Question: My husband insists that we be genetically tested to see if our baby would have any untreatable diseases if we get pregnant. I feel uncomfortable about this but he feels it’s the responsible thing to do. The testing is called the Genome Project. Do you have any insights about this?
Almine’s Answer: I’ll give a longer answer and for the shorter one, just skip to the conclusion. Here’s the medical community’s take on it: “The Genome Project gave us the ability for the first time to read nature’s complete genetic blueprint for building a human being.” (See www.genome. gov.)
Here’s a definition of what a genome is: The full set of genes that are the instructions to make an individual member of a certain species. The factors that go into the genetic programming of an individual are staggeringly complex. The resulting diversity is beneficial to societies by strengthening the cultural group and bringing creativity and a variety of strong suits.
There is a genome for every species on Earth – fauna, flora and even bacteria or viruses. The deciphering and knowledge of the human genome is in its infancy because of the variables and complexities involved. It was first decoded in 2001, and for the first time it gave a glimpse into the genetic information that goes into shaping a person.
Here are the problems with being too hasty to use it in determining if a pregnancy is a good idea:
- Every individual is a carrier of some untreatable serious conditions. Some of these genes provide a risk of actually contracting the disease of only 0.1%.
Scientists and doctors vary widely in their risk assessment. It is an extremely difficult matter to accurately convey the risk to a patient – often causing alarm where none should exist.
- Even when a professional, such as a genetic counselor who is trained to produce clear information, is consulted, the ability of the patient to understand is still in question. Each person interprets words such as ‘risk’ and ‘possibility’ differently. This phenomenon is particularly prevalent when dealing with highly emotional issues such as pregnancy.
Recently it was found that half of a large group of women misinterpreted an explanation (written for the general public) about tests for genes that make breast cancer more likely.
- Genetic Counseling is advocated as a way to help couples make informed decisions about generic risks. However, it raises many ethical questions: What if the subject tested for one condition is discovered to have a significant risk for another? Because of genome sequencing, many counselors will soon learn about thousands of conditions that were not expected and are not treatable.
In my opinion the genome project is still in its infancy and therefore not reliable enough for mainstream use, especially in the hands of physicians untrained in interpreting the results. I feel it should be employed only in the following aggravated cases during the initial stages if couples want to determine the feasibility of pregnancy:
. Individuals who have serious genetic conditions in their immediate family.
. Couples who have had several spontaneously disrupted pregnancies or stillbirths.
. Couples with infertility.
. Relatives inter-marrying.
. Women over 35 and men over 40.
The medical community is standing on the brink of what could be a valuable prognostic tool, if only they will have the wisdom not to abuse it by being premature and impatient.