Genes Matter

Discover the preventive and personalised medicine of the 21st Century

As the saying goes, “prevention is better than cure”. This is the exact approach that preventive medicine takes for healthy people. It seeks to optimise strategies forpreserving and promoting good health, preventing disease and facilitating early diagnosis and treatment.

Historically, patients have been treated according to their clinical signs and symptoms, irrespective of their personal characteristics. Scientific advances in the study of “omics”, especially genomics, have facilitated a more in-depth knowledge of the individual, making it possible to personalise both the prevention and the treatment for each patient. This type of high precision medicine is certainly the future of medicine.

As a result, medicine is evolving from being curative to focusing on promoting health and preventing disease, here are some of the main features of this important shift in medicine.

What is preventive medicine? 

Preventive medicine is the medical specialty aimed at preventing the onset of diseases, utilising techniques aimed at promoting and maintaining health and well-being, thus avoiding the onset of disease, disability and premature death. The simple habit of hand washing, which began during the early 19th century, prevented millions of women from dying during childbirth.

Having predictive patient information, i.e., knowing each person’s individual characteristics, helps to personalise their medical care and even simply, modify their lifestyle habits. Doing this may prevent or delay the onset of diseases, while also improving quality of life and health maintenance.

Obviously, adopting healthy lifestyle habits such as exercising or maintaining a balanced diet is essential if you want to be healthy. It is also very important to have annual check-ups with your doctor since these can help to promptly detect and treat any health problems.

What types of preventive medicine are there?

There are four levels of preventive medicine, which are defined by the stage at which they are applied:

  • Primary prevention: primary preventive medicine includes all measures, promoted by the government and health care professionals, aimed at preventing or delaying the onset of illnesses. It therefore targets healthy people. 

Some examples of this include vaccinations, water fluoridation or chemoprophylaxis, i.e., administering drugs to prevent specific diseases. For example, folic acid may be prescribed to women planning to become pregnant in order to reduce the newborn’s risk of spina bifida. 

  • Secondary prevention: secondary preventive medicine includes measures that focus on the early detection of disease. It aims to delay or stop disease progression at an early stage, which increases the success rate of treatment, consequently reducing the cost of care. For example, campaigns for the early breast cancer detection.
  • Tertiary prevention: tertiary preventive medicine encompasses all measures aimed at mitigating the effects of existing diseases. It seeks to improve the patient’s quality of life. Rehabilitation after an acute myocardial infarction or stroke is one example of this.
  • Quaternary prevention: quaternary preventive medicine focuses on avoiding or reducing the impact caused by certain unnecessary, redundant, or otherwise harmful medical procedures. An example is the use of thyroid shields when taking dental X-rays.

Curative and preventive medicine: complementary approaches

Although some trends suggest that curative and preventive medicine are independent disciplines, it does not make sense to see them as separate alternatives. Why choose between one or the other? Historically, these two approaches have coexisted side by side, and they complement each other perfectly. This is why you get the best results when you manage them together. 

Although both approaches to medicine focus on different stages of the disease’s biological evolution, they are both related. By applying a curative strategy to certain diseases, we can prevent the development of other complications associated with that disease.

For example, high blood pressure is considered both a condition and a risk factor for cardiovascular disease, so by tackling it we would be integrating both preventive and curative medicine.

The 4 Ps of modern medicine

For some time now, medicine has focused on the patient, and is defined around the so-called “four Ps”: 

  • Predictive
  • Preventive
  • Personalised
  • Participatory

This type of individualised medicine creates a complete medical approach that centres around the patient.  The main aim is to identify which diseases the patient is most at risk of developing, by analysing information such as family history, lifestyle, anthropometric values, genetics, etc. This information allows the doctor to plan the patient’s care, evaluating the option of carrying out additional tests, adapting follow-ups, making lifestyle changes, etc. 

Individual genetics plays an important role in this preventive approach, providing unique and valuable information for establishing the most appropriate medical care and lifestyle habits for each individual. 

4P medicine seeks to move away from treating a disease towards treating a specific patient, considering that each individual has unique characteristics to consider, allowing for various factors associated with both the patient and the disease itself.

Participatory medicine is also a key concept in healthcare and refers to the active participation of individuals in looking after their own health. Individuals must understand the power and responsibility they have in their own health care, so it is essential to engage the patient and make them recognise that they are a key player in the process.

Why is personalised preventive medicine so important?

Personalised preventive medicine is the logical evolution for medicine. In order to be at the forefront of innovation in health, the patient must have access to all the scientific developments that will prevent the onset of a disease, detect it early, or even treat it more effectively in its early stages in order to minimise its impact on their health.

By applying preventive medicine, the morbidity and mortality rate of certain conditions, such as strokes, has decreased by more than 50% thanks to early high blood pressure detection.

Another considerable example is cervical cancer, where mortality has fallen by 73% thanks to the universalisation of cervical-vaginal cytology.

What role does genetics play in preventive medicine?

Medical genetics aims to implement genetics in medicine. Genetic diagnosis makes it possible to determine which diseases a person is most at risk of developing based on gene variants, i.e. it provides useful predictive information to prevent the development of diseases or to detect them early.

There are a few clinical examples of the importance of genetic testing. For example, the identification of the e4 genetic variant of the APOE gene, which is found in approximately a quarter of the population and which increases the chances of developing Alzheimer’s threefold. Identifying this variant as early as possible ensures that measures can be taken to delay cognitive deterioration. 

A second example is the study of the RYR1 gene. Where there are pathogenic variants, there is a risk of a serious adverse reaction (malignant hyperthermia) which results in fever, tachycardia and muscle breakdown triggered by the administration of some types of muscle relaxants used in surgery, such as nitrous oxide or succinylcholine. This type of variant occurs in 1 in 2,000 people. Knowing this information allows us to prevent these problems by simply substituting some drugs for others.

Not all genetic tests are clinically useful, which is why this type of test must be prescribed by a genetic counsellor who is able to explain the purpose of the test, its benefits and limitations, its consequences for the patient and his or her family, as well how it is interpreted. They will also resolve any doubts the patient might have.With a wealth of scientific evidence and solidity, myGenome is the newest and most complete option for the healthy patient, offering predictive information to help diseases, and adapt the patient’s medical treatment and lifestyle habits.

Conclusion

Nowadays we are moving from reactive or curative medicine to preventive medicine. This is thanks to major biotechnological and genetic advances such as DNA sequencing. These advances have provided us with new tools that facilitate the application of more patient-oriented medicine, which considers the specific characteristics of each patient and aims to prevent the diseases to which they are most at risk.

Genetic testing is a key tool in personalised preventive medicine, but it is important to consult a genetic counsellor when choosing the right test for you, both to ensure clinical relevance and so you get the most out of your DNA information.

MyGenome has been developed with the precise purpose of providing the necessary information to undertake preventive patient care, which will guide their future health check-ups, medical care, pharmacological prescriptions and lifestyle habits. The aim is to integrate a patient’s most personal information, their DNA, into their life plan and health promotion.

If you want to take an active role in your healthcare using the latest advances in preventive medicine, contact us and we will guide you through the selection process so that you can choose the perfect service for you.

This article is based on the original article written by Dr. Luis Izquierdo, Chief Medical Officer at Veritas Intercontinental.

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