Can Genetic Screening Help Choose the Healthiest Embryo?

Several companies now offer a new type of genetic screening to determine which embryos created with in vitro fertilization have a higher risk of developing common diseases such as diabetes or heart disease. The same technology is being marketed, and sometimes used, to select those more likely to be taller, creative and finish college.

But while the new genetic tests appeal to intended parents eager to give their babies the best possible start in life, a report published July 1 in The New England Journal of Medicine raises questions about the significance and usefulness of such screenings, as well as the ethics involved.

New Companies Claim to Predict Risk of Common Diseases

Typically genetic screening of embryos before implantation is an option available to intended parents to identify potential disorders caused by a single gene, such as Huntington’s disease, or by an entire chromosome, such as Down syndrome.

Now several companies, including Orchid and MyOme, are offering an additional type of genetic test called a PRS, or polygenic risk score, to predict the lifetime risk that an embryo will develop a host of other common diseases, such as heart disease, cancer, diabetes or schizophrenia.

Rather than screening for a discrete gene or chromosome, these new genetic tests rely on tiny snippets of genes that may, combined with other factors, indicate a higher likelihood that an embryo will be born with certain traits or disorders.

As genetic counselor Kyle W. Davis wrote recently for Slate, rather than comparing entire genes, PRS models “compare common genetic changes called single-nucleotide polymorphisms—SNPs for short, pronounced ‘snips.’ These SNPs are single-letter differences in the DNA, whereas a gene is between several hundred to more than 2 million letters long. A gene codes for a protein, but SNPs may slightly alter how a gene is translated into a protein, or how the resulting protein functions. When studied in large groups, SNPs show small but significant correlations that suggest they influence inherited conditions. Using advanced statistics, researchers create a model using anywhere from dozens to millions of SNPs that influence the risk of a condition, adding them together for a composite score—the PRS.”

PRS Tests May Be Less Useful in Embryo Selection

Companies such as 23andMe, which markets direct-to-consumer genetic tests that provide risk information for conditions including Parkinson’s, Alzheimer’s and celiac disease, have been using PRS models for years. Consumers can use the information to manage their own health, perhaps scheduling more frequent colonoscopies or heart checkups in response to a report of heightened risk.

But the authors of the NEJM report warn that beyond identification of potential disease risk, some companies are advertising screening for other conditions and traits, such as cognitive ability, education and income. As recently as December 2020, according to the report, Genomic Prediction, one of the first companies to offer genetic risk assessment for embryos, advertised that it could screen for intellectual disability, although the claim does not appear on the company website now.

Even as the new models become increasingly popular with consumers, the “hype” surrounding them may overstate their accuracy or their value to the individual patient, as Davis writes in Slate.

“In 2018, researchers created a model using more than 6 million SNPs to stratify risk for coronary artery disease. Although this was an achievement, a follow-up study adding this PRS model to conventional risks (such as age) found that the model failed to predict heart disease any better than conventional risks did alone…. Researchers expect to discover more SNPs that influence coronary artery disease in the future, which they can use to improve PRS models. But insufficient knowledge is a problem for essentially all current PRS models.” [our emphasis]

Many IVF and genetics experts are questioning the usefulness of PRS modeling for selecting embryos for similar reasons.

To begin with, PRS prediction models were developed by examining the genes of thousands or millions of individuals, mostly unrelated by blood. But a group of embryos created by the same parents will be genetically very similar and will not exhibit the same degree of genetic variance as the populations on which the models are based. Therefore any variations that make it more likely one embryo will have a condition than another will be miniscule, possibly so tiny it won’t make much, if any, difference in the outcome.

Additionally, the PRS models were developed primarily from European populations, rendering the predictions much less accurate for intended parents who are of a different ethnic heritage.

According to a 2019 report published in Nature, of 733 studies used to build PRS models between 2008 and 2017, 67 percent were limited to people of European ancestry, while just 3.8 percent included people of African, Latino/Hispanic, or Indigenous ancestries. Not surprisingly, when PRS models were applied to people of African ethnicity, the predictive ability was roughly 68 percent worse than when applied to people of European descent.

Embryo Traits Determined by Multiple Genes, Other Factors

There is also the age-old question of nature versus nurture: The long list of conditions and attributes companies claim to screen for may be impacted or changed by interaction with other genes or by the environment in which the child is raised. And in the still-evolving field of genetic screening, there is plenty that scientists still don’t fully understand. For example, genetic traits that appear to predict creativity can indicate an increased risk for schizophrenia. In another study, researchers selecting for educational attainment also found increased risk for bipolar disorder, according to the healthcare news journal Stat.

Genetic testing also raises ethical issues. Even as expanded insurance coverage and employer health benefits gradually make fertility treatment such as IVF more accessible for more people, the high costs of in-depth genetic screening may mean it is less available to poor or low-income people. “This is an intervention that is never going to be available to everyone,” Leila Jamal, bioethicist and associate director for cancer genomics at the Johns Hopkins Bloomberg School of Public Health Genetic Counseling Training Program, told Slate.

Likewise, if wealthy people are able to screen for progeny free of disease (or taller, stronger or more handsome), how will that magnify the inequities in health care and wealth that already exist in our society? The practice of selecting embryos to avoid certain traits, such as intellectual disability sends a message to the greater society, medical ethicist Gabriel Lázaro-Muñoz told Slate. “We have these companies telling us, in a way, these embryos are lives that are more worth living.”

Equal access aside, the PRS models will be most accurate and most useful for the population on which they were modeled. Intended parents of color who opt for the additional screening should be aware that the results will have less relevance and yield less reliable information until PRS models more specific to them are available.

Consumer Education Essential to Weigh Benefits of PRS Tests for Embryos

Genetic PRS testing and new developing gene therapies will transform health care and may someday eliminate many diseases entirely. But it is still an emerging science.

The authors of the NEJM report express concern not only about the use of PRS testing to predict disease in embryos, but, in the largely unregulated field, about its use in screening for other physical and personality traits. As Hannah Wand, director of preventive genetics at Stanford University, told Slate, “We have a tendency in genetics to put out tests when they’re technically feasible. We have not yet figured out how genetics integrates with routine life and public health.”

The NEJM report authors point out companies’ responsibility to communicate clearly what the results mean and don’t mean and how accurate and appropriate they are for each individual. Intended parents who choose the additional testing should be fully informed about what the results do and do not indicate.

The report also urges increased government oversight as companies unveil new tests. The U.S. Federal Trade Commission prohibits companies from misleading consumers and should develop protocols for investigating companies claims and the scientific evidence behind them.

For intended parents who have sacrificed emotionally, physically and financially to create a family using in vitro fertilization, the ability to select the embryo least likely to become ill in adulthood and most likely to succeed in life is certain to be a hot ticket. As the science evolves and more companies enter this lucrative market, it will be important for intended parents and their health care providers to be educated and realistic about both its benefits and its limitations.

Considering using assisted reproduction for family building? Contact our experienced team of fertility attorneys and paralegals to find out how to ensure your family is legally protected.



Richard Vaughn

Attorney Rich Vaughn is founder and principal of International Fertility Law Group, one of the world’s largest and best-known law firms focused exclusively on assisted reproductive technology, or ART, including in vitro fertilization (IVF), surrogacy, sperm donation or egg donation. Rich is co-author of the book “Developing A Successful Assisted Reproduction Technology Law Practice,” American Bar Association Publishing, 2017.

Peiya Wang
Paralegal (律师助理)

Peiya Wang joined IFLG as a paralegal in 2015, where she manages surrogacy, egg donation and parental establishment cases and provides translation services for many of IFLG’s international clients. Peiya moved to the United States in 2012 to attend Northeastern University in Boston, Massachusetts, receiving a Master of Science degree in Global Studies and International Affairs in 2014. Peiya moved to Los Angeles in 2015, received her paralegal certification from UCLA Extension, and obtained her second Master of Science degree in Legal Studies from Loyola Law School. Peiya relocated back to her hometown, Beijing, China in 2019 and works from IFLG’s Beijing office. When away from the office, Peiya is a dragon boat paddler and a ballroom dancer, where she favors Rumbas and Cha-chas. She is fluent in Mandarin and English.

Luis Sosa

Luis R. Sosa joined IFLG as a paralegal in 2016, where he enjoys pursuing his passion for family and reproductive law. While working toward his bachelor’s degree at Florida International University which he received in 2013, Luis worked as a paralegal and legal assistant for family law litigation firms in Miami and Washington, D.C. As a paralegal and case manager for IFLG, Luis, who is bilingual in English and Spanish, manages surrogacy, egg donation and other reproductive law cases. Luis has worked for IFLG in both Los Angeles as well as San Francisco, and is currently based in Dallas, Texas. In addition to spending time with husband Randy and dog Marty, Luis enjoys being outdoors and appreciating the arts.

Toni Hughes

After receiving her B.S. in Business Management, Toni joined IFLG to pursue her dream of working in the legal field. As a Paralegal with over 10 years of experience in the assisted reproduction technology field, Toni is our Managing Paralegal, responsible for training and managing our paralegal staff. From drafting legal documents to assisting our clients with post-birth matters, Toni embraces the challenge of learning something new in this field each day. Besides spending time with her son, Jordan, Toni enjoys exploring new things, cooking, spending time with family and friends, and serving as a Youth Advisor for “Next Generation.”


Kim has over 30 years of experience in the legal field and has worked exclusively in surrogacy and assisted reproduction law since 1999. Kim is a senior case manager responsible for managing parental establishment cases and interacting with IFLG’s Of Counsel attorneys across the country. With three children of her own, Kim understands the importance of family and finds working in this area of law a rewarding experience.

Rich Vaughn

Attorney Rich Vaughn combined his personal passion as a father of twin boys born via assisted reproductive technology (ART) with more than 20 years of experience in business and technology law to build International Fertility Law Group. Today IFLG is one of the most successful and best-known law firms in the world focused exclusively on fertility law, helping thousands of intended parents through empathetic listening, compassionate guidance, and unmatched legal expertise. As an advocate for reproductive freedom, Rich also contributes his knowledge and time to improving the understanding and practice of ART law, most recently as a founder of and speaker at the first Cambridge University International Surrogacy Symposium held in June 2019, as immediate past chair of the American Bar Association ART Committee, and as a popular presenter to law schools, faculty and advocacy organizations all over the world.

Elizabeth Tamayo

Elizabeth received her Bachelors of Science degree in Criminal Justice from California State University of Los Angeles. Shortly after graduating, she continued her education at the University of California, Los Angeles where she obtained her Paralegal certificate. Elizabeth is fluent in Spanish and has been in the legal field since 2009. She is excited to be a part of the IFLG Team helping families realize their dreams.

Sunny Chien

Sunny joined IFLG as a paralegal in 2017, where she manages surrogacy, egg donation and parental establishment cases for many of IFLG’s international clients. She holds a Bachelor of Arts degree in Philosophy from California State University of Los Angeles, where she graduated cum laude. Sunny is bilingual in English and Mandarin and has extensive experience as a legal assistant and paralegal at Los Angeles-area law firms. She is excited to be part of the IFLG team. In her spare time, Sunny enjoys spending time with her family and their dog, going to the beach, cooking, and being outdoors.

Los Angeles

5757 Wilshire Blvd., Suite 645

Los Angeles, CA 90036

Phone:  +1 323 331 9343

Email:  info@iflg.net

Website:  www.iflg.net

New York

501 Fifth Avenue, Suite 1900

New York, NY 10017

Phone:  +1 844 400 2016

Email:  info@iflg.net

Website:  www.iflg.net

Molly O'Brien

Fertility law attorney Molly O’Brien began working in the field of assisted reproduction technology (ART) in 2005, at an egg donation agency and a surrogacy agency where she became familiar with all aspects of in-vitro fertilization, egg donation and the financial aspects of surrogacy. Since becoming an attorney in 2011, Molly has drafted and negotiated surrogacy, egg donation, sperm donation embryo donation agreements for hundreds of her clients all over the world.

Phoebe Sadler

Fertility law attorney Phoebe Sadler has a background in family law and has been practicing exclusively in the area of assisted reproduction technology (ART) law since 2018.

Rubina Aslanyan

Rubina has an extensive background in the legal field as a paralegal in Family Law and has worked in surrogacy and assisted reproduction law since 2012. Her area of focus is in managing and assisting clients with surrogacy, egg donation, and parental establishment cases for many of IFLG’s domestic and international clients. During her spare time, Rubina enjoys spending time with her family and dog Bella, traveling and cooking.

Alexander Espinoza
Legal Assistant

Alexander joined IFLG as a legal assistant in 2019, where he manages surrogacy, egg donation and parental establishment cases. Alex is bilingual in English and Spanish and has been in the legal field for 23 years. Alex is excited to join the IFLG team and pursuing his will to help others in the reproductive law process. In his spare time he loves spending time with his family and friends, being outdoors, road trips, loves music and dancing.

Cara Stecker
Senior Paralegal

After receiving her paralegal certificate in 2005, Cara began working in assisted reproductive law. During the fifteen years Cara has worked in this field, she has gained a wide range of experience and knowledge that she uses to help better assist clients and those involved in the assisted reproductive journey. Cara’s primary roles involve managing parental establishment matters and coordination with IFLG’s Of Counsel attorney network, drafting contracts and parental establishment court documents and providing support to other team members. Cara finds great joy in being a small part of a team of caring people who help others achieve their dream of having a family. In her spare time, Cara enjoys spending time with her husband and three children, watching her children play the sports they love, and she enjoys, running, cycling and exploring the outdoors in the sun.

Stephanie Kimble

Stephanie received her BS in History and Political Thought from Concordia University Irvine in 2015 and her Paralegal Certificate from University of San Diego later that same year. She has been working as a Paralegal since 2016 in Family and Reproductive Law. She is excited to be part of International Fertility Law Group working on managing Surrogacy, Egg donation and Parental Establishment Cases.

Trish Pittman
Assistant Financial Coordinator

With more than 20 years of experience in the field of accounting, Trish joined the IFLG team in 2019 as Assistant Financial Coordinator. Her client-facing focus at IFLG is to assist with all client trust accounting. Trish is the mother of two daughters and enjoys spending time teaching and learning new things from them. In her free time, she loves long walks in the park and reading suspense and mystery novels.

Katie Deaquino
Senior Paralegal

Katie is a Senior Paralegal with IFLG and has dedicated over sixteen years to the areas of surrogacy and reproductive law. She received her Paralegal Certificate from Coastline Community College and has worked with some of the top law firms in the assisted reproduction community. Katie is also a commissioned Notary Public. With IFLG, Katie manages Surrogacy, Egg Donation, and Parental Establishment cases and provides support to other IFLG team members. Katie truly enjoys helping others build their families through assisted reproduction and is thankful she has had the rewarding experience of assisting IFLG clients. Katie often spends her free time with her Husband, four young children and her bulldog “Bella”.

Elsa Jimenez
Legal Assistant

Elsa joined IFLG as a Legal Assistant in 2019, bringing more than 35 years of experience working in the legal profession (concentrating in tort and litigation matters). At IFLG she assists surrogates with their surrogacy and parental matters. The oldest of five siblings, born and raised in East Los Angeles to Mexican immigrant parents, Elsa loves “seeing the beauty of families forming” through assisted reproductive technology. She and her husband Carlos have four children and one grandson. Elsa enjoys jazz and ’80s music, being outdoors in nature, collecting teacups and tea pots, and spending time with her close-knit family.