The Ministry did not consider testing newborns for immunodeficiency, doctors are preparing an application Business

“The Ministry of Health has not received the proposal, the justification to add disorders related to immune mechanisms to the list of universal newborn screening, and has not considered it accordingly,” SAM representative Julijanas Gališanskis said in a comment submitted to BNS.

According to him, the Lithuanian Society of Human Genetics, the Lithuanian Society of Rare Lung Disease Doctors and the Lithuanian Association of Children’s Neurologists provided suggestions and justification for the expansion of the list from four to twelve diseases approved last year.

Applications are also open to university hospitals.

As Laura Malinauskienė, the president of the Society of Allergists and Clinical Immunologists of the Vilnius Region, doctor of Santaras Clinics, told BNS, after the press conference held at the end of April, the clinic’s geneticists became interested in the initiative to add newborn testing for immunodeficiency to the list, but the process is complicated.

“In reality, I think the application could be submitted in March of next year. (…) Preparation of the application includes assessment of economic feasibility, scientific and other aspects. We are in this process, but it is a very difficult thing to make economic feasibility especially for non-medical forces”, said L. Malinauskienė.

“There is a nuance, the right to consult children was taken away from allergists-clinical immunologists a couple of years ago, so this is where the initiative of our free time is. Pediatric allergists should deal with these things, but somehow they don’t move,” the doctor added.

According to J. Gališanskis, the evaluation of the addition of the universal list of diseases for newborn screening is based on five criteria according to the recommendations of the International Society of Newborn Screening.

The Ministry assesses whether the disease is an important health problem and occurs often enough, whether the course of the disease is well understood, whether its examination methods are uncomplicated and non-traumatic, whether systematic health care of the patient is ensured after the diagnosis of the disease, and whether there are effective treatment methods and reasonable benefits of early screening for the newborn.

“In order for the aforementioned list of diseases to be expanded, an application must be submitted to the Ministry’s Personal Health Care Services Evaluation Committee, the disease proposed to be included must meet Wilson & Jungner criteria, additional budget funds of the Compulsory Health Insurance Fund (PSDF) must be planned,” said the SAM representative.

Over one and a half thousand new cases of immunodeficiency were recorded

According to the Institute of Hygiene’s preliminary data for 2023, last year there were about 2.7 thousand people suffering from various types of immunodeficiency in Lithuania, over one and a half thousand new cases were registered – this is the highest number of new cases of the disease since 2018.

According to J. Gališanskis, the cost of an outpatient consultation for immunodeficiency patients reimbursed by the PSDF budget varies from 25 to 100 euros, one thousand euros are needed to pay for one patient’s consultation a year.

The costs of reimbursed medicines range from several tens to several hundred euros, the price of inpatient treatment – from 464 to 5.5 thousand. euros.

For an allogeneic hematopoietic stem cell transplant, which, according to doctors, allows the child to live a normal life if performed at an early stage of the disease, PSDF funds compensate from 200,000. up to 250 thousand euros.

One million euros for universal screening of newborns

According to the data provided by J. Gališanskis, last year 384 thousand was allocated from the PSDF budget to pay for the service of newborn screening for rare diseases. euros, last year – more than a million euros. In 2023, 16 diseases were diagnosed during the inspections.

As the SAM representative pointed out, screening of newborns for rare diseases has existed in the world for more than five decades, the number of diseases for which newborns can be screened exceeds 60.

In Italy, newborns are checked for 48 diseases, in Poland – 29, in Sweden – 26, in Estonia – 20, in Germany – 18, in Latvia – 6, in Bulgaria – 4, in Cyprus and Romania – for 2 diseases.

In Lithuania, newborns were screened for phenylketonuria in 1975, for congenital hypothyroidism in 1993, and for galactosemia and congenital adrenal hyperplasia in 2015. During this period, 405 cases of the mentioned diseases were diagnosed.

At a press conference held in April, doctors urged babies to be checked for congenital disorders of the immune system, as this allows for the complete cure of immunodeficiency.

“Babies are not screened for immunodeficiency in Lithuania, which is a great pity and we hope that the situation will improve in the future,” Edita Gasiūnienė, head of the Primary Immunodeficiency Center of Kaunas Clinics, said at the conference.

According to her, if a bone marrow transplant is performed before the child has had the first infections, but after a genetic defect has been detected, in principle the child is healthy and can live a completely normal life.