The future is within you

This article is published in Vanity Fair issue 2-3 on newsstands until January 18, 2023

“Do you have children?”

“One”.

“She’s lucky, think about raising him.”

The oncologist tells him right away: Maria Bianco will not be able to have any other children. At the age of 33, she was diagnosed as being very aggressive breast cancer. It was 2007. At the time, no one proposed the possibility of freezing eggs. Along with surgery to remove the tumor, chemo and radiation therapy, she is put into early menopause, as per practice. Ten years later, a recurrence forces her to have a mastectomy of the diseased breast. At the same time, his mother and aunt also fall ill. At that point, the medical team suggests that she undergo a genetic test to understand if one of the two mutations, called BRCA1 and BRCA2, which can cause the onset of this type of disease, is present in her DNA. Maria tests negative, but hers
oncologist does not give up. Analyze a larger genomic panel and find the ATM variant, responsible for a 47 percent risk of developing female cancers. «For me it was a very high percentage», says Maria, now 49 years old, originally from Campania and Roman by adoption, employed in an insurance company, survived cancer and Pink Ambassador of the Umberto Veronesi Foundation. “It was like tossing a coin in the air: heads I’m safe, tails I’ll get sick again. I cling to the love for my son and choose to fight: I agree to also remove the healthy breast and, subsequently, the ovaries as well. Today I live, full of scars but alive. It took me a while to show myself naked in front of my husband. It also took me a while to regain the desire for intimacy because the breast, for me, was a starting point for pleasure, and now I no longer feel anything there».

Maria Bianco, like Bianca Balti a few weeks ago, like Angelina Jolie ten years ago, has chosen to predict the future. And to deal with it in time. You were able to do this thanks to predictive genetic tests that are changing the face of medicine. “In the past, you only went to the doctor if you were already sick, today you also go to the healthy, not only to prevent it, but to find out if you could get sick later,” he explains. Laura you get, molecular oncologist, Airc researcher and professor at the Sapienza University of Rome. «These tests, which can be performed with a simple blood sample, in fact, look for some genes in the DNA which, if mutated, predispose the individual to the onset of certain diseases, including breast, ovarian, prostate, colon and stomach.

Thirty years ago tests could only be performed in the United States, they were very expensive (up to 10,000 dollars) and it took up to six months to get the results. Today they give results within a few weeks, cost a few hundred euros and, in Italy, they are passed on free of charge by the National Health Service to all those who, like Maria Bianco, fall within the “guidelines”, by type of disease investigated, age and above all, family history.

What if someone wants to do them even without being familiar with those tumors? Marco Pierotti, Scientific director of the Cogentech laboratory, replies: «It happens very often. When the news comes out that a star like Bianca Balti, following a genetic test, undergoes a preventive mastectomy, hospitals and laboratories are filled with panicked people who ask to be tested even without ever having had a case of cancer in family”. Are they satisfied? “Impossible,” he explains Paolo Veronesi, director of breasts at IEO and president of the Umberto Veronesi Foundation. «DNA screening is subject to a request from the geneticist who, by analyzing the patient’s age, state of health and family situation, verifies compatibility with the guidelines. Let’s take breast cancer: in 2022 there were 55,700 new cases, of which only 5-10 percent have a genetic mutation. It would make no sense to test everyone who is sick, let alone everyone who is healthy. This will probably happen in the future, when the costs of the tests will be further reduced and it will therefore be possible to think about a generic screening on the population”.

Moral, today an ordinary healthy citizen eager to know his future doctor has no one to turn to? «He can go abroad, to Switzerland for example, or to a private laboratory. But we advise against it», continues Veronesi. Because? “Because the tests don’t tell you whether you’ll get sick or not, they give you percentage probabilities which, however, are useless if you don’t know how to contextualize them”, replies the Airc researcher Ottini. “If a test tells you that you have a 20 percent chance of getting cancer, is that a lot or a little? What do you have to do about it? And most importantly, how can you make a decision without knowing the time frame in which the disease could manifest itself? Tests convey numbers, but medical expertise is needed to understand them and to help the patient decide what to do next, from active surveillance to surgery. Today, however, companies are proliferating that offer low-cost genetic tests, sometimes even with discounts». Googling you can find exams for sale for 89 euros. «When you buy it, you must give consent to the information about yourself that you will convey. At that point they deliver a kit to your home. Take a saliva sample and return it to the sender. Within a few days, you get your list of genetic alterations, we all have some, which will tell you, for example, that you are predisposed to thyroid cancer, diabetes and Alzheimer’s. It is a pity that these are diseases caused by a combination of factors and not by a single genetic mutation. Such information only serves to scare those who read it, and to give away a large packet of sensitive data to those who sell the kits».

What happens to this sensitive data? “If the test is performed in hospital, they remain secret,” replies Dr. Veronesi. “Only the geneticist knows the identity of the person undergoing the sampling: the analysis laboratory receives anonymous test tubes, equipped with identification codes”. If, on the other hand, the tests are done privately, there are at least two major risks. He explains them I drive Zest, member of the Privacy Guarantor: «The first, if they end up in the hands of insurance companies, they could prove refractory to take out policies for people with genetic mutations and their families. Second, employers with this information could use it to select staff: who on earth would want to hire someone likely to get cancer? For this reason, workers must be careful if their company decides to offer such tests to employees free of charge.

Operationthis, bordering on the legal. «In Italy», continues Guido Scorza, «the knot on the commercialization of personal data has not yet been resolved, for now regulated by free consent. But when can a consent be said to be truly free? A subordinate employee may feel obliged to agree to take the test. Just as a less well-off person will certainly be more inclined to commercialize their data than those who are economically advantaged. This mechanism undermines the universality of the right to privacy, which will be less effective with the less fortunate. On the other hand, the Italian privacy law, which follows the European directives, is exhaustive in principle, but struggles to keep pace with scientific progress. When it was promulgated, for example, there were no genetic tests accessible to everyone on the Internet.

Soon, however, the tests could be accessible to everyone, and not just on the Internet. This portends, on the one hand, the lowering of costs due to technological democratization (sequencing the human genome cost over 95 million dollars 20 years ago, today it is almost 700). On the other hand, the dizzying expansion of the related turnover which, according to the Genomic Observatory, will reach 82.6 billion dollars in 2028, four times the 2019 figure (18.9 billion).

There are also a couple of studies that highlight the benefits of a test on the entire population», explains Pierotti. “Research conducted in Northern Europe on people with breast cancer showed that 50 percent of individuals with the genetic mutation would not fall within current hospital guidelines. This means that someone can carry a mutation even in the absence of other cases in the family. Another project, in Canada, has shown that a generic screening of the population traces a much greater number of mutations and saves a lot to the Health Service which invests in prevention rather than in treatment. Of course, for such a move a great political will is needed and an equally great openness on the part of the population».

It is to be hoped that this will happen as soon as possible, so that a story like that of Eleonora Graffione will never repeat itself again. 60 years old, Genoese, mother of three, manager in the food sector and Airc testimonial, fell ill with breast cancer for the first time in 2007. Since her mother had also had this disease, Eleonora immediately asked for a genetic test. But in 2008 she seemed to fall outside the “guidelines”. Five years later the doctors changed their minds: at the same time her mother had had a recurrence and her sister had discovered ovarian cancer. In 2013 Eleonora takes the test: «We test positive for BRCA1 myself, my sister and two of our four daughters, one each. Shortly after, unfortunately, my sister can’t make it. That’s the thing that makes me the most angry: if we had taken the test in 2008, maybe she would still be here with me.”

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