In Kazakhstan, a new method of screening of pregnant women will be available before the year's end, about 50 rare hereditary metabolic disorders will be able to detect with the help of the modern equipment. The advanced technology is introduced first ever within the CIS. It was said by President of the Association of Medical Geneticists Gulnara Svyatova at the 2nd Congress of Medical Geneticists.
It is safe for pregnant women. The introduction of microarray chromosomal analysis - full genome analysis that detects micro-chromosomal disorders. We start selective screening of newborns for 49 hereditary diseases. It means by the use of one blood stain, it was possible to hold diagnostics of 50 hereditary diseases. There were no such methods before in the country, and we are to introduce them until the year's end. The device was registered and will be in private clinics," said Gulnara Svyatova.
Almaty holds the 2nd Congress of Medical Geneticists of Kazakhstan. The event's organizers are the Kazakh Healthcare Ministry, the Scientific Centre of Obstetrics, Gynaecology, and Perinatology of Kazakh Health Minister and the regional public organization 'Association of Medical Geneticists of Kazakhstan'. It will be attended by more than 200 specialists from Kazakhstan, Russia, Great Britain, USA, Finland, Italy, Belarus, Tajikistan, Uzbekistan, and Kyrgyzstan.
It has the aim to exchange scientific achievements and clinical experience in the organization of medical and genetic service, diagnostics, prevention and treatment of hereditary and inborn pathologies, to facilitate the development of personalized medicine in our country.
The world both experiences surprise and the respect for our country, as our country prior to Russia covers everything: an examination of pregnant women and newborns is free-of-charge. It is interesting for foreign colleagues to know how the government finds money for that because screening is partly covered at the expense of insurance companies around the world," said Gulnara Svyatova.
Everyone is aware of the environmental disadvantages of Kazakhstan's regions that lead to an increase in congenital malformations. However, the introduction of screening procedures enabled to contribute to decreasing them. For instance, the rate of stillbirths has decreased by 4 times, and the deaths linked with malformations by twice.
From 2007 more than 2.1 million pregnant women, and 2.9 million newborns have undergone screening. 14.2 children with lethal malfunctions and 1732 deaths linked with chromosomal pathologies have been prevented. 398 children suffering from congenital hypothyroidism and 123 children suffering from phenylketonuria have been detected. All of them received timely treatment, if not screening they would be disabled," the speaker said.
Geneticist Damilya Salimbayeva added that it is easy to prevent diseases than to treat them. However, the population often seek medical assistance very late. The modern methods of medical genetics allow to detect pathologies before the stage of birth spacing, the doctors say.
As a rule, pregnant women seek a geneticist very late. If foreign countries have a practice during which a couple seeks advice prior to the marriage to know all risks, then unfortunately in our country it is quite rare. The modern methods of medical genetics allow to make all it prior to birth spacing. The methods of personalized medicine allow to chose an individual approach enabling to hold necessary preventive therapy in order to prevent a risk of having a baby with hereditary diseases," said Salimbayeva.
In addition, the President of the Association of Medical Geneticists outlined the deficit o specialists, as geneticists deal with the work of three/four workers.
We have many proposals, it is a new device, we should pass a staffing table, as there are the regions where only one geneticist work. However, any device does not replace a doctor, his experience and skills to communicate with patients," said Svyatova.
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