Genetics, the; interview with Dr. Germano.ssa Martina Germano

Genetics is the branch of biology that studies genes, heredity, and genetic variability in living organisms. In medicine, genetics is the one that has made the most progress in the last two decades. Through the study of genetics, medicine has been able to identify the cause of even very serious diseases that depend on alterations in an individual’s genetic makeup.

Starting with Down syndrome, up to rare genetic diseases that are particularly severe and for which adequate therapies have not yet been found except at an experimental level. We interviewed Dr. Martina Germano who will help us understand the figure of the genetic counselor.

Tell us about the figure of the genetic counselor:

The genetic counselor is one who performs a medical act aimed at informing an individual or family that they are, or believe they are, at risk of genetic disease. So a figure who helps the counselors to know the medical facts (diagnosis prognosis and possible treatment) to understand the hereditary mechanism behind the disease (transmission, risk of recurrence) to know the possible turns according to the risk provided (peristomatic identification, prenatal diagnosis, assisted fertilization, adoption) to choose the behavior most appropriate for them and accept the disease in the best way. I like to define genetic counseling as a “pathway” where the geneticist (whether biologist or physician) accompanies the patient on the journey from the administration of the genetic test to the explanation of results, accompanying them.

When to seek genetic counseling and why?

Certainly it is that genetic counseling should be offered before the administration of any genetic test, because it is a delicate moment for the value that the genetic data assumes in terms of diagnosis prognosis and predictiveness, in the same way then at the time of the collection of the report, in support of the patient, for the explanation and acceptance of the results should it now prove positive. In general, it can be divided into two stages, genetic counseling at a stage prior to conception and at a stage following conception: At a pre-conception stage: -Counseling may be requested to obtain pre-conception information, for example, a couple who are planning a pregnancy and who want to approach procreation in a more conscious and responsible way by performing tests that can predict the occurrence of genetic diseases in offspring.

Or in the case of IVF, consanguinity between the parents, or even if you have a previous affected child an affected relative, an affected parent, and you want to study the likelihood of the latter disease recurring in the offspring. -In case of infertility, infertility, or if there have been repeated miscarriage events, there could be a genetic reason in one or both partners, and not have known about it until then. -When contemplating pregnancy but either parent has a chromosomal abnormality/heterozygosity for autosomal recessive or X-linked disease in the parents genetic risk (maternal age, mutagenic exposure) At a postconceptional stage: -when faced with an altered screening test, such as a duo test, or an altered diagnostic test, such as an amniocentesis.

When there is suspicion of a genetic disease, pediatric and otherwise. -In cases where the parents even if they have been exposed to mutagenic agents in the past through accidental or occupational causes, or if during the early months of pregnancy one had an infection. I conclude by pointing out that to this day through the Internet, one can learn about news of any kind regarding a complex topic such as genetics, and if the reader is not from the field it can, instead of clarifying, create doubt and induce anxiety and fear. So genetic counseling can also serve simply as a clarifier of doubts that sometimes are not easy to settle if one is not from the field.

What the counseling consists of?

It depends on the reason for which counseling is sought. There is first-level counseling, in which the geneticist (biologist or physician) clarifies the modalities, advantages, and limitations of a genetic test the proband wishes to undergo. Second-tier counseling, in which the geneticist (biologist or physician) studies a clinical case and the family of which a precise diagnosis has already been made, assessing the need to extend specific examinations to other members of the family tree, and assessing and specifying the risk of recurrence that exists for that family lineage in relation to the genetic disease that has occurred. Third level consultations, or clinical genetics consultations, in which the clinical geneticist (physician) performs a medical examination of the affected individuals in the family and, by possibly also prescribing extensive tests, issues a specific diagnosis of the pathology that has occurred in the family.

A typical genetic counseling usually consists of these steps: The patient lays out his or her problem and the counselor studies the clinical record.

1. Family history and family tree reconstruction.
2. Clinical examination of the proband and possibly family members, in the case of Level III counseling.
3. Request for instrumental investigations and laboratory tests.
4. Discussion of informed consent, if necessary.
5. Diagnosis.
6. Risk assessment.
7. Communication of the result: remember that counseling should not be directive, but only informative Follow up.

Each counseling will conclude with the delivery, immediately or in the days following the last interview, of a thorough written report, where all the steps and results obtained will be described.

One’s thoughts toward research and where it can go

Research is the future

It is thanks to research that today, when faced with a patient with a probable genetic disease, in more than 55% of cases, we are able to arrive at a satisfactory diagnosis. So it is thanks to research if the scientific community has made strides in the diagnosis, treatment and especially prevention of some diseases that yesterday, had no cure, if you think of the advances that are being made in the field in immunotherapy to treat cancer, these are things that 10 years ago seemed impossible, and instead today are possible and real, thanks precisely to research and especially to Italian researchers who are the real heroes, as they work in conditions of embarrassing salaries and precariousness. Research is the means by which we can understand the mechanisms underlying cellular malfunction that are responsible for some diseases, to date without cure, and with the right economic support and time can be understood.

In other words, research can be seen as the means that can lead us to an understanding of the defect and thus to the cure.