2023 May 10

Genomic studies gain importance in the diagnosis of new generation in hematologic cancer

The researchers Eulàlia Genescà and Francesc Solé, from the Josep Carreras Leukaemia Research Institute, have organized the third edition of the course "NEXT, New Generation Diagnosis in Leukemia" together with the Spanish Society of Hematology and Hemotherapy (SEHH). The course, which has the support of the Spanish Program for Hematology Treatments (PETHEMA) of the SEHH, has shown that the diagnosis of leukemia, and of hematological cancer in general, "is at the same level in Spain as in countries with a recognized track record", according to both experts.

The course will focus on genomic studies, which, according to the researchers, "are becoming increasingly important for their diagnostic and prognostic value and for selecting the most effective treatment. Massive next-generation sequencing is being established in most large healthcare centers and is ready to be implemented in healthcare," say the course coordinators. However, it is important to "rationalize the use of these techniques and their implementation strategy, bearing in mind that they require a significant investment in technical and human resources".

To this end, the design of new-generation diagnostics "involves the creation of reference centers capable of absorbing the national demand for massive sequencing". But "the most important thing of all is the analysis of results, which requires good specialists who know how to interpret them". The role of the SEHH and its working groups, which have been drawing up guidelines to standardize the use and interpretation of results, is noteworthy.

The recent appearance of two new classifications of hematologic cancers -the World Health Organization (WHO) and the International Consensus Classification- "requires the use of genomic studies as new entities are added based on genetic studies," say Drs Genescà and Solé. However, as these are classifications with different disease names and different organizational criteria, "it is and will be a difficulty for hematologists, especially with regard to the treatment of their patients and their inclusion in clinical trials," they explain. Moreover, it is likely that "a third consensus classification will not emerge in a short period of time". Diagnostic centers "will have to adapt their analysis techniques to the demands of the current classifications".

The technologies that enable mass sequencing are evolving very rapidly. "We are already in the fourth generation, which allows sequencing directly on cells and fixed tissue," say the course coordinators. "Being able to have the complete sequencing of a patient's genome would enable us to carry out totally personalized medicine," they add. This would be a bet on the future, since "today we do not know the meaning of many of the genetic variants that we identify in a patient and the therapeutic range is still limited". In a few years, the healthcare centers "will be able to have an adaptable panel of genes, where new genes will be incorporated as their usefulness in diagnosis and/or prognosis is confirmed".

On the other hand, artificial intelligence "is already present and will be increasingly involved in diagnosing and prognosticating hematologic cancers," emphasize Dr. Genescà and Dr. Solé. "There are already computer programs that optimize and reduce the analysis time of the morphological studies necessary for hematologic diagnosis, as well as algorithms that automate karyotyping and even classify the type of leukemia at the molecular level," they say. These applications "will lead to more accurate and efficient diagnoses and prognoses, so that the professionals who use them will have advantages over those who do not". Above all, the information obtained from these algorithms "must be supervised and contrasted, as well as ethically regulated".