Genetic Medicine

Genetic Medicine

Molecular genetic tests analyze specific portions of DNA in order to identify anomalies present in the genetic heritage, responsible for predisposing to the development of a particular disease. The genetic analysis is carried out on a blood sample: the individual is then subjected to a sample which provides the biological material on which specific investigations are carried out, in the laboratories of the Monzino Cardiological Center or affiliated external laboratories.

The genetic test performed  is aimed exclusively at adults. The genetic analysis should be completed, for the patient, within six months from the date of blood sampling, and within a month for family members.

It is necessary to carry out a blood sample from which the genetic material is extracted on which specific investigations will be carried out in our laboratories and/or in affiliated external laboratories.

The decision to carry out the genetic test is left to the free initiative of the subject. At any time it is possible to review one’s decision regarding the desire to know the result of the test in progress, by giving adequate written communication.

All the results obtained from genetic analyses, as well as any other medical act, are to be considered strictly confidential and subject to the obligation of professional secrecy.

→ Methods used to perform the analysis

Research (and any unexpected information)

The method used for genetic analysis also makes it possible to examine other genes in addition to those connected to the suspected syndrome. With the prior consent of the person undergoing the test, further investigations may be carried out for research purposes, with the processing of personal data in “encoded mode”, so as to allow only authorized personnel of this Institute to trace the personal details of the subject.

In such a case, any useful findings may be communicated if the person so wishes. If, on the other hand, those who undergo the test do not consent to the execution of further investigations in “encoded mode”, they can still consent to the execution of the same investigations for research purposes in anonymous form; in this case it will not be possible to make it part of any useful results.

→ Consent and protection of personal data

How to perform the test at Monzino (times and rules)


Genetic tests are interpreted on the basis of available knowledge, which however is constantly evolving. The result is “positive” when the DNA analysis shows a genetic alteration that predisposes to the onset of the disease being evaluated, while it is “negative” when the analysis does not reveal a genetic alteration.

There are also some cases in which the result is “of dubious interpretation”: this happens when the analysis highlights a genetic mutation with an uncertain meaning, which therefore does not allow the risk of disease to be predicted with certainty. However, an increased risk cannot be excluded in these cases.

In any case, these are still complex assessments. In fact, although several genetic mutations that predispose to various diseases have been discovered, for many of these mutations the link between the genetic alteration and the development of the disease still needs to be better defined.

How are the results interpreted?

Genetic Tests

Predisposition does not mean certainty

It is important to always stress, and regardless of the results, that being a carrier of a mutation does not necessarily mean that you will get sick: this is why we talk about probability, risk or predisposition.

Mutations can in fact remain completely silent throughout life, and never “express themselves”. Or the same mutation can occur with different severity within the same family. This occurs because the development of a pathology does not depend only on an individual’s genetic make-up but also on the interaction of his genetic heritage with the environment, understood as the set of habits, styles and living conditions.

An integral part of genetic counseling is the explanatory interview of the results with one of our specialists. This moment of comparison, necessary for a correct interpretation of the results, occurs when the report is delivered to the interested party, or to whoever is delegated.

In addition to the interview with the doctor, it is possible for the patient and his family to have one or more interviews with a psychologist present in the facility. In fact, it has been found that deciding to undergo a genetic test, as well as deciding to change one’s lifestyle to reduce the risk of developing the disease, requires the conscious involvement of the patient and his family. Furthermore, confronting the idea of “risk of disease” can negatively affect the patient’s psychological balance, in some cases becoming a source of stress or negative thoughts about the possibility of developing heart disease in the future.

For all these reasons, it is therefore important for the patient to be assisted, when necessary, by a psychologist who can help him manage the onset of any psychological discomfort and decide in full awareness which choices to make.

What is genetic analysis for?

Genetic analysis is used to identify any genetic mutations related to the pathology in question which can be used to:

confirm a clinical suspicion: in the case of patients who already present obvious symptoms, in order to be able to validate the diagnosis but also implement “tailor-made” therapeutic pathways;
identify subjects at risk within the family unit, i.e. recognize among the patient’s direct relatives who is predisposed to develop that same disease. This allows you to implement any dedicated prevention paths, or plan periodic checks useful for early detection of the disease if it occurs and therefore intervene in time;
know the possible risk of transmitting the anomaly to your children.

Some cardiovascular diseases can be associated with mutations of one or more genes that increase the risk of the disease appearing. It is the case of:

some pathologies of the aorta: ascending thoracic aortic aneurysm, aortic dissection, bicuspid, syndromic or non-syndromic aortopathies;
cardiac arrhythmias associated with genetically determined heart disease: arrhythmogenic cardiomyopathy, Brugada syndrome, long QT and short QT syndrome, catecholaminergic polymorphic ventricular tachycardia;
dilated cardiomyopathy;
hypertrophic cardiomyopathies;
pulmonary arterial hypertension.

A modern management of these diseases, in some selected cases, therefore includes genetic analysis.