It is a process in which a qualified professional shares information about genetic conditions. This information includes specifics about the condition in question, tests used to identify it, and help in understanding any laboratory test results. This helps parents, prospective parents, and affected individuals make informed and informed decisions for themselves and their children.
Information
For more than 4,000 years, people have observed that certain diseases run in certain families, but “the reason” was unknown until modern science showed how genetic information is passed on .
Today’s medicine recognizes that genetic diseases are inherited based on the nature of DNA , genes, and chromosomes . Now that the human genome sequence has been completed , scientists can better study how changes in DNA cause disease in humans and ultimately this will aid in the diagnosis and treatment of genetic disorders.
Many diseases that involve a single defect in the genes can now be diagnosed very early in pregnancy . Prenatal diagnosis examines fetal cells in the mother’s blood, amniotic fluid, or chorionic villi. With this, problems can be detected while the baby is still growing or after birth. In late pregnancy, the umbilical cord blood can be tested .
Couples who are at high risk of passing a genetic (inherited) disorder to a child may consider having a preimplantation genetic diagnosis (PGD). The procedure is performed in the laboratory after artificial insemination approximately 3 to 4 days after fertilization.
Genetic counseling and prenatal diagnosis provide parents with the knowledge to have the opportunity to make intelligent and informed decisions regarding a possible pregnancy and its prognosis. Some parents decide on the pregnancy and have the pathological status of the fetus determined at the beginning of the pregnancy. The pregnancy is continued if the fetus is free of the disease.
If the genetic abnormality is identified in the fetus, parents who decide to continue the pregnancy can better prepare themselves to care for the baby by learning about the disease in advance. For example, if a baby is born with a genetic disease that leads to dietary problems, both mother and baby may need treatment with special diets.
Based on genetic counseling and the severity and potential for treatment of the particular disease, parents may decide to adopt, become pregnant with an egg or sperm from a known or unknown unaffected donor, avoid pregnancy, or cause an abortion of an affected fetus.
Genetic counseling is helpful for any adult, child, or newborn showing unusual symptoms that are known or suspected to be caused by a genetic condition. Counseling will help families choose treatment and care, as well as early surgery, when possible.
People can also seek genetic counseling if they believe they are at risk for developing a genetic disorder based on their family history. Counseling may or may not lead to tests to determine their “carrier status” for a particular disease.
Over the course of the past few decades, it has become increasingly common to talk about Genetic Counselors, especially during pregnancy. Although many people may become aware of their existence, not all people understand what the job of genetic counselors is; and even what they mean when they talk about a gene.
Genes
When an egg and a sperm fuse, each of them provides 23 chromosomes to create the 46 chromosomes that will make up a person. Within these chromosomes are the genes that act as a model or structure for each person. Once conception has taken place, the 46 chromosomes multiply with each cell division.
It is estimated that each person possesses an estimated 30,000 genes. However, if a single gene mutation were to develop, serious health problems could occur.
Often these genetic mutations are passed from generation to generation, resulting in the development of inherited diseases and inherited genetic disorders. For a baby to be born with an inherited genetic disorder, such as: cystic fibrosis or sickle cell anemia; both parents must be carriers of the gene that you have mutated.
Still, some disorders, such as hemophilia, only require that one parent be a carrier of the gene that has been mutated. Other disorders, such as Down syndrome, are not inherited, but are instead caused by spontaneous genetic mutations that occur during cell division within the mother-to-be’s uterus.
Genetic Advisor
Genetic Counselors have specialized training and training, and experience within the area of genetics. In addition, they are qualified to advise highly sensitive people or those who have to deal with emotional problems. A Genetic Counselor must have -at least- a Master’s degree in Genetic Counseling. This field of medicine is relatively new.
As a Counselor, your job is to inform patients about possible birth defects, or genetic disorders that could affect the baby. Their education and training in genetics-related topics allows them to sort through all the genetic terminology that you may not understand, in order to make sense of it and allow you to understand what they are talking about.
They will be in charge of identifying any risk factors that you or your partner may have, and the likelihood that the baby will develop a genetic defect or genetic disorder. These professionals will present you with all the possible resulting scenarios that could help you better understand and decide what you should do. However, they will not make decisions for you or your partner.
Genetic Counselors take into account that every family is different and that what might be right for one couple may not necessarily be the best option for another couple. That is why they try to get patients to become proactive when it comes to making decisions related to the final solution.
Appointment with a Genetic Counselor
Genetic Counselors primarily treat prenatal counseling cases. However, you will not have to wait until you get pregnant to make an appointment with one of them. If you were thinking about getting pregnant, and especially if you consider that you yourself fall into one of the following categories; It would be a very good idea to make an appointment with a Genetic Counselor without wasting any more time.
Couples who will need genetic counseling include the following:
- Those who know or suspect that they have a family history of birth defects or inherited disorders.
- Any parent who has already had a child with a birth defect or genetic disorder.
- A mother who has experienced two or more miscarriages, or has given birth to a stillborn baby, or has had a child who died in infancy.
- If a prenatal medical exam or amniocentesis would have yielded an abnormal result.
- Any parent who was concerned about being exposed to toxins; either in your workplace or because of your lifestyle (for example, radiation, certain medications, or infections.)
- If the age of the future mother were 35 years or more (the risk of the baby suffering from Down syndrome would increase to one in every 350 births; at the age of 35 years; and it would be one in 30 births if the future Mom was 45 years old.)
- There is widespread concern about the risk of developing genetic problems, due to the ethnic background of your parents. Certain ethnic groups have a greater predisposition to develop certain genetic problems. For example, Jews from Central and Eastern Europe are more likely to be carriers of Tay Sachs disease; while African Americans are more likely to have babies with sickle cell disease.
The First Visit
Your Genetic Counselor will want to know as much as possible about your medical history, as well as your family’s history. The more information you can provide your Counselor, the better able he / she will be to identify inheritance patterns and to assess your risk for certain genetic problems.
In some cases, you and your partner will need to undergo more medical tests. Your Genetic Counselor will make all the arrangements so that these medical tests can be carried out. Once your chances of delivering a baby with a possible genetic disorder have been properly assessed, your Genetic Counselor will provide you with all the resources you need to decide what to do next.
Some of the possible solutions for couples who are at higher risk include adopting a baby or conceiving a baby through in vitro fertilization, or implanting an embryo that has been tested and is free of genetic problems, through a genetic diagnosis preimplantation.
Feel free to ask your Genetic Counselor any questions that may be haunting you. He or she will be your best sources of information. Since you could have provided a lot of information during your medical appointment, you should ask for some brochures and even a written summary of everything that was discussed at the visit; which could help her to remember everything that was discussed in that meeting.
Collecting Family Information
It is extremely important to collect as much information as possible regarding your family medical history and that of your partner. When you are preparing for your consultation with a Genetic Counselor, you should speak with your relatives as soon as possible. It could be a lot easier to collect information if you were to dig into your family tree.
First, start talking to your parents and siblings about your medical problems. Then, keep asking about problems that your grandparents, aunts, uncles, and cousins may have experienced. Since both you and your partner will need to perform this procedure on both your father’s and your mother’s sides, it may take a long time to collect all the necessary information.
The diseases and conditions that you should be aware of and investigate would be:
- Cancer .
- Asma .
- Diabetes .
- Heart diseases.
- Hypertension .
- Alcoholism .
- Embolisms
- Kidney diseases.
- Loss of hearing or vision at a very young age.
- Mental illnesses (for example: depression, schizophrenia).
- Learning problems.
- Mental retardation
- Birth defects (eg, spina bifida, heart defects).
In addition to taking note of the diseases, you should take into account the age that each of your relatives was when the problem in question arose, as well as taking into account any kind of relevant information about your health as well as that of your relatives and those of your partner. Was a family member a smoker? Were you physically active? Was he overweight? Since certain genetic problems are more prevalent among some particular ethnic groups, you should also include where your family members come from in the report you are preparing.
Genetic Counselors are invaluable sources to help you deal with potential genetic problems that run in the family. If you think you need to see one, never hesitate to do so.