Genetic counseling involves conducting specialized tests and subsequent clinical evaluations to determine if a family carries one or more genetic diseases, assess the risk of developing them, and/or whether they could emerge again in other family members.
Genetic counseling also includes the process of informing the family about the genetic conditions, explaining and educating them on their situation, and providing support if necessary.
Genetic counseling can take place either preemptively or reactively:
- Preemptive: There is a family history of a hereditary condition, and the family members want to verify and, if possible, prevent its recurrence.
- Reactive: A family member is already affected, and the goal is to predict the progression of the genetic condition and determine the best course of management.
Although it may sound futuristic or unusual to some, genetic counseling is quite common today.
Individuals with a family history of a hereditary genetic condition are prime candidates for genetic counseling. This is especially important when the condition has unclear symptoms, as early diagnosis is crucial for treatment.
Family history plays a vital role, not only for hereditary conditions but also for complex.
For example, in most cancers, having close relatives who have experienced the disease is considered a risk factor for developing it.
Another significant moment is when planning to have children. Autosomal recessive diseases may not show symptoms in carriers or may present mild symptoms that go unnoticed.
The same applies to newborns if doctors identify characteristic symptoms and want to confirm them as early as possible.
However, if both parents are carriers and pass on the abnormal gene to their offspring, the condition can become more serious in the child.
There are genetic compatibility tests specifically designed to detect carriers and assess the risk of hereditary transmission for the most common recessive diseases in populations.
These tests are also a definitive way to clarify doubts when a person shows signs of a specific condition. There are many issues related to blood clotting, but only hemophilia A affects the F8 gene. A genetic test would provide a clear answer in that situation.
Genetic Counseling in Its Full Scope
Since it is such a broad field, genetic counseling has been divided into several subspecialties, based on the clinical areas it focuses on:
- Adult Genetics: Focuses on hereditary conditions that arise during an individual’s adulthood. It is a very broad category and includes conditions that also belong to other groups.
- Assisted Reproduction and Infertility Genetics: Often used to detect conditions like cystic fibrosis before implanting the embryo in the mother. Additionally, this branch deals with infertility issues or fetal loss due to genetic complications.
- Cardiovascular Genetics: It has been shown that many cardiovascular problems have a strong genetic and hereditary component, so much so that they have their own specialty in genetic counseling.
- Neurogenetics: Similar to cardiovascular genetics, but instead focuses on neurodegenerative problems.
- Hereditary Cancer Genetics: Perhaps the most in-demand and fastest-growing specialty. The patient’s family history is particularly important here.
- Pediatric Genetics: Includes not only congenital problems but also those that arise during childhood.
- Prenatal Genetics: This branch is involved before or during pregnancy. It is closely related to infertility genetics, but focuses on natural pregnancies.
- Psychiatric Genetics: Oriented toward mental health and psychiatric disorders.
Some of these categories might surprise you. Genetic counseling goes beyond just providing a scientific explanation of the DNA issues that affect the patient.
It is a process of learning, understanding, and acceptance. Many of these conditions are chronic. Although treatments, especially early ones, improve their progression and many allow for a normal life, they are lifelong.
Genetic counseling must take everything into account in order to help the patient as best as possible.
Additionally, as our knowledge of genetics grows, so too do the tools we have and the conditions we address.
The Relationship Between Genetic Counseling and Genetic Testing
It can be compared to the relationship between a blood test and discussing it with your doctor.
We’ve all had a blood test at some point. If you haven’t, you’ve either been very lucky or you just really enjoy mystery.
Once you have a blood test, the results will show a series of analyzed factors and their levels. It is common for the results to include indicators comparing them with optimal, high, or low values.
But having a number next to your blood iron level, along with a note that says it’s below average, provides only limited information.
The same often happens with genetic tests and analyses.
They inform you of the genetic variants you have, the predisposition to certain diseases, and the associated health risks. And often, you end up with more questions than before you took the test.
This is where genetic counseling comes in. It serves as a bidirectional intermediary between the patient and their results, helping them make the most of the information.
Genetic counseling can even be involved before the genetic test itself. Based on medical history and clinical tests, these experts can determine if a genetic test is necessary and recommend an appropriate one.
In some cases, users don’t inquire further about their results. This can be due to embarrassment, shyness, fear, financial costs, or simply not understanding the importance of the information.
Fortunately, the public mindset is changing. As the enormous relevance of genetics in our lives becomes more accepted, related services are also starting to feel less like science fiction.
It’s part of personalized medicine, and the costs in terms of money, time, and resources are decreasing year by year.
If you undergo a genetic test, make sure to take full advantage of its benefits. At tellmeGen, we know a lot about this.
