SEQC Spanish Society of Laboratory Medicine

Spanish Society of Laboratory Medicine

• Laboratory experts perform the necessary molecular analyses to detect and interpret the clinical significance of genetic variants that may imply a predisposition to develop cancer.

• The SEQC^ML highlighted the role of the specialty when it comes to developing diagnostic algorithms that combine already established tests with new ones that are being validated and gradually introducing biomarkers into neurological clinical practice.

• The importance of flow cytometry in the diagnosis and monitoring of immunological diseases was highlighted, as well as the relevance of biomarkers in the early diagnosis of neurodegenerative diseases.

The Clinical Laboratory specialist plays a crucial role both in the search for new biomarkers for neurodegenerative diseases and in the diagnosis of hereditary cancer. These experts are capable of developing diagnostic algorithms that combine already established tests with new ones that are being validated, so that it is possible to gradually introduce these biomarkers into neurological clinical practice. In turn, in the laboratory the necessary molecular analyses are being carried out to detect and interpret the clinical significance of genetic variants that may imply a predisposition to develop an oncological disease.

Within the framework of the XX Conference of the Scientific Committee of the Spanish Society of Laboratory Medicine (SEQC^ML), which were held in person from March 30 to 31, relative novelties in both fields were presented in the courses "New biomarkers for the diagnosis of neurodegenerative diseases” and “Update on the genetic diagnosis of hereditary cancer”.

A biomarker or biological marker is an analyte that can be objectively measured and evaluated as an indicator of a normal or pathological biological process. Biomarkers are sometimes used to assess the response to a certain treatment for a disease. The use of biomarkers is especially relevant for the early diagnosis of neurodegenerative diseases and thus the ability to treat the patient as quickly as possible.

According to Dr. Alejandro Gella Concustell, coordinator of the course "New biomarkers for the diagnosis of neurodegenerative diseases" and president of the Commission on Neurochemistry and Neurological Diseases of the SEQC^ML, through basic research a great variety of potential biomarkers for different neurodegenerative diseasesare being proposed. In this context, according to Dr. Gella Concustell, the Clinical Laboratory specialist is the one who should "validate these results in larger cohorts, define reference ranges and cut-off points, standardize the preanalytical steps, and finally reconcile the validated methods" .

In the words of Dr. Gella Concustell, biomarkers for the diagnosis of neurodegenerative diseases are a booming field of research. According to him, there are currently basic biomarkers of neurodegenerative pathology (amyloid, tau and α-synuclein), disease intensity (light chains of neurofilaments), and synaptic function (neurogranin). “An example would be the biomarkers of Alzheimer's disease (amyloid and tau). These present sufficient sensitivity and specificity not only for the diagnosis of this disease in any of its stages but also for differentiating other types of dementia. Theirpresencies in clinical neurology practice is becoming more and more established and more laboratories are carrying out these measurements”, he explained.

In addition, the course also addressed the diagnostic utility of determining the levels of free mitochondrial DNA (mtDNA) in cerebrospinal fluid. “Recent studies present mtDNA as a potential biomarker in the detection of neurodegeneration at an early stage,” noted Dr. Gella Concustell. Likewise, the suitability of using flow cytometry as a diagnostic tool for monitoring diseases mediated by the immune response, such as multiple sclerosis, was discussed.

Genetic diagnosis of hereditary cancer

The Clinical Laboratory also plays a fundamental role in the diagnosis of hereditary cancer. In it, the necessary molecular analyses are carried out to detect and interpret the clinical significance of genetic variants that may imply a predisposition to developing cancer.

The study and genetic diagnosis of hereditary cancer is a complex process, where it is essential to know which genes are affected, how these genetic variants are inherited, what the clinical characteristics are that may indicate a certain predisposition to suffer from hereditary cancer, and how to carry out the proper testsin the laboratory to correctly identify and interpret these alterations.

In this way, and in the words of Dr. Orland Díez Gibert, one of the coordinators of the course "Update on the genetic diagnosis of hereditary cancer" and member of the SEQC^ML Genetics Commission, "the amount of knowledge in this field has increased with extraordinary rapidity in recent years, both in the technical advances of molecular analysis and in clinical aspects, which is why it is interesting and necessary to continue reviewing the subject”.

In fact, the course of the XX Conference of the Scientific Committee of the SEQC^ML was intended to review and update this knowledge, "describing the characteristics of different family cancer syndromes, in adults and in childhood, as well as the process of identification and classification of the causative genetic variants and subsequent genetic counselling. Finally, it is worth noting the importance of molecular results in the selection and application of various therapeutic options, developed within the framework of precision oncology,”he indicated.

Laboratory tests for hereditary cancer should be performed only in patients suspected of having an increased risk of cancer due to personal characteristics or family history. In addition, as Dr. Díez Gibert has pointed out, it is also essential "to take into account the ethical, psychological, legal, and social aspects involved in carrying out these tests and in the genetic counseling that is provided to patients and their families, who must provide informed consent in all cases”.

Finally, Dr. Díez Gibert remarked that the genetic diagnosis of hereditary cancer is an area in constant evolution, both in the laboratory and in the clinic, since the genes involved or the causative alterations are unknown in most of the patients and families analyzed. Thus, "it is an area of intense research, in which both Clinical Laboratory professionals and the different medical specialties involved participate," he concluded.