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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Have questions about newborn screening and genetics? Now is your chance to ask!

Have questions about newborn screening and genetics? Now is your chance to ask! | www.APHLblog.org

Next Monday, APHL will kick off the 2016 Newborn Screening and Genetic Testing Symposium in St. Louis, Missouri! Held every 18 months, this conference brings together newborn screening lab scientists, pediatricians, genetic counselors, follow-up coordinators and other professionals working on population genetics. Together, they will address state, national and international newborn screening and genetic testing issues that are important to public health.

Whether you are attending the symposium or not, you can follow the conversation on Twitter using #NBSGTS.

We are extremely excited to have NPR science correspondent, Joe Palca, join our keynote panel! Dr. Palca will present as one of the panelists during this session entitled, “Expanding the Newborn Screening Gateway: Considerations, Applications and Future Implications for Genomics and Precision Medicine.” He will also moderate the Q&A portion of this session.

This year we want to invite you to submit questions to be answered by Dr. Palca and our other highly regarded panelists.

Below is a list of the panelists and their presentation topics, as well as information on how to submit your questions. It is going to be a great discussion!

If you have a question about newborn screening and whole genome sequencing, genetics or genomics, please send them to us by Friday, February 26 at 5:00pm ET. Here’s how:

We might not be able to respond to every question, but we will try our best! If we can’t answer your question during the session, we will work to have an APHL newborn screening team member provide an answer after the symposium.

The keynote session is on Monday, February 29 from 1:30-3:30 PM CT (2:30-4:30 ET)! Be sure to follow #NBSGTS for live tweets from conference attendees!

Have questions about newborn screening and genetics? Now is your chance to ask! | www.APHLblog.org