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Next-generation DNA Sequencing More Effective In Identifying Genetic Disorders At Fertility Clinics

Current Genetic Screening Recommendations Overlook Multi-ethnic Influences

Capture78According to a study released at the American Society of Reproductive Medicine’s (ASRM) 2014 Annual Meeting in Honolulu Oct. 18 – 22, it is now recommended that fertility centers offer next-generation DNA sequencing (NGS) screening for genetic disorders to all patients, regardless of ethnicity. This represents a change from the current carrier-screening policy established by the American Congress of Obstetricians and Gynecologists (ACOG), and the American College of Medical Genetics and Genomics (ACMG), which have been recommending select tests for certain high-risk ethnicities and older-line genotyping studies at fertility clinics that test all ethnicities.

“In an effort to reduce the chance of genetic disorders in patients’ offspring, fertility centers have traditionally screened patients for diseases that affect select high-risk populations. For example, Caucasians are tested for cystic fibrosis, Jewish patients are screened for Tay-Sachs disease, and those of African descent are checked for sickle cell disease,” said Kaylen Silverberg, M.D., one of the study’s eight authors and the medical director at Texas Fertility Center in Austin and San Antonio. “As a result of globalization and our emerging multi-ethnic population, the older recommendations are simply no longer valid. Therefore, if we are serious about identifying and eradicating serious genetic disease, we need to broaden our prenatal screening protocols”.

“As an example, using advanced genetic testing we recently identified a man of Japanese descent as having sickle cell trait. Although he denied any family history of the disease, he was in fact a carrier and therefore could have passed this disorder on to his offspring,” Dr. Silverberg said. ”Had we simply followed current protocols, this gentleman’s sickle cell trait would have been overlooked.”

The Results

Dr. Silverberg and the study’s other authors — Jocelyn Davie, Good Start Genetics Inc.; Michael Alper and Selwyn Oskowitz, Boston IVF; Valerie Baker, Stanford Fertility and Reproductive Medicine Center; Angeline Beltsos, Fertility Centers of Illinois; Bradford Kolb, Huntington Reproductive Centers; and Andrew Toledo, Reproductive Biology Associates, screened a total of 4,894 patients. The patients represented a multitude of various multi-ethnic combinations. Nearly 200 disease-causing mutations were identified. Twelve percent (24/196) of these mutations would not have been detectable by traditional genotyping assays. Eighty-four of 196 pathogenic mutations (43 percent) were found in patients who did not self-identify as being members of any high-risk ethnicity, including 66 patients who did not provide an ethnic background. Moreover, 13 of these 84 (15 percent) mutations would not have been detected by traditional genotyping assays. This study underscores the benefits – not only of expanding the populations who are offered screening – but also of using the most advanced scientific methodology available, next generation DNA sequencing.


Dr. Silverberg recently was elected to the board of directors for the Society for Assisted Reproductive Technologies (SART). Dr. Silverberg, who also previously served on the SART board from 1998 to 2001, is a member of the scientific advisory board for Extend Fertility Inc. as well as several other biotechnology companies. In addition, he is a consultant for numerous pharmaceutical companies and medical device manufacturers. Dr. Silverberg has been honored by the American Fertility Association with their national Family Building Award, and he is recognized annually as a Best Doctor in America™ and by many other professional organizations.

Actively involved in infertility research, Dr. Silverberg has published his findings extensively in infertility journals. He is board-certified in obstetrics and gynecology as well as reproductive endocrinology. He is a clinical associate professor in the department of obstetrics and gynecology and the division of reproductive endocrinology/infertility at The University of Texas Southwestern Medical Center in Austin. Dr. Silverberg earned his bachelor’s degree in molecular biology and business administration from Vanderbilt University in Nashville, Tenn., and his medical degree from Baylor College of Medicine in Houston. He completed his obstetrics and gynecology residency at Vanderbilt University Medical Center in Nashville, and his reproductive endocrinology and infertility fellowship at The University of Texas Health Science Center at San Antonio.

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