The benefits, the limitations, the preparation
What exactly is genetic counseling? The American Society of Human Genetics adopted the following definition in 1975:
Genetic counseling is a communication process which deals with the human problems associated with the occurrence, or the risk of an occurrence, of a genetic disorder in the family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to (1) comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; (3) understand the alternatives for dealing with the risk of occurrence; (4) choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, to act in accordance with that decision; and (5) to make the best possible adjustment to the disorder in an affected family member and/or the risk of recurrence of that disorder.
Consideration of genetic counseling should not be limited cousin couples; It can be tremendously valuable to any couple who is contemplating starting a family. Couples who descend from specific ethnic groups, for whom the genetic risks equal the risk for cousin couples, might also want to schedule an appointment. Likewise, anyone who has a family history of ovarian, breast, uterine or colon cancers should give counseling serious thought.The Limitations:
Perhaps the most important benefit of genetic counseling is knowledge. Knowledge not only gives a couple peace of mind in the best of circumstances, it also gives a couple empowerment to take charge of their lives, and the ability to make informed decisions if the results are less than desirable.
In most cases, a thorough review of your family’s medical history by a qualified geneticist can determine any elevated risks a couple may have. In some instances, however, blood tests may be recommended to ensure the couple does not share a deletarious gene. If the mother is already pregnant, prenatal screenings may include amniocentesis and ultrasound to ensure that the fetus is developing properly. Neo-natal screenings once the baby has arrived help to monitor the child’s health and provide early detection of any conditions which may arise.
Despite the value of risk evaluation, there can not be an absolute guarantee of giving birth to a healthy child. There are 80,000 gene locations in the human genome, of which first cousins share 10,000 in common. It is therefore critical that a couple obtains the most detailed medical history possible on all ascendents in their families for at least three previous generations. A more complete report allows a genetic counselor to evaluate risks for conditions which may have gone overlooked otherwise.Preparation:
Amniocintesis has its own limitations, and its own risks. The test is most often recommended for women whose children are at higher risk for certain chromosomal disorders because of age, or the history of such a condition existing. Before submitting to amniocentesis, a couple should instructed regarding the risks of the proceedure.
Suggestions provided by Jacquelyn Krogh, GCBefore visiting a genetic counselor or medical geneticist you should try to obtain information and hopefully medical records on any conditions in your family history. A release of information would need to be signed by the person with the condition or their guardian to obtain specific medical records from a hospital or private doctor. Try to get the name of tests done even if the results were normal, because that will help tell medical geneticists what the condition is not. Pictures of the person with the condition may help a doctor to diagnose a genetic condition and may be helpful to bring.
If your medical coverage requires a request from your primary doctor you should get that in advance. Most allow three visits from one request which should be adequate, at least initially. Try to find out which commercial laboratory your plan requires or prefers in case there are any screening tests that would be recommended.
Try to see a genetic counselor before you become pregnant!!! We can still be helpful if you are already pregnant. There are also fairly new screening tests for newborns and infants which also may be recommended by a genetic counselor.
When a couple first visits a genetic counselor we will probably start with a detailed family history which we document the family "tree" on paper using symbols like squares and circles. Some
genetic counselors work with medical geneticists who are physicians trained in human genetics. Any medical records may be reviewed by the genetic counselor and/or the medical geneticist. Another visit may be needed if we need more records or need to review any literature. You may also want to schedule a visit to get the results of any blood tests recommended by the genetic counselor.
To find genetic counseling services in your area, you could contact your state’s health department should have a genetic services branch which should direct you, try your local chapter of the March of Dimes, or try the National Society of Genetic Counselors (NSGC) at 610-872-7608, web site (nsgc.org).
Try to find a genetic counselor who is board certified or board eligible by the American Board of Genetic Counseling. Also medical geneticists are certified by the American Board of Medical Genetics.
If your primary physician referred you to the genetic counselor, results of any tests are supposed to also be sent to him/her. If for whatever reason, you really don’t want that to happen, you can see if your medical coverage can allow you to self-refer or you could discuss this issue with your genetic counselor.
© 2000 Christie Schuler Smith for CUDDLE International and CousinCouples.com