Five powerhouses join forces to tackle newborn screening in Kazakhstan
by Michael J. Bennett, PhD, FRCPath(ret), DABCC, FADLM
In April 2024, I was honored to chair and speak at an Association for Diagnostics & Laboratory Medicine (ADLM) workshop on neonatal screening for metabolic diseases in Almaty, Kazakhstan. This was a program within the Asia-Pacific Working Group and a continuation of a program first started in 2017 during my presidency of ADLM. This program was held in partnership 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). It took place concurrently with the KAMLD annual meeting.
Speakers at the workshop included James Bonham, PhD (president of ISNS), who presented via Zoom; Carla Cuthbert, PhD (chief of the Newborn Screening and Molecular Biology Branch of the CDC); Dianne Webster, PhD (vice president of ISNS); and a number of local speakers who reported on the current status of neonatal screening in Kazakhstan., The most notable of these local speakers was Damilya Salimbaeva, PhD, who leads the national program in Almaty. Presentations were also provided by local advocates of expanded neonatal screening and representatives of the regional health department.
Prior to the workshop, we were given tours of the major hospitals providing pediatric healthcare and of the laboratories within the healthcare system, so that the committee might help develop a plan for furthering development of neonatal screening. The present state of neonatal screening, which is mandated in Kazakhstan, is that all newborns are screened for phenylketonuria and congenital hypothyroidism. The goal is to expand the program to include screening by tandem mass spectrometry. The workshop aimed to help define a pathway towards eventually reaching that goal, and work on this has continued after the workshop via Zoom meetings.
There was excellent attendance at the workshop, and robust Q&A sessions with very knowledgeable questions from the audience, most of whom stayed at the workshop, even when time for questions at the end of each day went on for a considerable time beyond schedule.
A direct outcome of the workshop came in the form of a letter sent from the Scientific Centre for Obstetrics, Gynecology, and Perinatology in Almaty to the Ministry of Health. Aigerim Kamzina, MD, reported that her team had written to the Ministry describing her center’s initiative to “carry out all monitoring, registration, and analysis of neonatal screening in Kazakhstan.” She also reiterated that the conference attracted interest from doctors and laboratory specialists and had a profound impact.
After the workshop, we were treated to an outstanding local culinary experience hosted by the chief of staff of the hospital and attended by many of the local speakers. We continue to be in touch with our hosts and are committed to helping to make the expanded neonatal screening program work to improve the lives of even more children.
Michael J. Bennett, PhD, FRCPath(ret), DABCC, FADLM,. is professor emeritus of pathology and laboratory medicine at the University of Pennsylvania Perelman School of Medicine.
The ADLM/KAMLD workshop was conducted as part of the Global Lab Quality Initiative funded by the Wallace H. Coulter Foundation. For any society interested in partnering on a similar workshop, please contact [email protected].