Who needs a genetics consultation?

Elena Baranova, MD, PhD, Medical Director,  Evogen Medical Genetic Laboratory

According to school memoirs, many associate genetics with such “interesting” topics as pea breeding. Remember: yellow and smooth and green and wrinkled? However, modern genetics is capable of more: to prevent and treat (at least symptomatically) many diseases that until recently were a sentence and could affect anyone - regardless of race, religion, social status and other factors.

In this introductory post of my blog, I will try to briefly identify who needs the advice of a geneticist and why.

What does a geneticist do?

Medical genetics today, first, is aimed at identifying genetic diseases and, in the future, preventing their new cases in the family. Geneticists also help in adapting to life with genetic diseases, if they could not be prevented.

A geneticist is a specialist with a higher medical education (doctor) with an additional specialization in genetics. Patients come to him in the direction from a variety of specialists: obstetrician-gynecologists, neurologists, endocrinologists, dermatovenerologists and others.

In order to effectively advise patients with the corresponding pathology, the geneticist must have a good understanding of both clinical medicine and the tactics of prescribing genetic tests and their interpretation.

Who needs a genetics consultation?

Any specialist doctor who suspects a genetic disease in an adult or a child, the risk of a chromosomal or monogenic pathology in the fetus can send for a consultation. Also, genetic counseling is indicated for couples / people planning a pregnancy, especially if there have been cases of hereditary diseases, malformations, developmental delays, infertility in personal or family history.

However, there are genetically determined diseases that cannot be predicted by the pedigree, since a child with a severe hereditary pathology can be born in a family where there is not a single person with a genetic disease. For example, in cases where both healthy parents are carriers of mutations in the same gene, the probability of having a sick child is 25%. And the frequency of mutation carriers in some very serious diseases, for example, in spinal muscular atrophy, reaches 1/40, i.e. every 40th person in the population has it.

That is why the consultation of a geneticist is needed for any person who wants to be as confident as possible in their health and in the birth of a healthy child.

Geneticist- Family Doctor

Although this is usually about medical consultations with individual family members, the whole family is the true consultant in medical genetics. The fact is that often the calculation of the risk of a genetic disease in the family is made considering the genotypes of both spouses. Another reason is that the occurrence of cases of hereditary diseases can affect the whole family and change the strategy for examining family members.

In new posts, I will tell you in more detail how to rationally plan a pregnancy, whether it is possible to protect yourself from hereditary diseases, and how to understand that for you a consultation with a geneticist is not only desirable, but necessary.