Genetic Testing For Hereditary Disease

Understanding The Concept Of Heredity Disease:

Hereditary disease is passed on from parent to child in the form of genes, sperm, or eggs. Hereditary are the traits and conditions passed on from one generation that can be positive and negative. The term hereditary emphasizes and helps to learn about heredity in depth.   

Hereditary is an adjective describing attributes, diseases, or characteristics inherited from ancestors or even from biological parents. 

For Example, 

• Long black hair is a hereditary trait in the family 
• Diabetes runs in the hereditary  

Hereditary is a more specific way to acknowledge heredity. It can be referred to more as a term used while describing heredity. It is an overall process of genetic inheritance. An in-depth study is needed to understand the genetics and inheritance.  

What Are The Common Hereditary Disease? 

• Cystic Fibrosis – This condition attacks the respiratory and gut system 
• Sickle Cell Anemia – When the red blood cells are abnormal, it is because of this condition  
• Huntington’s Disease – A disorder in the brain called Huntington’s disease  
• Metabolic Disorders – It is a type of disorder that lowers the ability to convert food into energy 
• Phenylketonuria – It affects the metabolism of the amino acids 

• Cardiovascular and heart diseases – high cholesterol and early heart diseases 

Two Types Of Cancer Can Be Mainly Inherited:

• BRCA1/BRCA2 Mutations: Responsible for causing breast and ovarian cancer 
• Lynch Syndrome: Responsible for causing colorectal and other cancers 

Here is the hereditary diseases list which are commonly transferred from one generation to another.

• Phenylketonuria 
• Thalassemia 
• Duchenne Muscular Dystrophy 
• Hereditary Breast and Ovarian Cancer 
• Neurofibromatosis  
• Wilson’s Disease 
• Albinism 
• Charcot-Marie-Tooth

What Can Be Done To Resolve Hereditary Disease?

Medical Solutions 

Medications or early detection with medications are one of the best ways to slow the effects of hereditary diseases. Medications should not be taken without the consent of the doctor as some might be allergic to certain pills. Medical solutions for all hereditary diseases are not available, one needs to do proper testing before concluding.  

Surgical Intervention 

Surgical intervention comes into the picture later when medications are not working. Going for surgeries is a big decision especially when it is about resolving hereditary issues. Not all inherited issues can be treated with the help of medicines.  

Surgeries for hereditary diseases are often less successful because genetic conditions are difficult to eliminate from the body. Consultation with the doctor can make things easy and provide the right direction. The main aim of surgeries is to reduce the risk of hereditary diseases like cancer and prophylactic.  

Gene Therapy 

This is a new development in science. Gene therapy is an area where the defective gene is corrected which in the future might develop into a serious disease. It is not yet so popular all over the world but is gaining importance with time. Not all health experts can do this, so research well in advance.  

How Lifestyle Modification Can Help In Treating Hereditary Disease?

Diet And Exercise 

Diet and exercise improve digestion, which helps maintain a healthy gut. Maintaining a proper diet and exercising burns calories and help the blood to flow freely. A little change in daily routine can do a lot of positives for the body.  

Trigger Warning 

Information about medical decisions and personalized care.  

How Genetic Testing Can Help in Early Detection And Diagnosis of Hereditary Disease? 

Identification Of Genetic Mutations: 

Genetic testing can identify specific mutations that cause the worst thing, which is to avoid trigger warnings for hereditary diseases. Trigger warnings are important to be treated in time before they turn incurable.  

How Genetic Testing Helps prevent Hereditary Disease?

Genetic testing is important in diagnosing, treating, and preventing hereditary disease.  

It provides all the necessary details about the individual’s genetic makeup which allows hereditary disease with the help of early detection. Detection is possible even before the symptoms can be noticeable.  

Newborn Screening 

The best way to avoid genetic negative conditions is to detect them when the child is born, which allows timely intervention.  

However, a newborn should not be exposed to a lot of screening as it might affect its health. Some of the major health issues can be detected through sonography during pregnancy. 

Newborn screening is now available at most healthcare centers. It is better to be well-prepared in advance than to regret it later.  

One can also ask the doctor post-delivery about the various genetic tests that can be done and schedule an appointment accordingly.  

Risk Assessment And Prevention of Hereditary Disease:

Predictive Testing 

Predictive testing is one such thing where testing of whose conditions are done in the start which is more likely to develop in the future. This is the best option to avoid unnecessary screening as too much radiation is not good for the body. Predictions might not be always right but can be beneficial by taking a certain level of risk.  

Carrier Screening 

Carrier screening helps in identifying those specific genes that have a high possibility of carrying hereditary disease.

There is no 100% assurance or 100% result that these carrier screenings will help to lower the risk of genetically transferred diseases.  

Carrier screening is the advancement of science and something that will be helpful in the future. There is nothing better than to exactly know the gene that is carrying disorders or serious conditions that can also spoil lives. 

Informed Family Planning 

Having a child or not should be the sole decision of the parents and most importantly the mother. When someone is well-versed with all the advantages and disadvantages of bringing offspring into this world, the decision becomes easier.  

Reproductive Choices 

With the help of genetic testing, soon-to-be parents can know all hereditary conditions their kid might face in the future. This can be an emotional decision and the support, and friends and family are a must.  

Prenatal Testing 

The testing that is done during the pregnancy with the help of sonography can help detect all the problems the unborn child is already carrying. A practical decision now can save lives in the future.  

Tests conducted during pregnancy can detect genetic abnormalities in the fetus, providing options for early intervention or decision-making. 

Genetic Counseling: Guidance And Support

Genetic counselors interpret test results and guide managing and understanding hereditary risks, supporting patients in making informed decisions. What we can conclude is that genetic testing will be the basic tool in the future. 

There is nothing better than already knowing the issues that one might face later and working on them. Just by early detection and proper treatment hereditary conditions might revoke.  

Genetic testing can change the scenario of the whole world. If all the testing turns out to be 100 true, a world where there will be no abnormalities is not far. It can also prove an alarming sign for the next generation, where they will already know where and what their body needs to work on.  

How Genetic Testing Can Help Mankind with Hereditary Disease? 

Psychological Impact 

It is a very basic nature of mankind to stress out even for the littlest thing that does not need so much attention. When the genetic condition or disorders are already known, people might start giving it more importance than needed.  

Privacy Concern 

When it is about science and data, the possibilities are less of the personal information being personal. Confidentiality becomes one big question and hence there are safety issues. Once the data is out to the public there are high chances of it being misused.  

Discrimination  

An individual might have to face discrimination at work front or in their personal life when their hereditary conditions are out in public.  

Limited Predictive Power 

It is not necessary that all predictive testing can give clear answers or perfect results. Other genetic conditions might alter the results. Multiple gene interventions, environmental conditions, and physical and psychological health can turn the results.  

Family Stress 

When the genetic information is out, it affects the relationship and creates unnecessary boundaries between the family members. There is also a lot of guilt involved when the hereditary conditions are too embarrassing to be out.  

Many a time the family members do not even share the issues they are facing that can be genetically transferred due to the obligations they might face. This stress can give rise to other non-existing health conditions. Family support is very important during these times.  

Technical Limitations  

Genetic tests are not all reliable, there are loops and holes. One should not go for it if they do not have complete knowledge about it. Genetic testing can bear negative responses too, it is important to be ready for both.  

Genetic testing can only be completely known if one is constantly updated about it. Any scientific development can be a boon or a blessing, it all depends on how serious one is about it. Make sure to be well-versed with what is new in genetic testing.