Advances in neurogenetics are opening new perspectives for patients while reinforcing the importance of careful interpretation and the ethical issues surrounding genetic testing.
According to researchers Marco Orsini and Wladimir Bocca, although neurogenetics represents one of the greatest breakthroughs in modern neurology, it still faces significant challenges. One of them is that genetic testing does not always provide a definitive diagnosis. Even with comprehensive genetic panels or whole-exome and whole-genome sequencing, many patients remain without a conclusive answer.
Researcher Eduarda Iennaco de Moraes Barbosa also highlights the identification of so-called variants of uncertain significance (VUS)—genetic alterations whose role in disease has not yet been fully established. These findings may generate uncertainty, insecurity, and anxiety for both patients and their families.
Acary Souza Bulle Oliveira also points out that genetic testing may reveal incidental findings, identifying a predisposition to diseases that were not the original focus of the investigation. This possibility raises important ethical and psychological concerns. In addition, he emphasizes that not every identified mutation has a specific treatment available. In many disorders, genetic testing confirms the diagnosis, yet no therapy currently exists that can alter the course of the disease.
Another challenge concerns the cost and accessibility of genetic testing. According to the physicians, many genetic tests remain expensive and are not consistently covered by public healthcare systems or private health insurance. They also stress that interpreting genetic results requires specialized expertise and genetic counseling, as an isolated laboratory report can easily be misinterpreted.
The group also draws attention to the familial impact of genetic testing. A positive result may indicate an increased risk for children, siblings, and other relatives, making genetic investigation within the family necessary.
Furthermore, discovering a hereditary disorder may cause stress, guilt, anxiety, and influence decisions regarding family planning.
Wladimir Bocca and Acary Bulle also note important technical limitations. Certain mutations, repeat expansions—such as those found in some forms of ataxia—and structural genetic alterations may not be detected by every sequencing method, requiring specific confirmatory tests.
Despite these challenges, Orsini and Acary emphasize that neurogenetics has brought significant benefits, particularly in neuromuscular disorders and motor neuron diseases.
These include establishing more accurate diagnoses, reducing the need for invasive procedures, providing better prognostic guidance, identifying patients eligible for targeted therapies and clinical trials, and offering essential information for family counseling.
Neurologists Dr. Marco Orsini and Dr. Wladimir Bocca, who specialize in rare neuromuscular diseases, also highlight the advances made possible by neurogenetics in both diagnosis and the development of targeted treatments. They point to the emergence of Tofersen and Jacifusen, therapies designed for hereditary forms of Amyotrophic Lateral Sclerosis (ALS) associated with mutations in the SOD1 and FUS genes, respectively.
Despite this promising landscape, both experts emphasize that important limitations remain. Wladimir Bocca explains that variants of uncertain significance represent one of the greatest challenges in clinical practice.
“Some of my patients believe—or may come to believe—that uncertainty is proof of something that does not actually exist,” the neurologist says.
Marco Orsini highlights another important aspect: incomplete penetrance. According to him, an individual may carry a pathogenic genetic variant and never develop the disease, making it difficult to accurately predict individual risk.
“Sometimes I find myself wondering and weighing whether I should request genetic testing or not,” he comments.
The specialist also draws attention to variable expressivity, a situation in which the same mutation can produce completely different clinical manifestations and prognoses, even among members of the same family.
Recognized as one of the leading experts in the field, Dr. Acary Souza Bulle Oliveira broadens the discussion by emphasizing the ethical implications of genetic testing. According to him, beyond the impact on family members who may share the same genetic risk, there are important dilemmas surrounding genetic testing in children and reproductive planning decisions.
For Acary, the psychological impact of a genetic test can be profound and requires specialized follow-up.
“Without it, there is a risk of misinterpretation,” the researcher states.
Even with these limitations, the specialists agree that neurogenetics is one of the fastest-evolving areas within neurology. The development of gene therapies, antisense oligonucleotides, and precision medicine is expanding treatment possibilities for diseases that, until recently, were considered to have no therapeutic options.
For Marco Orsini, Wladimir Bocca, Acary Souza Bulle Oliveira, and Eduarda Iennaco de Moraes Barbosa, the future of neurogenetics is highly promising, provided that scientific progress continues to be guided by discernment, ethical responsibility, and appropriate genetic counseling—bringing the reality of personalized treatments ever closer for countless neurological diseases once considered untreatable.
