2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Inter-Center Variation in the Availability and Provision of Genetic Medicine Services in Level IV NICUs

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A survey conducted by the Children's Hospitals Neonatal Consortium (CHNC) reveals significant variation in the availability and provision of genetic medicine services in level IV Neonatal Intensive Care Units (NICUs) across North America. The survey found that 20-40% of unexplained admissions to level IV NICUs have a genetic diagnosis, highlighting the importance of genetic testing in neonatal critical care. However, the survey also identified a lack of pre- and post-test genetic counseling availability, with 40% of centers not providing pretest counseling for certain genetic tests. The involvement of genetics specialists in post-test counseling was more common, with 91% of centers always or almost always involving a geneticist or genetic counselor.<br /><br />The survey also revealed limited local expertise, with only 34% of centers having a dual board-certified physician or a neonatologist with significant expertise in clinical genetics, and only 9% having a medical geneticist focused on NICU consultation. This lack of expertise and variation in service and test availability may lead to limited access to genetic testing in timeframes relevant to critical care decision making.<br /><br />The study concludes that there is a need for improved availability of medical genetics professionals in level IV NICUs to improve the provision of genetic medicine services. It suggests that frequent ordering of genetic tests by neonatologists without pretest counseling indicates a potential benefit for formal training in basic genetic counseling skills for these providers. The study also mentions forthcoming guidelines from the American College of Medical Genetics and Genomics (ACMG), which may help improve the standardized provision of genetic medicine services.<br /><br />Overall, the survey highlights the need for better coordination and standardization of genetic medicine services in level IV NICUs to improve care and outcomes for infants in these units.

Asset Subtitle

Presenting Author - Bimal P. Chaudhari, MD MPH; Co-Author - Luca Brunelli, MD, PhD, FAAP; Co-Author - Katharine P. Callahan, MD; Co-Author - Nahed O. ElHassan, MD, MPH; Co-Author - Kristen P. Fishler, MS, CGC; Co-Author - Semsa Gogcu, MD, MPH; Co-Author - Karna Murthy, MD, MSc; Co-Author - Jennifer A. Rumpel, MD; Co-Author - Kristen Suhrie, MD; Co-Author - Jennifer A. Wambach, MD, MS; Co-Author - Monica H. Wojcik, MD, MPH, FAAP, FACMG;

Meta Tag

Counseling

Education

Exome sequencing

Genetic Testing

Genome sequencing

NextGen Sequencing

Co-Author Luca Brunelli, MD, PhD, FAAP

Co-Author Katharine P. Callahan, MD

Co-Author Nahed O. ElHassan, MD, MPH

Co-Author Kristen P. Fishler, MS, CGC

Co-Author Semsa Gogcu, MD, MPH

Co-Author Karna Murthy, MD, MSc

Co-Author Jennifer A. Rumpel, MD

Co-Author Kristen Suhrie, MD

Co-Author Jennifer A. Wambach, MD, MS

Co-Author Monica H. Wojcik, MD, MPH, FAAP, FACMG

Presenting Author Bimal P. Chaudhari, MD MPH

Keywords

Children's Hospitals Neonatal Consortium

genetic medicine services

level IV Neonatal Intensive Care Units

genetic testing

neonatal critical care

pretest counseling

post-test counseling

genetics specialists

local expertise

medical genetics professionals