Fábio Arrojo is like a detective at times. Just that he doesn’t investigate crimes or questions suspects, but “digs deep down into genes.” Analyzing genetic sequences and their meaning is his job in a nutshell, trying to find an explanation for the patient’s symptoms.
Fábio and other geneticists at Blueprint Genetics are the last step of the genetic testing process that involves several teams. He turns the data, which underwent Blueprint Genetics’ bioinformatics processing, into a clinically insightful report. Working as a geneticist might sound like lab work only, but Fábio sits at his desk and has two screens open.
“I like to work with two screens; one to have the case I am working on open, and one to search for additional relevant information for the case,” Fábio says. Additional information may mean digging through scientific literature, the vast internal and public databases, as well as using different bioinformatic tools, for instance.
It is common for the geneticists to share relevant news and discuss tricky cases. The teamwork happens in day-to-day conversation, or during the weekly meetings and internal science club, where they debate advances in the field, scientific papers or crack the tough cases in a team effort. “It is common to have intensive discussions to reach the best and most accurate result.” The mission is, time and again, to find the genetic cause that could bring the answer that the patient is seeking.
“You have to do your best to find the answer, keeping in mind that your work can represent a possibility for a better and more accurate treatment to the patient,” Fábio notes.
Fortunately, the sophisticated software created by other teams accommodates the work of Fábio and his colleagues. Tools that centralize relevant internal and public information help geneticists to analyze their current cases, but also to check results from previous cases, ensuring that variants have the opportunity to be re-evaluated and reports updated when new information and diagnoses come available.
Fábio himself works with specialized teams which focus on specific medical specialties affecting different parts of the body (nephrology for him; immunology, neurology, ophthalmology etc. for others). All gene panels have in common that they are diagnostic in nature and the result may provide insights on future medical management.
“The work is challenging, but also rewarding. It is like trying to solve a difficult puzzle: the genomic changes and the patient’s clinical features are like the pieces that alone may give no relevant information, but when put together in the correct order, may represent something meaningful – I get so happy every time I succeed to complete this puzzle and have the answer to help the patient,” he says.
The results may affect the entire family. “Our results could mean a possible explanation for a relative with similar set of symptoms, or the establishment of predictive strategies for an unaffected individual with the variant. It can even help to clarify inheritance patterns, estimating the likelihood of a variant being passed on to children,” Fábio explains. Here is where familial variant testing, another team he is also part of, can also be a game-changer.
Fábio wants to help people understand their own health – or illness. Growing up, he dreamt of medical school back home in Brazil, and only realized during his bachelor studies in biosciences that there are other ways to help patients than becoming a medical doctor. That is one of the reasons he did his master thesis and PhD in human genetics. During the post-doctoral research, his focus shifted towards the signalling involved in stem cells, until he realized he needed to work on something more tangible and with real impact in people’s lives.
“I knew I wanted to help in a concrete way, with a direct impact to the patients’ lives.” After working in the genetic screening of individuals with hearing loss, Fábio joined Blueprint Genetics in late 2020. “I had heard good things about the team and the working environment. The mood is friendly, people like what they do, everyone is highly educated and knowledgeable. And everyone shares the feeling .”
Fábio is glad to be surrounded by experts who have the same working attitude. He underlines that geneticists are curious, detail-oriented, and very thorough. “You must search for the hidden relevance,” he says and continues: “You may have had a tough day, but it pays off by knowing that you helped someone find answers and putting an end to the agonizing search.”
He puts himself into the shoes of the individual: he would like to know the answer. Just like a good, meticulous detective.
Blueprint Genetics is a genetic testing company based in Helsinki and Seattle. Our global team of more than 200 exceptional people works across the organization to provide world-class genetic testing to healthcare professionals, so they can provide the best possible care for patients and families with inherited diseases. Whether we work in software development, customer service, the laboratory, or the geneticist team, we are committed to the individual ones. Join us and make a difference: careers.blueprintgenetics.com.
Text: Nina Laurinkari
Photo: Anton Sucksdorff