DNA testing for genetic diseases?

The progress made in genetic research has allowed human beings to know themselves better in order to optimize their lifestyle and improve their well-being, not only by discovering their ancestry or what personality traits or talents they have in their genes, but also by knowing their predisposition to certain diseases, the diet that best suits them, and even the most appropriate training plan based on their genes.

DNA tests for diseases provide information on the propensity to suffer from certain conditions, having a great effect on their diagnosis.

 

Genetics, the main source of self-knowledge

 

A gene constitutes the fundamental unit of heredity. They contain the genetic information encoded in the DNA, and allow the transmission of genetic information from parent to child[1].

In the last decade, there has been increasing awareness of the economic and health benefits of investing in early detection of disease. One of the keys to this early detection is the use of genetics. Information from genes is passed on from one generation to the next, so data on inherited diseases is also passed on.

It is possible to perform a DNA test to detect possible predispositions to certain diseases. However, it is necessary to bear in mind that the results are not completely binding. Genetic predisposition to a pathology is a key factor to be taken into account, but not the only one. Other factors, usually referred to as environmental factors, such as lifestyle (diet, sport, stress level, etc.), the type of environment in which one lives (more or less pollution), etc., also influence the possible development of a disease. For example, if you are predisposed to suffer from hypertension, but you eat a healthy diet, practice sports, keep your stress under control, etc., the probability of developing this disease is greatly reduced and you may not suffer from it. And the same happens the other way around. In other words, having a propensity is not synonymous with developing a disease in the future. Therefore, whenever a DNA analysis is done to detect diseases, it is important to complete the results with the opinion of a physician.

Genetic diseases

 

About 1% of babies are born with a genetic abnormality. This makes hereditary diseases a group of pathologies to be taken into account in the health of individuals [2].

Genetic diseases are those that are due to the alteration of one or more genes, and can be chromosomal, monogenic or multifactorial. The best known are monogenic diseases, caused by the pathogenic mutation of a single gene. In these diseases the genotype-phenotype correlation is very high, the genotype being the set of genes that make up an individual, and the phenotype an observable characteristic or trait of an organism, in this case, the disease. However, depending on the type of inheritance, it is possible to be a carrier of one of these diseases without suffering from it. In addition, the penetrance of the disease must be taken into account, which is defined as the probability that a person with a pathogenic mutation in a disease-causing gene will develop the disease. [3]. 

DNA testing can detect the level of risk for certain diseases, so it has become a useful tool in the field of health.

So, is it possible to know which diseases you will suffer from with a DNA test?

 

With a preventive DNA test, such as the one from 24Genetics, you cannot know exactly which diseases you will inherit, nor if you will suffer from them for sure. What can be done with an analysis of this type is to help to know the predisposition to hundreds of pathologies. There are other types of tests, in which all the genes involved in a pathology are analyzed and which do have diagnostic validity. This type of diagnostic test is usually performed in the case of suspicions of specific diseases. In other words, they are usually more in-depth and more specific in terms of the amount of information they provide.

In the 24Genetics DNA test, more than 700,000 genetic markers are analyzed and compared, by means of complex algorithms, with different results of prestigious genetic research. Thus, the level of predisposition to suffer from certain diseases of genetic and hereditary origin is obtained.

As we have mentioned above, we would like to stress that obtaining one or another result for a certain pathology does not mean that you will really suffer from it or not. Genes provide valuable information, but there are pathologies that do not depend solely on heredity and are influenced by other external factors.

One of the most important aspects of any pathology is to obtain an early diagnosis. Knowing and preventing diseases can multiply success rates by 5 to 10 times. A DNA test to detect diseases helps to make the best decisions in terms of prevention, since you cannot act on what you do not know. Any knowledge about the body’s genetics is health, so it is a wise decision, in any case.

Health DNA analysis report to detect diseases

 

Through 24Genetics DNA analysis, information regarding hundreds of diseases is obtained, which can be classified into the following categories:

• Complex diseases: GWAS.

GWAS (Genome-wide Association Studies) are genome-wide association studies that compare DNA markers from people with a disease to people without the disease in question, so that differences in genes can be identified. Since they do not compare a single gene, but thousands of positions across the entire genome, they are very useful in calculating the genetic risk associated with polygenic or complex diseases. Therefore, they represent a technological breakthrough in identifying genes that are associated with these types of diseases [4].

In the 24Genetics health report we apply these studies so that you can find out which aspects you should be most attentive to, although it should not be forgotten that complex diseases are not only influenced by genes, but also by different factors, such as diet, lifestyle, etc.

• Complex diseases: mutations

Mutations are changes in the DNA sequence. Mutations can be caused by errors in DNA replication, exposure to mutagenic agents or viral infections. Mutations caused by errors in replication can be inherited or appear in adult life, the former being those that can be detected in a genetic analysis of saliva [2].

Through studies from the scientific community, we search for relevant mutations in genes, because of their relationship with oncological pathologies.

• Hereditary diseases

Inherited diseases are transmitted from fathers and mothers to children through genes. It is not necessary to suffer from the disease to have to transmit it, since it is possible to be a carrier and never suffer from it. However, this disease can affect offspring. 

• Biomarkers, biometrics and traits

The objective is to know through genetics the predisposition to have abnormal levels of certain metabolic parameters. For this purpose, GWAS are again used by comparing them with the data obtained.

• Pharmacogenetics

DNA can be used to determine the predisposition to the effect of different drugs, i.e. which ones are better and which ones are worse, or what the appropriate dosage is. In this way, doctors can choose the most suitable for treatment, thus bringing us closer to personalized medicine.

 

What will you find in the report?

 

The report has all the results to the points mentioned above, so that you know for each disease, biomarker, drug, etc., the predisposition given by your genetics.

Some of the pathologies found in the DNA test report to detect diseases are: breast, prostate, or bladder cancer, celiac disease, endometriosis, multiple sclerosis, schizophrenia, psoriasis, hypothyroidism or diabetes. We recommend that you consult this sample report to learn more about the DNA tests that help detect diseases from 24Genetics. 

In short, by performing a disease prevention DNA test we put the great advances in DNA technology to work so you can learn about your propensity for a wide range of inherited diseases, backed by ever-advancing research to help diagnose and treat them [1]. With a DNA health test from 24Genetics you will be able to detect these possible pathologies to act in time.

 

Bibliography:

 

1. Juárez-Vázquez, C. I., Lara-Aguilar, R. A., & Javier, F. (2017). Conceptos básicos de genética clínica para la práctica oncológica. Gaceta Mexicana de Oncología, 16(1). 
2. González-Lamuño, D., & García Fuentes, M. (2008). Enfermedades de base genética. In Anales del Sistema Sanitario de Navarra (Vol. 31, pp. 105-126). Gobierno de Navarra. Departamento de Salud. Available from: https://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1137-66272008000400008
3. Guillén-Navarro, E., Ballesta-Martínez, M. J., & López-González, V. (2011). Genética y enfermedad. Concepto de genética médica. Nefrología, 2(1), 3-10. Available from: https://www.revistanefrologia.com/es-genetica-enfermedad-conceptogenetica-medica-articulo-X2013757511002585
4. Riancho, J. A. (2012). Enfermedades complejas y análisis genéticos por el método GWAS. Ventajas y limitaciones. Reumatología Clínica, 8(2), 56-57.