Guía Help me understand geneticsUnderstanding genetics can be complex for the general population. However, there are a number of publications that may be useful to facilitate understanding and communication between medical professionals and patients. Among them, the new guide Help me understand genetics, published in February by the U.S. National Institutes of Health (NIH).

In this article we expose some of the concepts you can find in this guide. We remind you that you can also consult other guides on genetics in our web section Health and Genetic Legacy. Specifically, the Genetic Alliance’s Guide to Understanding Genetics and the guide To understand your genes, by the same author and the National Society of Genetic Conselours.

Do you know the basics about genetics?

What is a cell, what parts form it and what is the function of each of them? The guide answers these questions and explains what DNA is and where it is. Did you know that almost every cell in our body shares the same DNA? And that most of the DNA is located in the nucleus of each cell? It also includes other basic concepts such as what the genes are and how they work, what the chromosomes and the non-coding DNA are …

Other topics covered are genetic mutations. This document explains what they are and what the difference is between hereditary and acquired, why they occur, what types exist and how they affect health. There is one striking fact: researchers are discovering that almost all diseases are related to some genetic component.

How to prevent hereditary diseases?

As explained in the section on hereditary genetic conditions, knowing one’s family medical history is important in order to prevent the development of genetic diseases, such as cancer, diabetes, cardiovascular disease or hypertension, among others.

In the same line, making changes in our lifestyle, tests and preventive medical treatments may be the key to reducing the risk or delaying the appearance of a genetic pathology.

It should not be forgotten that, as this document reminds us, although our family medical history indicates that there is a predisposition to suffer from an illness, this does not mean that all the members of the family will develop it.

Human traits and genetics, genetic counseling and genetic testing

The relationship between genetics and human traits, such as hair color and texture, weight, longevity, temperament or even intelligence is another of the topics addressed.

The guide also explains what genetic advice is and in which cases it may be useful to access it:
personal or family history of a genetic condition, birth defects, chromosomal disorder, hereditary cancer, pregnancies in women age 35 and older, cases of two or more abortions…

What about the diagnosis of genetic alterations? Some of the most common tools to detect them are genetic tests, physical examination and family medical history. The guide delves into the different types of genetic tests and many other aspects related to them.

Research and treatments

In most cases genetic alterations have no cure, as they affect several systems of the body, but this document reminds us that having knowledge of them is important to be able to treat the associated symptoms.

It also dedicates a section to gene therapy, a technique that is currently only available in research. It involves using genes to treat or prevent disease, and is expected in the future to allow doctors to treat disease by inserting or correcting a gene in the patient’s cells.

On genomic research, the next challenges are highlighted, e.g. to develop and implement genome-based strategies for early detection, diagnosis and treatment of diseases.

And finally, in a section dedicated to precision medicine, we explain how this emerging discipline works for the treatment and prevention of diseases. It takes into account the individual variability in the genes, environment and lifestyle of each person. Without a doubt, a type of medicine that will improve many aspects of health and medical care both in the short and long term. In this sense, all those who suffer from a hereditary disease should know that, preserving their DNA today, will be helping their descendants to prevent it in the future.

You can read the complete guide here.