Genetic sequencing in the prevention and treatment of diseases


Yellow September, Pink October, and Blue November, these months seek to raise awareness among the population about the care and prevention actions that can be put in place to reduce cases of disease. Besides conventional care and treatment, in the last few years, genetic research has evolved and given other possibilities to prevent and treat several diseases, especially when it comes to degenerative diseases that still need a lot of research.

To understand the genomic research and genetic sequencing, we talked to the co-founder of Genitore, the geneticist Dr. Daiane Priscila Simão-Silva, who has a degree in Biological Sciences and a master’s in Evolutionary Biology from Unicentro, a PhD in Neurogenetics from UFPR, and a post-doctorate in bioethics/medical ethics from PUCPR. In her academic career, she can work with genomics in several ways, with research focused on mental health, degenerative diseases and ethics in genomics. In her doctorate she can do part of the research at the Karolinska Institute, one of the biggest centers for training and research in medicine in Sweden.

According to Dr. Daiane, each human being has different combinations in their DNA, making us unique. Each individual has his or her own mark and will respond differently when in contact with elements in the environment. This explains the importance of this type of research, different from what used to happen before when a general solution to the same problem was sought, today with personalized medicine there is a search to identify what each organism needs and how to treat and prevent different diseases in this great variety of beings.

Taking advantage that we are in the last day of October, according to Daiane, her move into clinical practice was after the Pink October 2021, where she participated in several lives to talk about the disease, care, and genomic research in the area, and at the end many people asked her to evaluate the genetic panels they had done but didn’t know how to interpret the data. Daiane started consulting about these panels and, together with her husband, Dr. Jefferson Soares da Silva, created the Genitore startup, where today she evaluates which is the best panel for each individual, as well as advising and following up with the patient.

In the case of breast cancer risk, genetic sequencing is recommended, according to Dr. Daiane, if the person has already had three cases of cancer in the family, not necessarily breast cancer, especially if it happened early in the family, because this shows that there is a strong genetic factor in the family. “With the panel it is possible to identify a risk of breast cancer and work with surveillance and risk reduction measures,” she guarantees.

Daiane reminds us that it is not possible to identify all the cases in advance, since only 5% to 10% of breast cancer is hereditary; the other 90% are sporadic and depend on environmental and genetic factors. With the various genetic mutations of cancer and with individuals responding differently to the disease and treatments, it is necessary to expand genomic studies so that more assertive measures can be applied. “A Brazilian study, which evaluated about 2,000 women, identified that we have a higher prevalence of a different mutation than the rest of the world, and this changes the guidelines and therapeutic care,” says Dr. Daiane.

November is the month for fighting prostate cancer, and besides general health care, doing the prostate-specific antigen (PSA) and rectal examination regularly, genetic sequencing can also be an ally in preventing the disease if it is hereditary.

Remembering the Yellow September, which addresses mental health issues, with genetic sequencing it is also possible to analyze how certain genes of the individual can impact the metabolization of drugs. According to Dr. Daiane, today she sees several patients who seek this type of analysis, so that they can take the medications that are most effective for their bodies, thus having more quality of life.

But the knowledge of the human genome and its interactions is still very recent and gets into several points of ethics and uncertainty. The positive point of doing a genetic sequencing is to know the diseases and intolerances that a person is more likely to develop, to know your body so that you can eat, exercise according to the needs of your metabolism, and to know which treatments will be more effective for your body. But Dr. Daiane reminds us that for some diseases there is still no treatment, so knowing that the person has a great chance of developing the disease and that there will be no cure can affect the patient’s psychological state.

“We work in a field that is growing and whoever is going to do this follow-up needs first to be aware of: what am I going to do with this information and how am I going to manage it. Will it change my lifestyle habits? Do I have a family history that leads me to this recommendation? If I don’t have one and I really want to know, why do I want to know? Is it because I depend on this information to change my health and care habits?”, she asks.

Dr. Daiane then indicates that people who have a doctor’s recommendation should have the genetic sequencing and that the population in general should maintain healthy habits, because it is the main way to prevent any disease and follow with preventive care such as regular exams.

As a technology park, the CTP seeks to support and encourage science, research, and innovations in health, besides bringing information so that everyone has more quality of life and a better future for society.

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