APHL’s newborn screening program goes global

APHL's Jelili Ojodu receives the the Gerard Loeber Award for Contributions to Newborn Screening Expansion in Developing Countries

Outside of the US and other resource-rich nations, few countries have the capital, infrastructure and human resources required to sustain a newborn screening program. Despite these barriers, APHL staff and members have worked diligently to increase access to newborn screening worldwide. In recognition of these efforts, APHL

While much remains to be done to achieve this goal, as more countries consider the impact of non-communicable diseases on their populations, interest in newborn screening is growing. In the last year alone, APHL has received requests for technical assistance to develop or expand newborn screening programs from Brazil, Canada, Ghana, Jordan, India, Mexico, Nepal, Nigeria and Tanzania.

Such interest has led APHL to expand partnerships with nonprofits and governmental agencies to develop newborn screening guidance and resources. For example, APHL has collaborated with the Global Issues Working Group of the Sickle Cell Disease Coalition to develop a Global Resource Library with information on sickle cell disease activities worldwide and a public service announcement. In addition, the association worked with other sickle cell disease advocates to create tools to assess a nation’s needs and readiness to develop a sickle cell disease program. APHL is also currently collaborating with the US Centers for Disease Control and Prevention (CDC), the CDC Foundation, the Pediatric Endocrine Society and Vanderbilt University Medical Center to finalize a document detailing the capabilities required to launch a newborn screening program.

On the ground, APHL continues to extend its reach within Africa, South America, Europe and Southeast Asia. It supports development of implementation plans and strategies, offers related training and shares recent developments in US newborn screening. For example, APHL recently participated in the first Pan-African Workshop on Newborn Screening in Rabat, Morocco, where delegates reported on the status of newborn screening in their countries, and APHL discussed developing a newborn screening case registry to coordinate patient follow up, and infrastructure required for electronic data exchange of newborn screening results.

The association has also been collaborating with partners in India as that country gears up to implement universal newborn screening—a daunting undertaking in a country where 1.5 million babies are born each month. APHL recently teamed up with PerkinElmer to support newborn screening and genetics training for a fellow from Jaipur, whom APHL staff later visited to assess readiness for newborn screening new disorder implementation and technical assistance in that state. Currently, APHL is developing case studies about the benefits of newborn screening to educate physicians in Jaipur, and, with the International Neonatology Association (ISNS), is coordinating with local NBS leaders to explore opportunities to initiate an ISNS chapter in India.

Despite the challenges of strengthening newborn screening programs in countries where the service is now virtually unknown, Ojodu and his team foresee tremendous benefits to public health as well as national income and stability. Says Ojodu: “When we reduce or eliminate the symptoms of newborn screening disorders, kids are healthier, healthcare costs go down and mothers can take on income-generating work. This raises family income and, when multiplied by millions of families, also raises national income. We get a cascade of benefits from a single investment in public health.”

 

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APHL’s newborn screening program goes global

APHL's Jelili Ojodu receives the the Gerard Loeber Award for Contributions to Newborn Screening Expansion in Developing Countries

Outside of the US and other resource-rich nations, few countries have the capital, infrastructure and human resources required to sustain a newborn screening program. Despite these barriers, APHL staff and members have worked diligently to increase access to newborn screening worldwide. In recognition of these efforts, APHL Newborn Screening and Genetics Director Jelili Ojodu received the Gerard Loeber Award for Contributions to Newborn Screening Expansion in Developing Countries at the tenth in September. The award recognizes years of work by Ojodu and his team at APHL to make newborn screening the norm—not the exception—for babies around the world.

While much remains to be done to achieve this goal, as more countries consider the impact of non-communicable diseases on their populations, interest in newborn screening is growing. In the last year alone, APHL has received requests for technical assistance to develop or expand newborn screening programs from Brazil, Canada, Ghana, Jordan, India, Mexico, Nepal, Nigeria and Tanzania.

Such interest has led APHL to expand partnerships with nonprofits and governmental agencies to develop newborn screening guidance and resources. For example, APHL has collaborated with the Global Issues Working Group of the Sickle Cell Disease Coalition to develop a Global Resource Library with information on sickle cell disease activities worldwide and a public service announcement. In addition, the association worked with other sickle cell disease advocates to create tools to assess a nation’s needs and readiness to develop a sickle cell disease program. APHL is also currently collaborating with the US Centers for Disease Control and Prevention (CDC), the CDC Foundation, the Pediatric Endocrine Society and Vanderbilt University Medical Center to finalize a document detailing the capabilities required to launch a newborn screening program.

On the ground, APHL continues to extend its reach within Africa, South America, Europe and Southeast Asia. It supports development of implementation plans and strategies, offers related training and shares recent developments in US newborn screening. For example, APHL recently participated in the first Pan-African Workshop on Newborn Screening in Rabat, Morocco, where delegates reported on the status of newborn screening in their countries, and APHL discussed developing a newborn screening case registry to coordinate patient follow up, and infrastructure required for electronic data exchange of newborn screening results.

The association has also been collaborating with partners in India as that country gears up to implement universal newborn screening—a daunting undertaking in a country where 1.5 million babies are born each month. APHL recently teamed up with PerkinElmer to support newborn screening and genetics training for a fellow from Jaipur, whom APHL staff later visited to assess readiness for newborn screening new disorder implementation and technical assistance in that state. Currently, APHL is developing case studies about the benefits of newborn screening to educate physicians in Jaipur, and, with the International Neonatology Association (ISNS), is coordinating with local NBS leaders to explore opportunities to initiate an ISNS chapter in India.

Despite the challenges of strengthening newborn screening programs in countries where the service is now virtually unknown, Ojodu and his team foresee tremendous benefits to public health as well as national income and stability. Says Ojodu: “When we reduce or eliminate the symptoms of newborn screening disorders, kids are healthier, healthcare costs go down and mothers can take on income-generating work. This raises family income and, when multiplied by millions of families, also raises national income. We get a cascade of benefits from a single investment in public health.”

 

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New book contract

Well CRC Press haven’t learned their lesson yet, and have given me, Frank Zachos (Vienna) and Igor Pavlinov (Moscow) a contract for an edited book…

Congratulations to 2019 APHL newborn screening award winners

Congratulations to 2019 APHL newborn screening award winners | www.APHLblog.org

At the 2019 Newborn Screening and Genetic Testing Symposium in early April, APHL presented awards to leaders in the field of newborn screening. We commend the exceptional and innovative work of all those who were nominated.

The following awards were given:

George Cunningham Visionary Award in Newborn Screening – This year’s recipient was Ming Chan, PhD, retired director of the Florida Bureau of Public Health Laboratories (BPHL).

Dr. Chan has been influencing newborn screening and laboratory science in the state of Florida since 1972. In that time, under various capacities at the Florida BPHL, Dr. Chan has implemented and overseen numerous advances in environmental chemistry, clinical chemistry, newborn screening and genetic testing, and bacteriology, serology, and virology. Some of his accomplishments include:

  • adopting automation and a Laboratory Information Management System (LIMS) for the chemistry section that tracked specimen testing and interfaced analytical equipment for the electronic transfer of results;
  • development and implementation of newborn screening test procedures for the state’s Infant Screening Program in 1979; and
  • early adoption of SCID testing after its addition to the recommended uniform screening panel.

In 2008, he retired as the director of Florida’s BPHL but returned to newborn screening as a consultant to continue ensuring healthy outcomes for infants through early disease detection.

Harry Hannon Laboratory Improvement Award in Newborn Screening – This year’s recipient was Victor Skrinska, PhD, DABCC. Dr. Skrinska is the Head of Section for the metabolic laboratory and the National Newborn Screening Laboratory in Doha, Qatar since 2009.

Dr. Skrinska’s research and method development of homocystinuria screening by way of measuring total homocysteine in dried blood spots using LC-MS/MS increased the accuracy of screening, resulting in timely identification and reporting of cases. He has also spearheaded the expansion of conditions screened in Qatar to include alpha and beta thalassemias, as well as expansion to other newborn screening conditions through the use of second tier screening methods. He has championed quality improvement in the laboratory and has been able to make these achievements independent of any political crises and embargos on his country.

Judi Tuerck Follow Up and Education Award – APHL honored the efforts of two individuals this year: Barbara Ferreira, BSN, Area Service Center Director at Harbor-UCLA in California and Amy Gaviglio, MS, CGC, short-term follow-up supervisor for the Minnesota newborn screening program.

Ms. Ferreira has overseen the screening of more than 20 million babies during her 40 year tenure with the state of California. She has improved and influenced the quality of newborn screening follow-up both nationally and within her state. Her experience has advanced the quality of newborn screening at the national level through her active participation on the Education and Training workgroup of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) and the document development committee of the Clinical Laboratory Standards Institute (CLSI). Through participation in APHL’s Collaborative Improvement and Innovation Network and NewSTEPs 360 projects, she implemented measures to improve the timeliness of newborn screening in California.

Amy Gaviglio has been working in newborn screening follow-up in Minnesota for the past 12 years and has been the short-term follow-up supervisor for 10 of those years. She has been intimately involved in Minnesota’s implementation of new disorders, both for screening and for improving the communication of newborn screening results. Ms. Gaviglio has also been a leader in facilitating the initiation and maintenance of screening efforts for critical congenital heart disease in MN, and used this experience to facilitate screening in other states seeking to do the same. She has been instrumental in promoting training for implementation of DNA-based techniques in screening and her expertise has been widely acknowledged through her professional activities at the national level, which include her Vice Chair position for the CLSI Expert Panel on Newborn Screening, membership on the American College of Medical Genetics and Genomics ACT sheet workgroup, and membership on ACHDNC’s Education and Training workgroup, as well as numerous APHL committees and workgroups.

Everyday Life Saver Award – For the inaugural presentation of this award, APHL recognized the work and accomplishments of Krystal Baumert, follow-up coordinator for the Nebraska newborn screening program. Ms. Baumert has been working in newborn screening follow-up for over 25 years. Ms. Baumert was involved in the development of one of the first electronic match systems in the country to be able to accurately account for every newborn’s results, and she continues to work with PerkinElmer (Nebraska’s contracted newborn screening laboratory) to develop clear, effective daily reports for monitoring, tracking and follow-up so that none of the babies in Nebraska are lost to follow-up.

Congratulations to all award winners.

This program was supported by Cooperative Agreement # 5NU60OE000103 from the Centers for Disease Control and Prevention. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of CDC or the Department of Health and Human Services.

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