases, including how and why they occur. For several types of Ehlers-Danlos Syndrome, the abnormality seems to lie with the collagen molecule. Collagen is one of the molecules present in the connective tissues. By examining the structure of the collagen from a person with EDS, researchers may be able to determine the specific type of EDS that is present. This helps to serve as an adjunct to clinical diagnosis for many patients, since the physical symptoms of the codition may vary. In these situations, the genetic counselor is often responsible for explaining much of the technical information that is involved to patients and sometimes to other health professionals. This information often includes how the testing will beperformed, what will be involved, the types of results that can be expected, the cost, and the extimated time of completion. In addition, the counselor tries to gather all of the pertinent medical information, including medical records, family history and consent forms, that the laboratory often requires. Once the results are available, the genetic counselor and geneticist will often meet with the patient or family for additional discussion regarding the implications of the findings.

If you are interested in obtaining additional information, or if you wish to speak with a genetic counselor in your area, you can contact either the Ehlers-Danlos National Foundation, or your local chapter of the March of Dimes.

Ad Hoc Committee on Genetic Counseling. American Journal of Human Genetics, 27:240-241, 1975.