by Maria Giovanna Faiella
Currently, exome analysis and other fundamental genetic investigations to identify “mysterious” pathologies are not paid for thanks to a generic exemption code, which however has been eliminated in the new Lea (not yet in force)
Silvia, 11 years old, had a mysterious illness until four years ago, when it was discovered that she has CTNNB1 Syndrome (name of the mutated gene), a very rare and insidious pathology from which around twenty children in Italy and around 300 in the world suffer. Her mother Mirella says: «My daughter was ill, but she couldn’t understand what was wrong despite the many tests carried out in hospitals throughout Italy.
The diagnostic odyssey ended after eight years thanks to a genetic test, the analysis of the exome: knowing the name of the disease, even if to date there is no cure, allowed us to get involved with other families to stimulate research, in the hope that at least treatments will be found to improve the quality of life of children.”
Sick people looking for a diagnosis (and a cure)
Like Silvia, there are other sufferers looking for a diagnosis (and a cure). Today, thanks also to the technological revolution that has affected genetic and genomic analyzes in recent years, significantly reducing costs, it is possible in many cases to identify the genetic mechanisms underlying many diseases more quickly. It is the first step in taking care of the patient and understanding whether there is a cure or the possibility of developing new therapies.
But exome sequencing and other genetic tests fundamental for the diagnosis of rare and very rare diseases are not included among the specialist outpatient services that are available to patients paid by the National Health Service, as they currently do not fall within the essential levels of assistance (Lea ).
And if up to now it has been possible to prescribe these genetic tests exemptly, thanks to the use of a generic code, they could soon be paid for as they have not been included in the new nomenclature of outpatient specialistswhich will come into force in January 2025 after yet another postponement.
Revolution in genetics, updating the essential levels of care
Yet more than a year ago the Italian Society of Human Genetics (Sigu) raised the alarm. «As a scientific society we have pointed out that there are prescriptive inconsistencies – explains Daniela Zuccarello, medical geneticist at the Clinical Genetics Operational Unit of the Padua University Hospital -. For example, trio exome sequencing, a test that today allows us to investigate thousands of genes to identify potential genetic anomalies, was not included in the previous LEAs as it was not available at the beginning of the 2000s; subsequently, it was never introduced as a specific code for “exome analysis”, even though we geneticists, to prescribe the test paid for by the Health Service, used a generic code for “DNA sequencing”, which however was eliminated in the new version of the Lea nomenclator of 2017, but whose setting dates back to 2014″.
«In its place, codes have been introduced that allow small groups of genes to be analyzed; but in 10 years, thanks to new molecular technologies, there has been a revolution in genetics: today it no longer makes sense to analyze one or a few genes at a time, both from an economic and time-saving point of view. For this reason, the new Lea services, although they have not yet come into force, are already inadequate and must be updated with the inclusion of investigations that we now use daily, such as exome analysis, Dna circulating fetus, preimplantation genetic diagnosis”.
10 thousand known rare diseases (but free investigations for only a thousand)
When the new tariff nomenclature comes into force, another problem may explode. «In case of suspicion of a rare disease, in order to prescribe the genetic tests useful for identifying it in exemption, the pathology must be present in a specific list (Prime Ministerial Decree Lea 2017, Annex 4 – Medical genetics, ed.) which contains around a thousand genetic diseases compared to over ten thousand pathologies known so far, and the specific exemption code must be used. In practice, if the pathology is not on the list, it will not be possible to prescribe certain necessary, very expensive tests in exemption on the NHS prescription. But it is impossible to create a code for every genetic disease – underlines Dr. Zuccarello –. It would be appropriate, however, to group rare diseases by organ or type, for example, diseases of the eye, liver, bones, so that the geneticist, within those groups, can prescribe the appropriate tests.”
Update the list based on the Orpha code rating
Yet the law no. 175/2021 (Consolidated Law on rare diseases, art. 4, paragraph 4) provides that, to protect the health of rare disease patients, pending the completion of the procedure for updating the LEAs, a Decree of the Minister of Health (in agreement with the Minister of Economy) updates the list of pathologies, identified by the National Center for the rare diseases of the Higher Institute of Health, based on the Orpha code classification, present on the Orphanet portal. To date it has not been issued.
Discrimination between patients based on residence
The Regions with their accounts in order can use their own resources to guarantee residents services – including genetic tests – in extra-Lea methods, i.e. not included in the essential levels of assistance. The Regions in the recovery plan (almost all southern) cannot do this. Not only is there this discrimination between patients, but there is also another risk, which should be avoided. Dr. Zuccarello reports this: «In recent months the Regions are developing their own regional catalog of specialist services: it would be important for all of them to license the same scheme of services linked to the branch of genetics, in order to avoid unequal treatment in the provision of exams to patients residing in other Regions. In fact, if a Region remunerates some genetics services more expensively, there is a real risk that non-residents will have to pay the economic difference in the cost – the geneticist points out -. Thus, further inequalities are created between rare disease patients from different regions.”
Fetal DNA and preimplantation diagnosis
«Prenatal genetics services that have been in use for years in our country, but which are the almost exclusive prerogative of private healthcare, remain outside the essential levels of care – reports Dr. Zuccarello –. Despite Sigu’s repeated requests to the Lea updating Commission, fundamental genetic investigations such as the analysis of circulating fetal DNA (highly sensitive non-invasive screening which is carried out in the first months of pregnancy and which avoids the use of procedures) have not been included. invasive) and useful preimplantation genetic diagnosis
to diagnose genetic anomalies of the embryo before transfer to the uterus (in Pma, ed.), avoiding the use of therapeutic termination of pregnancy in the second trimester – underlines the geneticist -. This creates disparity between couples of future parents who can or cannot afford to pay for the service privately.”
April 27, 2024
© ALL RIGHTS RESERVED