The field of impact of molecular diagnosis ranges from infectious diseases to chronic-degenerative diseases such as cancer and diabetes.
New technologies have allowed the biological samples that are required to be less complex and that they can be obtained in a less invasive way.
Today we can do genomic sequencing of saliva samples! Well, this underpins more and more that such tests will be available in point-of-carethat is, in the place where the patient is cared for, for example, in the doctor’s office, in the emergency area or in points far from health care centers such as in rural areas.
This will imply the development of another level of technical sophistication in which the human being has less direct participation and there are more automated processes and portability, thus achieving an increase in the coverage of clinical and molecular diagnosis for a broader population.
Although 70% of the diagnostic decision relies on laboratory or imaging tests, the contribution in terms of economic impact is only marginal and this is because most of these tests are carried out for already established diseases.
Imagine its role in disease prediction and prevention! The cost/benefit of disease prevention is undisputed and the contribution of the laboratory is fundamental.
We currently have genetic laboratory tools that, together with biostatistical tools, can predict the risk of diseases such as acute myocardial infarction; With that information in hand, the doctor and the patient can make clinical decisions. first to modify lifestyle and risk factors.
Although there are some barriers to its implementation, such as acceptance in the medical community and, for now, its cost, as these tests have better penetration in the market, prices will drop and they will be available to large population groups. They will cease to be niche tests.
A fundamental role will be the impact of these molecular technologies in precision medicine and personalized health. New areas of interest such as pharmacogenomics will allow therapeutic efforts to be directed to the specific places where the disease resides, but also considering the unique and unrepeatable characteristics of the patient who carries them.
On the other hand, molecular fingerprinting in oncology allows us to identify, for example, in breast cancer patients who will benefit from chemotherapy and those who do not need it (by the way, 55% of patients with this cancer in stages early do not require chemotherapy).
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