Genetics plays a major role in our mental as well as physical health. There are numerous cells and tissues that are affected through hereditary diseases and are carried over from one generation to generation.
The most common example that we can notice in our day-to-day life is how your friend who eats the most and still is the slimmest. And how can you face back pain issues at an early age?
Genetics is the answer to all these questions! Although it can be admitted that to a great extent we ourselves are responsible for our health, in hundreds of ways genetics is a major reason affecting our health.
But how can we know if we are facing any problems due to heredity? Is there any way to diagnose hereditary problems? How to find out what genetic diseases you have? Let’s see how the testing procedure goes:
How is a genetic disease suspected?
On the basis of a person’s physical traits and family history, a doctor may suspect a diagnosis of a genetic illness. Doctors use a variety of methods and approaches to identify hereditary diseases.
The most common and the most effective approach is at-home DNA tests. You can read more information about this theme on this site. These tests can help you identify if you are prone to a hereditary disease. You don’t have to visit a clinic, you can get a DNA test done with the comfort of being home.
What is genetic testing?
Genetic testing is a comprehensive process that entails looking at your DNA, which is a chemical database that contains instructions for how your body functions. Changes (mutations) in your DNA that may cause illness or disease can be discovered through genetic testing.
There are limitations to genetic testing, which can provide useful information for diagnosing, treating, and avoiding illness. A positive result from genetic testing does not automatically imply that you will acquire an illness if you are healthy.
However, in rare cases, a negative test does not mean that you will not develop any kind of genetic disease in the future. It’s a good idea to discuss your options with your doctor, a medical geneticist, or a genetic counselor.
For many genetic disorders, genetic testing is now available. But some illnesses may lack a genetic test because the genetic etiology of the ailment is unclear or a test has yet to be created for that specific disease.
In these situations, sequencing the entire genome could lead to the discovery of the causative genetic variation. When genetic testing fails to result in an appropriate diagnosis but a genetic cause remains a possibility, some facilities offer genome sequencing, which is a method of studying a sample of DNA extracted from your blood.
Everyone has their own genome, which is made up of the DNA in all of their genes. This in-depth testing can aid in the identification of genetic variations that may be linked to your health. The exome, which encodes proteins, is usually the only section of DNA examined during this procedure.
A genetic illness can be diagnosed at any moment during life, from before birth to old age, depending on the onset of symptoms and the availability of testing. A diagnosis can sometimes help guide therapy and management decisions.
A genetic diagnosis can also reveal whether additional members of the family are affected by or at risk of developing a certain condition. Even if there is no treatment for a condition or a disease, having a genetic diagnosis can help patients understand what to anticipate and locate helpful support and advocacy options. Here are some methods used for diagnosing a genetic disease:
1.A physical examination:
Certain physical characteristics, such as specific facial features like wrinkles, can point to a genetic condition being diagnosed. A geneticist (a doctor who specializes in genetic diagnoses) will perform a complete physical examination, which may involve taking measures like the circumference of the head, the distance between the eyes, and the length of the limbs and legs and may include many internal tests as well.
Specialized examinations, such as nerve system (neurological) or eye (ophthalmologic) exams, may be done depending on the situation of your symptoms and your physical & mental health. To observe structures inside the body, the doctor may utilize imaging evaluations such as x-rays, computed tomography (CT) scans, or magnetic resonance imaging (MRI).
2.Personal medical history:
Information regarding a person’s health history and how his body has been dealing with inner and outer attacks can tell a lot about the person and can lead to a genetic diagnosis which can frequently go back to birth and hereditary diseases.
Past medical concerns, hospitalizations and operations, allergies, medications, and the findings of any previous medical or genetic tests are all part of a person’s medical history and can tell a lot about the person’s genetic carriage of diseases.
3.Diagnosing family and closer relatives for genetics diagnosing:
Because genetic problems frequently run in families, knowledge of the health of relatives can be an important help in detecting these diseases. A doctor or genetic counselor will inquire about a person’s parents, brothers, kids, and possibly further distant relations’ medical conditions.
This data can reveal details regarding a genetic symptom’s diagnosis and inheritance patterns in a family.
Laboratory tests, such as genetic testing can be really helpful in finding genetic diseases and is one of the most effective methods for diagnosis for any age. Genetic abnormalities are diagnosed through molecular, chromosomal, and biochemical genetic or genomic testing.
Other laboratory tests that are helpful in assessing the amounts of specific chemicals in the blood and urine can also aid in the genetic diagnosis of a person.
In conclusion, a diagnosis can also be made using a mix of the approaches outlined above. Physical appearances, medical history, relation check, and genetic testing altogether can be used for diagnosing an ever-complicated disease.
Even when genetic testing is available, the approaches outlined above are utilized to narrow down the possibilities of a process known as differential diagnosis and select the most relevant genetic tests.