57% of Genetic Risks Missed Without Genetic Counselor Input

Misinterpreted Genetic Tests Create Risk Exposure for Fertility Clinics

This News Digest Story is paid featured content.
BY INSIDE REPRODUCTIVE HEALTH

 

57% of Genetic Risks Missed Without Genetic Counselor Input

Fertility providers are under pressure to navigate a rapidly evolving landscape of genetic tests, often without dedicated support. A study of 299 prenatal patients at Christiana Care Health System found that 57.2% had missed genetic information during standard obstetric screening—information later identified when a genetic counselor reviewed family histories. Of those cases, 42.7% had findings significant enough to alter clinical care decisions.

Misinterpretation of genetic testing, gaps in care coordination, and inappropriate test selection can increase clinical and legal risk for providers. Fertility patients often make life-altering choices based on test results that may be misunderstood or lack context. For REIs and practice leadership, this risk grows with each expansion in test panels and decreasing face time with patients.

Whether due to missed information or misinterpreted results, gaps in genetic assessment can compromise care and increase liability for fertility providers.


Even the Best Clinical Teams Need Expert Support Interpreting Today’s Genetic Tests

Modern fertility care demands systems that keep pace with genetic complexity 

  • 57% of patients had missed genetic risks in routine screenings.

  • 42% of those had significant findings that changed clinical care.

  • Inconsistent counseling = legal exposure, care gaps, and lost trust.

  • Interpreting today’s genetic test results requires more support than most current models provide


700+ Genes, Polygenic Scores, and Growing Complexity

Carrier screening panels have expanded from a handful of conditions to over 700 genes, including several with implications even in the heterozygous state. PGT may include aneuploidy screening -with the added complexity of mosaic results -single gene disorders that may require family studies, and polygenic risk scores. Patients also increasingly arrive with direct-to-consumer genetic tests, which often require confirmation in a clinical-grade laboratory before they can be used to guide care. Moreover, negative results from DTC tests may provide false reassurance, as their limited resolution, narrower variant reporting, or non-clinical interpretation standards can lead patients to believe they have been fully screened – when in fact they haven’t. Each of these test types requires careful explanation to be actionable. As genetic testing innovation outpaces clinical training, the gap in interpretation is widening. Providers face constraints on time and bandwidth, especially in high-volume practices.

The consequences go beyond patient confusion. Clinical liability increases when test results are misunderstood, particularly when appropriate follow-up is missed or patients are not clearly informed of limitations. Cases involving embryo testing and PGT technology have raised legal questions around informed consent and the clinical interpretation of probabilistic lab classifications. This concern is echoed in Farmer et. al’s case series in Cancer Journal that documented 25 adverse genetic-testing events – including wrong tests ordered, misinterpretation of results by providers, and pathogenic variants mistakenly assumed to fully explain family cancer history. The report also noted cases where raw or DTC data were reinterpreted by genetic counselors, underscoring that seemingly benign or unilateral results can have hidden consequences.

In-House and Lab-Based Solutions Have Limitations

Access to genetic support services can be a challenge. Some clinics have attempted to fill the gap with in-house genetic counselors, but this model often struggles with scalability and workflow integration. Others rely on lab-sponsored counseling, which can raise concerns over impartiality, particularly if guidance can be interpreted as biased toward the lab's own offerings. Test ordering may also be limited to within the organization, or counseling is offered as an optional resource rather than embedded within a consistent and established clinical workflow.

These solutions rarely meet the demands for consistency, access and independence. For network practices with multi-site operations, the challenge is even more pronounced—requiring scalable solutions that standardize care, ensure appropriate test use, and document decision-making with patient audit trails for both clinical and legal protection. 

Integrated Support Helps Mitigate Risk and Improve Clarity
Third-party, independent genetic counseling services can be integrated directly into fertility clinic workflows – helping to reduce provider exposure, improve clarity around genetic test results and support informed patient decision making. 

Services like those offered by GeneScreen, with a nationwide team of board-certified genetic counselors licensed across all 50 states, are structured to deliver timely, accessible and impartial guidance across a range of test types and lab platforms. GeneScreen's proprietary platform enables real-time, provider-facing visibility, into patient progress, streamlined scheduling, documentation, and audit trails—offering scalability without disrupting clinical operations. Dr. Debbra Keegan, Group Medical Director for CCRM, shares: “GeneScreen provides world-class, accessible, genetic counseling that’s easy to interpret and exceptionally thorough. As an RE, I trust their guidance to help inform critical decisions about genetic risks, surveillance, and intervention.” 

When paired with the right technology, independent genetic counseling acts as an extension of the fertility practice – enhancing patient care, reducing provider exposure to legal risk and supporting operational safeguards.

Clinical Decision Support for an Expanding Risk Landscape
As test offerings proliferate and genetic risk assessments become more nuanced, fertility providers need aligned genetic services that clarify—not complicate—patient decisions. GeneScreen emphasizes that behind every result is a person facing high-stakes reproductive choices. When integrated early, independent genetic counseling adds a critical layer of risk mitigation and elevates the quality of patient care.


Even the Best Clinical Teams Need Expert Support Interpreting Today’s Genetic Tests

Modern fertility care demands systems that keep pace with genetic complexity 

  • 57% of patients had missed genetic risks in routine screenings.

  • 42% of those had significant findings that changed clinical care.

  • Inconsistent counseling = legal exposure, care gaps, and lost trust.

  • Interpreting today’s genetic test results requires more support than most current models provide

 

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.