Illness in the family: when to investigate risks?

A family history of illness is often a frequent topic in doctors’ offices. Knowing the most common ailments of the family group is useful to increase vigilance regarding the symptoms of some conditions and adopt preventive attitudes, but the illnesses experienced by relatives should not be seen as a projection of the future.

Medical geneticist Francis Galera, from Dasa Genomics, teaches that most chronic diseases are multifactorial, that is, they are not caused by a single reason. To explain them, both the inherited genes and the patient’s life habits are important.

“Some diseases are closely linked to genetic inheritance, others are more related to lifestyle. Most of them are one of the many possible compositions between these two groups of factors”, clarifies the expert.

To exemplify, Galera cites obesity. “We know that there are genes related to obesity, but food and lifestyle are more determinant for the disease”, he says. On the other hand, some types of ovarian and breast cancer have a proven relationship with the BRC1 and BRC2 genes and can be seen as a probable family inheritance.

What should be investigated

Cardiac and oncological diseases, which cause most deaths in the world, are the main diseases to be investigated in family groups. However, not all illness events in the family are cause for concern.

The general rule of thumb is to do risk screening when the disease arises in an individual who is younger than most patients who develop the condition.

“If a person has a heart attack or stroke before the age of 50, their family members should be screened. Such an event is not expected to occur before the fifth decade of life, that is, the cause is probably linked to a congenital problem”, explains cardiologist Fabrício Silva, from Rede D’Or.

The doctor establishes 50 years for men and 55 for women as warning ages for family members, whether for heart disease or neoplasms. “Serious health events before that deserve the attention of the family group for the possibility of repeating themselves with other people”, says Silva.

The cardiologist recommends that screening be done only among first- and second-degree relatives. The methods to be used will depend on the disease that needs to be investigated. Protein markers, genetic and imaging tests are often used.

genetic testing

The two doctors do not recommend random genetic tests that promise to assess the possibility of the patient developing a future disease. Both claim that it is necessary to know what you are looking for – starting with clues – to arrive at reliable data.

“Genetic tests help when looking for specific information and are interpreted by trained professionals. Otherwise, they are a library with many books in unknown languages”, points out geneticist Galera.

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