By Renee N. Wright, MS, LCGC
Team Lead, Genetic Counselors, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment
The Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment (CFDT) has one of the largest genetic counseling teams dedicated exclusively to fetal care. Our six full-time genetic counselors partner closely with maternal-fetal medicine specialists to review each case and determine the most appropriate genetic testing strategy. Every new patient meets with a genetic counselor during their first-day evaluation, where medical, pregnancy and family history are reviewed; the reason for referral is discussed; and the most comprehensive genetic testing available is offered.
In recent years, prenatal genetic testing has shifted from a stepwise model to a comprehensive-first approach using whole exome sequencing (WES) or whole genome sequencing (WGS). This evolution has been driven by expanded availability through commercial laboratories, reduced costs and greater financial assistance for families, and faster turnaround times. As a result, our genetic counselors can now offer more comprehensive testing than ever before, contributing to a notable increase in genetic diagnoses. Over the past three years, we have ordered more than 420 WGS tests, achieving a diagnostic rate of 35%.
As we expand comprehensive testing to a larger and more diverse patient population, we remain mindful of barriers that may limit access. Our team collaborates closely with psychosocial and administrative colleagues to ensure all patients can obtain genetic testing and receive support when needed.
With more comprehensive testing comes added complexity and nuance, making it critical to have a team skilled in interpreting and disclosing prenatal results. Our genetic counselors invest time reviewing the literature, consulting with laboratory partners, and engaging with clinical experts to ensure patients receive clear, accurate and up-to-date information. Because the CFDT is located within CHOP, our genetic counselors maintain active connections with specialty genetics programs, including the 22q and You Center, the Trisomy 21 Program, the Cystic Fibrosis Center, and the STRIVE for Kids Program for children with differences in sex development. These partnerships allow us to connect families with relevant experts prior to delivery and provide deeper insight into specific diagnoses.
Looking ahead, we are committed to pursuing new approaches and testing strategies that ensure every patient not only has access to comprehensive prenatal genetic testing but also receives meaningful results in a timely manner. Our goal is to ensure families feel supported, informed and confident as they make decisions for their pregnancies and their future.
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By Renee N. Wright, MS, LCGC
Team Lead, Genetic Counselors, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment
The Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment (CFDT) has one of the largest genetic counseling teams dedicated exclusively to fetal care. Our six full-time genetic counselors partner closely with maternal-fetal medicine specialists to review each case and determine the most appropriate genetic testing strategy. Every new patient meets with a genetic counselor during their first-day evaluation, where medical, pregnancy and family history are reviewed; the reason for referral is discussed; and the most comprehensive genetic testing available is offered.
In recent years, prenatal genetic testing has shifted from a stepwise model to a comprehensive-first approach using whole exome sequencing (WES) or whole genome sequencing (WGS). This evolution has been driven by expanded availability through commercial laboratories, reduced costs and greater financial assistance for families, and faster turnaround times. As a result, our genetic counselors can now offer more comprehensive testing than ever before, contributing to a notable increase in genetic diagnoses. Over the past three years, we have ordered more than 420 WGS tests, achieving a diagnostic rate of 35%.
As we expand comprehensive testing to a larger and more diverse patient population, we remain mindful of barriers that may limit access. Our team collaborates closely with psychosocial and administrative colleagues to ensure all patients can obtain genetic testing and receive support when needed.
With more comprehensive testing comes added complexity and nuance, making it critical to have a team skilled in interpreting and disclosing prenatal results. Our genetic counselors invest time reviewing the literature, consulting with laboratory partners, and engaging with clinical experts to ensure patients receive clear, accurate and up-to-date information. Because the CFDT is located within CHOP, our genetic counselors maintain active connections with specialty genetics programs, including the 22q and You Center, the Trisomy 21 Program, the Cystic Fibrosis Center, and the STRIVE for Kids Program for children with differences in sex development. These partnerships allow us to connect families with relevant experts prior to delivery and provide deeper insight into specific diagnoses.
Looking ahead, we are committed to pursuing new approaches and testing strategies that ensure every patient not only has access to comprehensive prenatal genetic testing but also receives meaningful results in a timely manner. Our goal is to ensure families feel supported, informed and confident as they make decisions for their pregnancies and their future.
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Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment