Genetic tests increasingly complex to interpret

Providers navigate the challenge of guiding patients in decisions about transferring embryos with abnormal PGT results

This News Digest Story is paid featured content.

BY: INSIDE REPRODUCTIVE HEALTH


 
 
 

The rapid evolution of genetic testing in reproductive medicine is presenting significant challenges for fertility clinics, as the demand for more comprehensive and complex diagnostic tools grows. Clinicians and embryologists are grappling with intricate preimplantation genetic testing (PGT) results, including mosaicism and segmental aneuploidy, while patients seek clear, actionable information to make informed decisions.

PGT is becoming increasingly complex. Today, PGT platforms are able to test for embryo aneuploidy (PGT-A), monogenic genetic conditions (PGT-M) and for chromosomal rearrangements (PGT-SR) with unmatched detail. However, these advancements come with a steep learning curve for clinic teams.

“Genetic tests are becoming much more complex to interpret. PGT labs use varying proprietary technologies (next generation sequencing, SNP analysis and whole genome amplification), each with unique analysis techniques and cutoffs for identifying and reporting abnormalities. This variability can leave providers struggling to guide patients on options like transferring mosaic embryos,” noted Dr. Mili Thakur, reproductive endocrinologist and medical geneticist, and founder and CEO of Genome Ally.


Are Your Genetic Testing Results Putting Your Clinic at Risk?

Unlock the Latest Breakthroughs in Genetic Testing for IVF—And Boost Your Patient Success Rates!

You’re missing out on critical advances in reproductive genetics that could transform your clinic’s results and patient experience. In just 30 minutes, our expert consultation will reveal:

  • The truth about PGT-A mosaicism and how it impacts embryo transfer decisions

  • The best PGT platforms for your practice and how to interpret test results accurately

  • How to handle complex carrier screening results and improve your patient communication

  • Real-world strategies to improve your clinic’s workflow and reduce errors

Stop guessing and schedule a free session with Genome Ally. Start improving patient outcomes and transform your clinic!


Clinics Under Pressure, Heightened Legal Liabilities

The administrative and clinical burden of managing genetic testing is growing exponentially. A single patient case involving preimplantation genetic testing for monogenic disorders (PGT-M) can require up to five hours of preparatory work from clinical staff, often delaying the submission of critical cases to testing labs.

 
 

Compounding these challenges, carrier screening labs continue to broaden their gene panels. While this expansion offers more comprehensive insights, it frequently yields ambiguous results due to incomplete curation of genetic variants. “Carrier screening labs are expanding their gene panels without fully curating the variants, leading to unclear results in some cases about whether certain variants are autosomal dominant or recessive.,” Dr. Thakur pointed out.

This rising complexity increases the risk of misinterpretation, which can compromise patient care, delay treatments, and heighten legal liabilities. Traditional solutions, such as lab-provided genetic counseling, are increasingly seen as insufficient. “Since the genetic counselor is employed by the lab, they may lack insight into the patient’s clinical context or the practice’s specific approach.  This gap can leave families uncertain about their next steps.” Dr. Thakur highlighted.

Emerging Solutions for Genetic Challenges

Innovative approaches are beginning to address these pain points. A notable development is the introduction of on-demand telehealth genetics services.

Genome Ally provides fertility clinics with access to a triple-board certified physician in OBGYN, REI, and Medical Genetics.  The expertise of a physician comfortable with interpretation of genetic tests provides real-time support for clinics, integrating seamlessly into their workflows without requiring extensive onboarding.This allows clinics to efficiently manage complex cases, from ordering genetic tests to interpreting PGT results with mosaicism or segmental aneuploidy, while freeing up time for direct patient care. The licensed physician shares informed decision making with the patient and the fertility provider.

Looking Ahead: Preparing for the Future of Genetic Testing

“As genetic testing evolves to include even more sophisticated analyses, such as deletions, duplications, and whole genome sequencing, fertility providers will need robust systems to interpret and act on these findings,” Dr. Thakur commented. Genome Ally’s model of self-pay, physician-driven consultations supports streamlined workflows and reduced clinical bottlenecks. “Clinics must be prepared not only to manage increasing patient volumes but also to handle the nuanced counseling and decision-making these technologies require and we can help them do that,” says Dr. Thakur.


Are Your Genetic Testing Results Putting Your Clinic at Risk?

Unlock the Latest Breakthroughs in Genetic Testing for IVF—And Boost Your Patient Success Rates!

You’re missing out on critical advances in reproductive genetics that could transform your clinic’s results and patient experience. In just 30 minutes, our expert consultation will reveal:

  • The truth about PGT-A mosaicism and how it impacts embryo transfer decisions

  • The best PGT platforms for your practice and how to interpret test results accurately

  • How to handle complex carrier screening results and improve your patient communication

  • Real-world strategies to improve your clinic’s workflow and reduce errors

Stop guessing and schedule a free session with Genome Ally. Start improving patient outcomes and transform your clinic!

 

This News Digest Story is paid featured content. The advertiser has had editorial input and control over its creation. However, the views and opinions expressed in this article do not necessarily represent the views of Inside Reproductive Health. The sponsorship of this content does not imply an endorsement by Inside Reproductive Health.