We often wonder how and why genetic testing is important or can be beneficial for us in the future. Genetic screening is essential when there is a need to test the potential inheritance of diseases or traits during the conception of a child.
We know many of you might have doubts about this and are trying to figure out if there is a need for us to go for genetic testing.
In this blog, we aim to address these concerns and explore a wide range of topics that will help us explore and understand in depth what genetic screening and genetic screening treatment is all about.
Let’s get started!
What is Genetic Screening?
Genetic screening is a tool used to identify individuals at risk of developing a particular disorder or carrying any specific gene for a disorder. Genetic testing is used to identify changes in an individual’s genetic material, encompassing chromosomes, genes, or proteins.
Genetic screening aims to identify altered genes within an individual, determine potential risks, and offer preventive measures or early treatment options.
It is important to note the difference between both terms: While genetic testing focuses on individuals, genetic screening focuses on the entire population, aiming to identify those at risk of developing a particular condition.
Types of Genetic Screening Tests
Several genetic tests are conducted to detect various genetic conditions, with the selection based on an individual’s medical or family history. There are different kinds of testing, such as:
① Single Gene Testing
This type of test will look for changes in only one gene, typically recommended when specific symptoms of a condition or syndrome are considered in you or your child. Single-gene testing is also used to identify genetic mutations within a family.
② Panel Testing
It is considered a test where you look for changes in many genes within one comprehensive test. Genetic testing panels are categorized based on different kinds of medical concerns, including groups associated with a higher risk of developing diseases such as cancer, breast, or colon cancer.
③ Large Scale Genetic
There are two types of genetic screening tests: exome or genome sequencing. On one hand, exome sequencing is looking at all genes within DNA or genes that are related to medical conditions.
On the other hand, genome sequencing is a larger genetic test analyzing an individual’s entire DNA and not just limited to genes. It’s been considered a cost-effective method as compared to single gene testing or large-scale genetic tests.
Also Read: Exploring the Top 5 IVF Centers in Surat for Successful IVF Journey
Benefits of Genetic Testing
Ⓐ Early Detection of Diseases
Identifying genetic mutations linked to specific diseases enables early intervention or preventive measures, aiding disease management.
Ⓑ Family Planning
Genetic testing and family planning go hand in hand for couples and individuals planning to have a baby. It helps identify potential genetic risks that will be carried on to children, facilitating informed family planning decisions.
Ⓒ Genetic Counseling
Besides genetic screening, genetic counseling ensures you clearly understand risks and options for managing or preventing inherited conditions, guiding individuals toward informed choices.
Ⓓ Confirmation of Diagnosis
Through genetic testing, regardless of family planning intentions, Nimaaya ensures that there is confirmation of accurate diagnosis and offers expert guidance on treatment options, facilitating informed decisions for the future.
Ⓔ Research and Development
Genetic screening treatments involve our experts and team focusing on researching and providing alternatives for correcting genetic screening outcomes, contributing to advancements in the field.
Ethical Considerations in Genetic Screening
Genetic screening tests should be conducted considering ethical concerns. Let’s explore it one by one:
• Psychological Issues
Genetic testing involves significant psychological issues that one might go through, such as causing anxiety or stress. This can be dealt with by conducting counseling sessions that are available for individuals going for testing.
• Privacy and Confidentiality
One of the major things to be kept in mind while coping with genetic screening results is to ensure that privacy and confidentiality are maintained and not misused and protected.
• Informed Consent
Individuals going under test should completely understand what he/she might go through during or after undergoing the genetic screening tests. This might involve mental or emotional pressure while going through the procedure.
• Family
The purpose behind genetic testing is that it not only informs the partner who will get affected but also other family members who might get affected.
Also Read: Best Gynecologist in Surat: Navigating Women’s Wellness
How is Genetic Testing Done?
Genetic testing is often considered a part of genetic consultation. The tests are usually conducted on samples of hair, blood, skin, or any other tissue that concerns the pregnancy.
Before the procedure begins at Nimaaya or any other fertility center, they need to understand the testing procedures, benefits, and limitations. Let’s explore the test steps involved:
➢ Consulting with Doctor
The first step begins with genetic counseling, where doctors will take your consent on the form for performing lab tests. The sample may be of your saliva, skin, or fluid around the body during pregnancy. The samples collected will be sent to the lab for further evaluation.
➢ DNA Preparation
In the lab, DNA is extracted from the collected samples. This procedure involves checking out all the potential problems or complications involved while conceiving a baby and guiding couples on suitable ART if that’s the case.
➢ DNA Sequencing
Sequencing tests read your DNA for various changes in DNA, offering detailed information about specific genes and DNA variants. It says that the entire sequence of your DNA might be analyzed on specific portions of DNA associated with certain conditions or traits.
➢ DNA Analyzing
The DNA analyzing part takes place with the help of a report from computers, which will analyze if there is any variant in your DNA. It is said that DNA variants cause diseases, and few of them might pose any health risks.
➢ Interpreting DNA
The most crucial step involves comparing your DNA sequence or specific genetic markers with known genetic variations associated with diseases, conditions, or traits.
This step requires specialized genetic expertise to assess these variations’ significance accurately.
➢ Receiving Results
Once the analysis is completed, you’ll receive the results. These tests will conclude if there are increased risks for certain diseases, carrier status for genetic conditions, or information about ancestry.
Purpose of Genetic Testing
There are various purposes for which genetic testing is conducted. Let’s explore it one by one:
▪️ Diagnosis of Genetic Disorder
Through testing the basic purpose is to diagnose or confirm suspected genetic conditions or disorders. It can identify specific genetic variations responsible for causing a disease or condition.
▪️ Reproductive Planning
The main reason for genetic screening is that family planning is done without any risk involved. This means there is no risk of passing any inherited genetic condition or diseases to their children. Its purpose is to allow you options like going for any available ART options.
▪️ Predictive Testing
Genetic testing detects current diseases and diseases that can occur in later stages of your life. Predictive testing allows you to take proactive healthcare measures, lifestyle changes, or preventions that can help detect it.
▪️ Risk Assessment and Prevention
One of the purposes of genetic testing is to identify genetic factors associated with increased risks for certain diseases. With the help of this, individuals will take preventive measures such as regular screening or lifestyle modification that will help them reduce their risks beforehand.
Risk in Genetic Testing
‣ Psychological Impact
There are higher chances that couples tend to go through anxiety, stress, or depression because of the possibility of developing a serious health condition.
‣ Uncertainty in results
Genetic screening tests cannot be 100% trusted. There are higher chances that it may show variations of uncertain significance, leading to confusion or doubts.
‣ Medical Decisions
It has been observed that genetic tests prompt couples to make significant decisions, such as opting for preventive surgeries or lifestyle changes, which may not always be the most appropriate course of action.
‣ Family Dynamics
Genetic testing has implications for family members that will reveal information about their risk for inherited conditions. This will indirectly impact family relationships and dynamics.
Consideration for Individuals and Couples Who are Seeking Assistance for Genetic Screening
While opting for genetic screening for pregnancy, there are certain conditions for individuals and couples that need to be taken into consideration. Let’s explore the factors one by one:
➊ Informed Decision Making
Educating individuals or couples about the test’s natural potential and life-altering results is essential for making informed choices.
➋ Counseling
To navigate couples through the emotional and psychological aspects of testing, there is a facility for counseling with IVF specialists that will offer them guidance, address concerns in detail, and tell them what steps to take to deliver a baby without involving any complications in the future.
➌ Emotionally and Mentally Fit
One of the difficult considerations couples often have to go through is staying strong throughout the genetic screening process. A situation where both of them have to provide each other with emotional and mental support throughout the process, regardless of the outcome.
➍ Family History
A detailed analysis of the family’s medical history is essential. This is essential for those who will help us determine which tests are most beneficial and which will offer insights into potentially inherited conditions.
➎ Privacy and Confidentiality
One of the crucial factors is that couples, before going for a genetic testing pregnancy, always make sure that there is no misuse of the reports and that they won’t be misused.
➏ Financial Consideration
Before moving further with genetic testing, the major consideration that comes into the picture is the financial aspect. Couples need to make sure that they are making an informed decision and don’t face any problems in the future.
Bottom line
To summarize, we aim to provide a clear understanding of genetic screening and tests and what you can expect while going through the testing process and upon receiving results.
At Nimaaya IVF Center, our expertise team is dedicated to assisting individuals through various tests. These assessments are conducted in our advanced laboratory, equipped with the help of technology, ensuring advanced equipment is installed and helps to bring solutions that cater to their needs.
Book an appointment today!