التعريف والنظرة العامة
There is a long list of diseases and disorders that can be passed down from one generation to another through our genes. Through genetic consultation, you can gauge the risks of them being passed on to your children.
Genes contain DNA, which is commonly known as the building blocks of life. DNA was first identified in 1869, but it wasn’t until 1943 when researchers identified its role in genetic inheritance. Since then, the study of human DNA has made numerous advances. Scientists have learned that certain patterns in DNA can lead to the development of diseases, disorders, and physical malformations.
In the past, nothing could be done to prepare for what we now know today as inherited diseases. In fact, no one knew that diseases could be inherited at all. With the knowledge of genes and DNA that is available today, families can gain the advantage of knowing what diseases they are more susceptible to and make the necessary preparations to minimize the risks of a certain disease from actually developing.
Genetic consultation has helped millions of families around the world to understand their situation and to prepare themselves for such occurrences. It has also helped them gain peace of mind by simply knowing what to expect and being prepared.
من يجب أن يخضع للنتائج المتوقعة
Ideally, every family should undergo genetic consultation, but those who would benefit the most would be those who have a known genetic disorder or suspect that they may have one. Genetic consultation is also beneficial to parents who have children with genetic related diseases, or couples who are planning to have children and want to know the risk of passing on a specific genetic condition.
كيف يعمل هذا الإجراء؟
Genetic professionals, such as medical geneticists and genetic counselors, provide genetic consultation services. The consultation typically begins with an interview to determine the exact reason why you need to undergo such service and what you would like to accomplish. The flow of the consultation would then be in accordance with your goals, so there’s a chance that a consultation with one individual would be different from others.
Most people who undergo genetic consultation want to learn about a particular health condition they’ve inherited and the possibility of it being passed on to their children while others need help in analyzing the history of diseases in the family. Some parents need advice on a certain disease that their child inherited.
After the interview, it’s likely that you and other members of the family would undergo a series of genetic tests. Genetic testing involves obtaining DNA from the members of the family. The DNA is then tested to look for particular mutations that increase the possibility of developing a certain condition.
Once all the genetic tests have been performed and the results are released, the procedure moves into the genetic counseling stage wherein the genetic counselor explains the results of the tests and identifies diseases that run in the family.
It’s important to understand that although the genetic counselor will be able to explain the test results in detail, he or she will not be able to provide advice on precisely what you should do next. That decision will be up to you, but the counselor can give you different options or point you in the right direction.
المخاطر والمضاعفات المحتملة
The risk associated with the actual genetic consultation process is in how the patient receives the information. While people are able to process disturbing information with a positive attitude, others may be overly concerned with the information, which may result in behavioral changes.
The majority of the risks are associated with the actual testing procedures. First, genetic testing itself is not perfect, which means that the results may be flawed or interpreted incorrectly. This can result in false-positive or false-negative diagnosis.
Also, pregnant women who undergo genetic testing to learn the chances of the fetus developing with certain abnormalities are at risk of a إجهاض. This is because the test involves obtaining a sample of the amniotic fluid and the process could put the pregnancy at risk.
- American Congress of Obstetricians and Gynecologists: “Genetic Disorders.”
- New York Presbyterian Morgan Stanley Children’s Hospital: “Autosomal Recessive.”
- UCSF Medical Center: “Preconception Carrier Screening and Testing for Genetic Disorders.”
**What is Genetic Consultation?**
Genetic consultation is a specialized healthcare service that provides individuals and families with information and support related to genetic conditions and their inheritance. It involves a comprehensive assessment of a person’s family and medical history, as well as genetic testing (if indicated) to identify or diagnose genetic disorders, assess risk factors, and provide personalized guidance.
**Benefits of Genetic Consultation**
* **Early diagnosis and intervention:** Genetic testing can identify genetic conditions early on, allowing for timely diagnosis and initiation of appropriate medical interventions.
* **Improved health outcomes:** By understanding their genetic inheritance, individuals can make informed decisions regarding their healthcare, such as lifestyle modifications, targeted screenings, or preventive measures.
* **Risk assessment:** Genetic consultations provide an assessment of the risk of developing or passing on genetic conditions, helping individuals make informed reproductive choices and plan for future healthcare needs.
* **Emotional support and education:** Genetic counselors offer emotional support, guidance, and education to patients and their families, empowering them to cope with the challenges of living with or being at risk for genetic conditions.
* **Family planning:** Genetic consultations help families understand the inheritance patterns of genetic conditions, enabling them to make informed decisions about family planning and reproductive options.
The results of a genetic consultation can vary depending on the individual case. However, common outcomes include:
* **Accurate diagnosis:** Confirmation or exclusion of genetic conditions.
* **Personalized risk assessment:** An understanding of the specific risks associated with inherited genetic variations.
* **Family history interpretation:** Clarification of the inheritance patterns and risk factors within a family.
* **Informed decision-making:** Support for making informed choices regarding healthcare, lifestyle, and reproductive planning.
* **Referrals to other healthcare specialists:** Recommendations for additional medical consultations or support services, if necessary.
**Who Can Benefit from Genetic Consultation?**
Genetic consultation is recommended for individuals and families with a known or suspected genetic condition, a family history of genetic disorders, or specific risk factors. Conditions that may warrant genetic consultation include:
* **Inborn errors of metabolism**
* **Single-gene disorders** (e.g., cystic fibrosis, sickle cell disease)
* **Chromosomal abnormalities** (e.g., Down syndrome, Turner syndrome)
* **Cancer syndromes** (e.g., hereditary breast and ovarian cancer)
* **Complex genetic diseases** (e.g., heart disease, diabetes)
* **Prenatal and preconception concerns**
* **Carriers of genetic conditions**
**Finding a Genetic Counselor**
If you are considering genetic consultation, it is important to find a qualified and experienced genetic counselor. You can search for certified genetic counselors through the National Society of Genetic Counselors or the American Board of Genetic Counseling.