Collaborating to advance newborn screening in Kazakhstan

Aigerim Kamzina, PhD, a participant at the Association for Diagnostics & Laboratory Medicine’s (ADLM’s, formerly AACC’s) newborn screening workshop in Kazakhstan, always knew she wanted to be a doctor. Right before graduating from university, her passion pointed her to neonatology, where she cherishes being able to read the expressions of babies and to figure out what might be going on with their health.

Kamzina is the head of the neonatal department at the Scientific Centre for Obstetrics, Gynecology, and Perinatology in Almaty, Kazakhstan, managing the NICU, newborn pathology, and healthy babies' departments.

An important presence at ADLM’s newborn screening workshop held in Almaty this past April, she presented on a metabolic disorder case and provided much needed connections between international visitors and laboratorians from the region.

The workshop, part of ADLM’s Global Lab Quality Initiative funded by the Wallace H. Coulter Foundation, was held in collaboration with the Kazakhstan Association of Medical Laboratory Diagnostics (KAMLD), the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC), the International Society for Neonatal Screening (ISNS), and the Centers for Disease Control and Prevention (CDC).

When recalling challenges Kazakhstani laboratories face, Kamzina mentioned that they don’t have tests available for many of the diseases that newborn screening should cover. Her hope is to increase the number of congenital conditions that Kazakhstani labs can screen for and to shorten the time period between taking a blood sample and receiving a patient’s results. Currently, it can take around 10 days to obtain results after testing, and even longer in more rural areas of Kazakhstan.

Kamzina’s presentation covered the case of a newborn with a metabolic disorder that she had dedicated her time to over the past year. “I tried to show [attendees] which problems we had,” she said, “how we could solve them today, and how we could prevent them in the future.”

The presentation sparked several discussions with her colleagues and international speakers alike. In one such conversation, Dianne Webster, PhD, vice president of the ISNS and a speaker at the workshop, advised Kamzina and her team to take a blood sample the day of birth, 2 weeks after birth, and potentially again before discharge.

Webster said, “When people don’t have enough thyroxine, the body increases the level of thyroid stimulating hormone (TSH) to make more thyroxine. Very premature small babies can’t do this, as their hypothalamic pituitary axis isn’t sufficiently developed, so they have low thyroxine and normal TSH, which is why most places have a special protocol for collecting further samples from the smallest babies.”

After the workshop, Kamzina and her team worked to implement some of the ideas developed during the event and in subsequent discussions. In one effort headed by Damilya Salimbaeva, PhD, they requested the results of every newborn screening test conducted in Kazakhstan to gain a better understanding of the newborn screening data throughout the country.

Kamzina’s experience and efforts since the event indicate how much the workshop helped establish a productive connection between laboratory scientists in Kazakhstan and speakers from other organizations within the region and around the world — connections that, according to Kamzina, “will be a benefit for all of Kazakhstan, and not only for our hospital.”