What does a genetic counselor? Well, nothing better than asking it to one of them. Today we talk with Dr. Anna Abulí, a genetic counselor at the Dexeus Women’s Health Clinic in Barcelona, who has been practicing this profession after a Ph.D. in Biomedicine and two Masters (Genetic Counseling and Clinical Analysis Laboratory).

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Hi Anna, you’re currently working as a genetic counselor at a clinic. But how did you approached genetics and medicine in the first place?

I had the opportunity to perform the end-of-course rotation (Human Biology at the Pompeu Fabra University) in the Family Cancer Genetic Counseling Unit at the Hospital del Mar in Barcelona. There I thought that my ideal job, if one day I could get it, would be genetic counseling. Motivated also by the research, I did the doctorate in biomedicine on the genetics of cancer. During this time, I realized that I wanted to move genetics to a more clinical setting and to have more direct contact with the patient. I decided to study the master’s degree in genetic counseling offered by Pompeu Fabra University, and when I finished it I was lucky enough to get a job as a genetic counselor at the University Hospital Dexeus, where I am still delighted with my work.

What do you do in your work as a genetic counselor?
The advances in genetics in the last decades have been spectacular, however, this knowledge has not always been transferred to patient care and, currently in Spain, there is no accredited professional who is responsible for advising patients and families with diseases. The genetic counselor is the figure within the health system that is in charge of helping and guiding the patient or families in all decision making regarding genetic risks that exist, usually families that have a hereditary disease or are at risk of suffering it. His task is to monitor the patient from the initial point when a genetic risk is identified, accompanied by the psychological support given the special features of genetic diseases.

First, a genetic counselor collects the entire family history and all the clinical information regarding the family to identify genetic risks. With this information and a bibliographic review, the counselor delivers the relevant information in an understandable way to patients and families so that they can decide on reproductive or therapeutic choices, and allowing them to find the best lifestyle to live with this risk or with the genetic disease.  We often notice that all the terms used in genetics are very complex; despite that, we need families and patients to understand the risks well and to make an informed decision about their disease.

In what cases can a genetic counselor help? Can you give us some examples?

The genetic counselor can help in many different diseases or moments of life. For example, when a genetic disease is identified, during the planning or the course of a pregnancy, or in families with a risk for a particular type of cancer, since the genetic counselor can identify the relatives at risk and adapt a monitoring or others prevention measures.

For example, a genetic consultation following the appearance of a case of cystic fibrosis in a family evaluates a detailed family tree to reach a genetic diagnosis and identifies relatives at risk of being carriers. This helps to evaluate all the possible decisions: to avoid having offspring in order not to transmit the disease, to make a prenatal diagnosis, to request a preimplantation diagnosis to select a free embryo of the altered gene or simply to know the risks and to receive support in case of no action.

And regarding preconception and prenatal issues, what genetic applications are the most powerful today?

In preconception and in the prenatal field the recent technological advances in genetics and those foreseen in the near future aim at a preventive and personalized medicine. They are already evident, for example, in prenatal screening for the detection of chromosomal abnormalities such as Down’s syndrome. Today, there is a genetic test that detects fetal DNA in the mother’s blood that allows us, in comparison with conventional screening methods, a higher detection rate for Down syndrome, as well as the possibility of performing it at a earlier gestational age (since week 9 of pregnancy) and with only one blood sample taken from the mother. This genetic test has represented a very important advance for the detection of this type of genetic abnormalities and mainly for patients who do not wish to assume the risks associated with amniocentesis. Similarly, the incorporation of genomics in preconception allows today to detect if a healthy couple is at risk of transmitting a serious genetic disease to their future children, through the new genetic tests of carrier screening. These genetic tests analyze a large number of genetic diseases (usually severe and frequent, such as cystic fibrosis, beta thalassemia, hereditary congenital deafness, hemophilia …), detecting if the future parents are carriers of the same genetic alteration. If in a couple, the man and the woman have a mutation in the same gene, they can transmit these alterations to the child: the child could be born with the two mutated copies of the gene and have this serious disease. We can detect this before pregnancy when a couple plans their reproduction, and offer this couple reproductive options that best suit their needs.

Let’s say we are in an ideal world where we already know how to decode everything about the DNA, what analysis would you do to satisfy your curiosity?

Today genomic technology is capable of accessing all the information in our genome in a very fast way and with smaller and smaller costs. Although we can decipher part of our genome, and know the risk for some diseases, we still have a lot to work on to fully interpret it.  In an ideal world (and already a reality in some clinical settings), I would sequence the entire genome and use its information at various stages of my life. For example, while planning a pregnancy to know the risk of transmitting diseases to my children, or at the occurrence of a cancer case in my family, potentially hereditary, I would probably consider knowing the information regarding the genes associated with cancer predisposition. In the case of surgery or taking certain types of drugs, I would probably find useful to know my pharmacogenomic data, that is, if I have any type of genetic variant that can influence my treatment or help to select the most effective drug.

In general, I probably would like to know only that information that would allow me to choose preventive measures or a personalized medicine.