NASHVILLE, Tenn. – Nov. 16, 2022 – The use of preimplantation genetic testing as a part of in vitro fertilization (IVF) has skyrocketed, and is likely linked to the increased use of carrier screening and other forms of genetic testing, suggests a study being presented at the National Society of Genetic Counselors (NSGC) 41st Annual Conference.
The study authors documented a dramatic jump in the number of patients undergoing IVF who had their embryos tested for genetic conditions such as cystic fibrosis or an increased susceptibility to cancer at a New York City fertility clinic. Prospective parents concerned about a genetic variant that may adversely affect their child’s health can use IVF along with this form of testing – called PGT-M – to avoid the risk.
The study’s authors found that the use of PGT-M jumped by more than 644% over a 17-year period at the clinic. The use of preimplantation genetic testing increased from 1% in 2004 to 7.44% of all IVF cycles in 2021 at this busy clinic.
Typically, PGT-M is done when one or both prospective parents are aware of a specific genetic variant they want to avoid passing along to their children. In the past, this risk was often discovered only after the birth of a sick child. However, this study suggests that recent growth in preimplantation genetic testing is related to the increased use of carrier screening among prospective parents to uncover hidden risks, as well as the increased use of genetic tests for single-gene variants that can make an individual more susceptible to common diseases such as cancer and heart disease.
“No prior study has documented the rapid growth of preimplantation genetic testing for these single-gene disorders, or has provided evidence of a link between the rise of genetic screening and the use of pre-implantation testing to select embryos,” said Hallie Metzger, MS, lead author of the study and a genetic counselor with UBMD Pediatrics/Kaleida Health at Maternal Fetal Medicine within Oishei Children’s Hospital, Buffalo, New York. “Our results suggest prospective parents with access to IVF are making use of our increased understanding of genetics to reduce the risk of genetic disease and susceptibility in the next generation – which may reshape the demographics of genetic conditions.”
The American College of Obstetrics and Gynecology and the American College of Medical Genetics recommend every couple be provided information about carrier screening prior to pregnancy.
“The testing can be done along with preimplantation genetic testing of embryos for chromosomal differences that typically are not inherited, which increases the chances of a viable and healthy pregnancy and child,” Metzger said. “Genetic counselors can help identify prospective parents who may be helped by PGT-M, and guide them through the process. Genetic counselors also can help advocate for greater access to PGT-M for those who are in need and lack access.”
Note to editors: Media interested in viewing study abstracts, interviewing authors and/or attending sessions at the NSGC Annual Conference can contact NSGC’s PR team at 630-344-2009 or NSGCPR@pcipr.com.
About the National Society of Genetic Counselors
NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents 5,000 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.
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