SALT LAKE CITY – Nov. 7, 2019 – A researcher seeking to demonstrate the value of genetic counseling for families of children with genetic epilepsy has been granted this year’s Jane Engelberg Memorial Fellowship (JEMF), a highly prestigious award of the National Society of Genetic Counselors (NSGC).
Katherine Helbig, MS, LCGC, was awarded this year’s prize to investigate whether genetic testing and genetic counseling improve the health of children with epilepsy and lead to better use of healthcare resources. Epilepsy has a strong genetic component, with up to 40% of children with difficult to treat epilepsies resulting from genetic mutations. Working with a multidisciplinary team, Helbig will analyze large data resources of thousands of children with epilepsy to assess whether the involvement of a genetic counselor and identifying a genetic diagnosis lead to overall better care, particularly in children from racial or ethnic minorities or low socioeconomic status, who often face persistent healthcare disparities.
“Genetic counselors are experts in communicating complex information to the family regarding the causes and risks of epilepsy, as well as serving as a liaison and contact to coordinate necessary medical care and services,” said Helbig, senior genetic counselor and co-director of the Epilepsy NeuroGenetics Initiative at Children’s Hospital of Philadelphia. “This study will be the first to investigate whether health outcomes and use of the healthcare system in children with epilepsy are improved by establishing a genetic diagnosis and providing genetic counseling. I am honored to receive the fellowship, which will allow me to establish new collaborations with experts in the field of outcomes research and provide valuable support for the complex data analysis we are undertaking.”
Helbig said her research will set out to determine if children with epilepsy have fewer unplanned hospital admissions, fewer emergency room visits, better medication adherence and a reduction in other adverse events after they receive a genetic diagnosis and see a genetic counselor.
“This is important work that aims to demonstrate the value of genetic counseling in this vulnerable population, which hopefully will lead to better access,” said Amy Sturm, MS, CGC, president of the National Society of Genetic Counselors. “Better healthcare may help lower the risk of death by increasing awareness among the family and medical care team of the importance of increasing surveillance and care coordination.”
The annual JEMF was established in 1991 to fund initiatives such as research, writing or exploration of new interests by board-certified genetic counselors who are members of the NSGC or are genetic counseling students enrolled in Accreditation Council for Genetic Counseling training programs. Each year the award of $70,000 is provided for a two-year project. It is a tribute to Jane Engelberg, who graduated from Sarah Lawrence College in 1973 with a master’s degree in human genetics. During her 15-year career as a genetic counselor in New York City, Jane developed expertise in counseling patients on issues related to hemophilia and prenatal diagnosis. She worked tirelessly until her death in 1988, despite being under treatment for advanced Hodgkin’s disease beginning in 1969.
The 2018 JEMF awardee, Heather Zierhut, Ph.D., MS, CGC, will be presenting her completed work at the NSGC Annual Conference. She led a study to improve the detection of familial hypercholesterolemia (FH) through a genetic counseling intervention to promote increased awareness and identification of at-risk family members.
The fellowship is funded by the Engelberg Foundation, founded by Jane’s husband, Alfred B. Engelberg. On the 25th anniversary of the fellowship, the Engelberg Foundation gave the NSGC an award of $1.5 million to permanently endow the award and ensure the ongoing support of genetic counseling research.
About the National Society of Genetic Counselors
NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents more than 4,000 masters-level health professionals, who are committed to ensuring that the public has access to genetic counseling and genetic testing. For more information, visit www.nsgc.org.