18:41 01.06.2021

Necessary to create system for prevention of orphan diseases in Ukraine – opinion

3 min read

KYIV. June 1 (Interfax-Ukraine) – In Ukraine, it is necessary to create a system for the prevention of orphan diseases, in particular, spinal muscular atrophy (SMA) and cystic fibrosis, vice-president of the Ukrainian Association of Reproductive Medicine Valeriy Zukin has said.

"Prevention is a screening of married couples [for the latent carriage of genetic diseases, in particular SMA and cystic fibrosis]. Ukraine should have a system that consists of prevention, early neonatal screening and treatment," he said at a press conference hosted by Interfax-Ukraine on Tuesday.

Zukin said that such a screening is carried out all over the world at the expense of patients.

In turn, pediatric neurologist, PhD in medicine Volodymyr Martyniuk said that Ukraine lags behind in terms of prevention.

"As for prevention, here Ukraine is lagging behind. The point is that at present in Western Europe, the United States and Japan, newborn screenings for approximately 20-70 diseases are being carried out. This is a great breakthrough for diagnosis, prevention and early therapy. In Ukraine, there are officially four, and unofficially, two diseases in screening," he said, adding that, for example, for Kyiv, a preventive direction would cost UAH 7 million annually, and treatment would cost UAH 70 million.

Martyniuk said that the Ministry of Health of Ukraine is starting to take "the first steps in creating a system."

"The Ministry of Health has created a working group to study the possibilities of preventing and diagnosing SMA. We hope that the state will establish diagnostics of this group of diseases free of charge for families. For this it is necessary that the state allocates funds for reagents, because there are a laboratory, specialists and opportunities to start this diagnostics literally tomorrow. There is only no organizational decision on the allocation of funds for the purchase of reagents for this laboratory," he said.

At the same time, it is still impossible to provide treatment for more than 270 families with children diagnosed with SMA at the expense of the state, the expert said. After all, the drugs are expensive "this is almost the entire budget of the Ministry of Health."

In turn, neonatologist Yelyzaveta Shunko said that in Ukraine the system of neonatal screening and further diagnostics regarding cystic fibrosis does not always allow a timely diagnosis.

She also noted the need for family doctors to timely inform married couples who intend to have a child regarding the prevention of rare genetic diseases.