PD Dr Barbara Klink
NATIONAL CENTER OF GENETICS
+352 28 100 418
+352 28 100 532
Genetic counselling aims to provide information to patients and their families about their genetic disease: its nature, mode of transmission, risk for other family members, genetic testing to establish or confirm the diagnosis. Patients receive oral and written information (medical reports and/or specific information) about the disease. These consultations cover constitutional genetic disorders (disability, intellectual disability, cystic fibrosis and the like), preconception and prenatal genetic counselling, predictive genetic counselling (diagnosis of a genetic disease before its symptoms appear) and genetic predispositions to cancers.
The genetic diagnostic laboratories command the skills and tools needed to diagnose the most common genetic diseases. The investigation methods rely on cytogenetic techniques (karyotyping, FISH, aCGH) and molecular biology. Diseases investigated therefore involve chromosomal abnormalities (trisomies, deletions, duplications and the like), monogenic diseases (cystic fibrosis, haemoglobin disorders and the like) and genetic predisposition to cancers (breast and ovarian cancer, Lynch Syndrome and the like).
This diagnostic activity also includes prenatal diagnosis. In this context, the laboratories are involved with investigations in the foetus, based on family history or sonographic signs detected during pregnancy, of serious and incurable diseases that may justify medical termination of pregnancy if there is diagnostic confirmation and in accordance with the wishes and beliefs of parents after full information about the pathology.
There are thousands of genetic diseases, some of which are very rare. To allow access to diagnosis to a maximum of patients, the department of genetics collaborates with accredited foreign laboratories and send them samples together with pertinent clinical information.
The NCG is also responsible for the genetic analysis of cancer types. All cancers have acquired genetic abnormalities responsible for the transformation of cancer cells. The identification of these anomalies may contribute to diagnosis, define the prognosis and severity of the disease, serve as a guide for treatment and provide access to specific ‘targeted’ drugs. It can also allow monitoring of the therapeutic response and detection of a resistance mechanism.
This activity, originally developed for the diagnosis of haematologic cancers (leukaemias and lymphomas), is gradually extending to all types of cancers with the advent of new therapeutic agents and molecular tests called ‘companion’ tests’ that can predict response or resistance to these treatments. The molecular and genetic diagnostic activity of solid tumours is developed and carried out in collaboration with the National Center of Pathology.
The technical platform of molecular genetics is a component of the center. This platform is committed to developing methods for genetic and molecular analysis for the diagnosis of genetic diseases and the genetic study of cancer. Toward this end, the platform has developed expertise especially in next-generation DNA sequencing methods (NGS) and bioinformatics tools for the analysis of DNA sequences. Genomic medicine is actually burgeoning: it involves the analysis of large gene panels from a patient or a tumour in order to acquire a large amount of genetic information and thus speed up the diagnostic process. Recently, the platform has implemented the first NGS analysis of genetic panels for diagnosis in oncology (colorectal tumours, lung tumours and the like) and for genetic predisposition to cancer.
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