Ovarian cancer, from the Esgo Congress an appeal from clinicians and patients: “Genomic tests for all women”

Hrd, or Homologus Recombination Deficiency. These are homologous recombination deficiencies that include, for example, mutations in the Brca1 and Brca2 genes, and they are able to guide the choice of the most effective therapy. Currently, half of ovarian cancer cases present alterations in the genes involved in DNA repair. Even for these cases, effective drugs exist today, but in order to prescribe them, the HRD test is needed, which identifies these genetic deficiencies. This is why this test should be performed on all women at the time of diagnosis, but unfortunately this is not the case at the moment. It is like owning a latest-generation racing car, powerful and ready to reach important goals, but leaving it parked in the garage because the keys are missing. The HRD test is that key: without it, these innovative therapies remain inaccessible. Its reimbursement and homogeneous accessibility throughout the country cannot wait any longer. The Ovarian Cancer Commitment (OCC) is loudly calling for this - on the occasion of the 26th Congress of the European Society of Gynecological Oncology (ESGO) held in Rome - which reiterates the need to guarantee reimbursement and homogeneous access to the HRD test at the same time as the diagnosis. This was discussed during a press conference that opened with a tribute and the memory of Professor Giovanni Scambia , scientific director of the Fondazione Policlinico Agostino Gemelli Irccs and always at the forefront of gynecological oncology.

Numbers that speak clearly

In 2024, in Italy, approximately 5,400 new diagnoses of ovarian cancer are expected. “It is one of the most lethal gynecological neoplasms, with a 5-year survival rate of 43%, mainly because 80% of cases are discovered in an advanced stage,” explains Anna Fagotti , president of Esgo, full professor of Obstetrics and Gynecology at the Università Cattolica del Sacro Cuore and director of the Complex Operating Unit for Ovarian Cancer at the Fondazione Policlinico Universitario A. Gemelli Irccs in Rome. Unlike other tumors, there are no effective screening tools and 70% of patients with advanced carcinoma face a recurrence within two years. “Precision oncology,” continues Fagotti, “has changed the rules of the game: today there are targeted therapies, such as Parp inhibitors combined with antiangiogenic drugs, capable of achieving long-term remissions and improving quality of life. But these therapies require the HRD test.”

The Ovarian Cancer Commitment

The Ovarian Cancer Commitment (OCC) is an initiative of the European Society of Gynaecological Oncology, the European Network of Gynaecological Cancer Advocacy Groups (ENGAGe) and AstraZeneca. Its aim is to improve knowledge of the disease, quality of life and survival of women affected by ovarian cancer also through the request to guarantee reimbursement and homogeneous access to the HRD test at the time of diagnosis.

DNA: A Road Network to Repair

We think of DNA as a complex road network. When a road is damaged, expert technicians are needed to repair it. Our body has a similar system: homologous recombination. When this system has defects (Hrd), mutations are generated, such as those of the Brca1 and Brca2 genes, which can lead to the development of ovarian cancer. Half of the cases of this neoplasia have these genetic alterations. This is where the Hrd test comes in, capable of identifying these defects and guiding the choice of the most effective therapy, personalizing the treatment for each woman. Yet, in Italy, access to the Hrd test is still uneven. “The homologous recombination defect represents an ‘error’ in the repair mechanism of the double helix of DNA, present in approximately 50% of cases of ovarian cancer,” continues Fagotti. “The Hrd test, which also allows the identification of Brca mutations, must be the first step in a precision medicine approach to define the best treatment and must be performed in all patients at the time of diagnosis”. The Hrd test represents the first step in the precision medicine approach. However, its execution requires advanced technologies and specific software present only in a few specialized centers.

Six requests in the Position paper

The Ovarian Cancer Commitment has developed a Position Paper for equal access to the most advanced treatments. Among the requests made, that of identifying the requirements of laboratories responsible for performing genomic tests that detect Homologous Recombination Deficiency (HRD) by defining the technical requirements of technological infrastructures. Another request is that of guaranteeing reimbursement and homogeneous access to the HRD test at the same time as the diagnosis, to allow for personalized therapeutic planning and the adoption of surveillance and/or risk reduction strategies, through inclusion in the Essential Levels of Assistance (LEA). "The proposal put forward for reimbursement no longer referring to a single gene, as occurred for Brca, but to multi-gene panels, is a promising one", says Nicoletta Cerana , president of Acto Italia. Currently, only three centers in Italy perform over 100 interventions per year, while the majority stop at under 20, not reaching the Esgo standards. Only seven Regions have identified reference centers, another disparity to be filled.

Prevention and exemption: a right for all

Two other critical issues concern both the absence in 12 Italian Regions of Pdta, Diagnostic Therapeutic Assistance Pathway specific for the management of high-risk people and the failure to recognize the D99 exemption homogeneously at national level. "This exemption - Ornella Campanella , president of aBRCAdabra - concerns people who have tested positive for the Brca test and who are at high risk of developing breast, ovarian, pancreatic and prostate cancer. These carriers, healthy or not, should be included in specific surveillance programs aimed where possible at the early diagnosis of these neoplasms. To date, the D99 exemption has only been approved in 10 Regions. It is therefore necessary that it be recognized uniformly across the territory, to reduce the disparity in access to prevention with the risk of a late diagnosis. We also ask that both breast and gynecological risk reduction surgeries be included in the Lea. In fact, it has been widely demonstrated that, in women who are carriers of the pathogenic variant BRCA, surgical removal of the breast and tubes and ovaries significantly reduces the probability of developing breast and ovarian cancer, respectively”.

Olivia's Role: A Guide to the Care Journey

At the Esgo Congress, together with the Italian Society of Gynecology and Obstetrics, the Ovarian Cancer Commitment presented the Italian version of the Olivia website (ovarian.gynecancer.org/it), a digital resource that offers information and support to patients going through the treatment process and that can also be useful for family members, caregivers and clinicians. Olivia is a unique platform, in fact it includes the “ovarian cancer journey”, an interactive tool “designed” according to the needs of the patient at every stage of the disease, from diagnosis, to treatments, to ongoing care until any recurrence. “The Occ - explains Manuela Bignami , director of Loto OdV - created Olivia precisely to provide patients and caregivers with all the information, through an interactive path, ranging from diagnosis, to genetic tests, to treatments up to follow up, including the stories of women who have experienced the disease, a glossary of medical terms translated into a language accessible to all, the list of patient associations and information sheets on topics such as nutrition and physical exercise, relapse and psycho-oncological support”.

The race against time: let's not fall behind

Clinicians and patient associations have addressed these requests to the institutions represented during the press conference by Elena Murelli , of the Senate Health and Labor Commission, who declared: "The institutions must guarantee a complete treatment path, from diagnosis to psycho-oncological support. The HRD test must be reimbursed and accessible immediately, to allow personalized therapies and prevention strategies. Science moves fast, and we cannot afford to be left behind. We must guarantee reimbursement and homogeneous access to the HRD test at the same time as the diagnosis, to allow personalized therapeutic planning and the adoption of surveillance and/or risk reduction strategies, through inclusion in the Essential Levels of Assistance". In short, it is time for Italy to align itself with scientific progress. The HRD test is not just a genetic test: it is a key that can open the door to life-saving therapies. Every day lost can cost a life. And no woman should have to wait.