The fast development of diagnostic techniques applied to the study of genetically based human pathologies over the past decade has made it possible to reliably study these pathologies, and there is a growing demand from clinicians for this type of service. Communication with the geneticist in a suitable environment, such as the Genetic Counseling consultation, is fundamental for the correct approach of these cases.
In principle, any patient referred by a clinician with a suspected genetically based pathology:
1. Pediatrics: from all its subspecialties, but fundamentally from Neuropediatrics consultations (maturative delays, autism, neurocognitive disorders, epilepsies, etc), Neonatology (malformations, growth retardation, etc), Dysmorphology (genetic and chromosomal syndromes, embryopathies,...), Endocrinology (metabolic disorders, pathology of puberty, sexual development, etc.), Child Psychiatry (behavioral and behavioral disorders, psychiatric syndromes, etc.).
2. Gynecology/Obstetrics, certain aspects are important in this specialty:
a) Genetic studies carried out in the context of Assisted Reproduction
Both in the study of the causes of infertility and in the selection of gametes donors. These studies include both cytogenetic (karyotypes, FISH, etc.) and molecular tests, including the Recessive Disease Carrier Test.
Preimplantation Genetic Diagnosis benefits from the application of new technologies (arrays, mass sequencing), replacing conventional techniques (FISH, Sanger). Through these procedures we can effectively respond to many risk couples for family genetic pathologies.
b) Prenatal Diagnosis
Both by non-invasive techniques (NIPS) to detect certain common chromosomopathies, such as Down syndrome, in maternal blood (with no risk of fetal loss) by studying circulating fetal DNA, and by invasive techniques (with risk of fetal loss) such as amniocentesis or corial biopsy. The combination of ultrasound, cytogenetic (karyotype, FISH, arrays) and molecular (NGS panels, exoma) techniques achieves a very significant increase in the diagnostic power of these invasive tests: in the last decade, the prenatal study had a diagnostic success rate of around 4%, whereas today, with the combined use of these techniques, figures between 20% and 30% are reached.
c) Preconceptional Counseling
It is very important, both for couples with a family history of a genetic disease and for couples without a history, to carry out a pre-gestation consultation in which the risk of suffering from certain congenital and genetic pathologies is assessed. Depending on the needs of each couple, a specific protocol can be designed to eliminate or minimize the risk. For this consultation we have, among other techniques, the Test of Carriers of Recurrent Diseases, which allows us to detect in a couple which pathologies they are carriers of, allowing the establishment of specific diagnostic strategies.
3. Cardiology: study of patients with arrhythmias, congenital heart and vascular diseases, etc. Given the rise of sport in all its forms in developed countries and in order to rule out pathologies that can trigger sudden death, NGS panels have been developed to study the genes involved. This procedure is recommended for all those who practice a sport on a regular basis.
4. Oncology: it is very important to detect cases of hereditary cancer, which allow the adoption of prophylactic measures in people at risk. Special mention of breast/ovarian cancer, in which the detection of mutations in at-risk people in a given family conditions a whole protocol of action, which may include prophylactic surgery.
5. Other specialties that often require genetic tests and consultations: Ophthalmology (glaucoma, cataracts, pigmented retinosis, etc.), Dermatology (neurofibromatosis, pigmentation anomalies, ichthyosis, etc.), Psychiatry (schizophrenia, antisocial behaviors, etc.). In all clinical specialties there are patients in whom a genetic pathology must be suspected and, therefore, are candidates for a Genetic Consultation.
6. Although at present the body of scientific knowledge of certain aspects of applied genetics is not very developed (Pharmacogenetics, Nutrigenetics, etc.), there is sufficient scientific basis to offer this type of studies that allow us to assess the type of response (according to a particular genotype) to a particular drug or nutrient.
1. Patient assessment referred by a clinician.
2. Define in each case which is the best diagnostic strategy and which people should be studied. A protocol of action adapted to each case should be established.
3. Carry out the corresponding genetic studies (cytogenetics, arrays, NGS panel, exomas, carrier tests, etc.).
4. To inform patients of the results obtained, as well as the characteristics of each pathology (mode of inheritance, evolution, etc.).
5. Evaluate transmission possibilities as well as the techniques to be applied in Assisted Reproduction to avoid the specific problem.
6. Serve as specialized support for the clinician in genetically based pathologies.
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