Genetic testing’s role in future infertility treatments

Dr. Mili Thakur is a reproductive specialist based in Grand Rapids, Michigan, with expertise in obstetrics and gynecology, reproductive endocrinology, and medical genetics. As the founder of Genome Ally, a telehealth-based genetic consultation service, Dr. Mili Thakur addresses complex genetic issues in patients undergoing fertility treatments. Focusing on IVF with preimplantation genetic testing (PGT), Dr. Mili Thakur collaborates with patients and providers nationwide and gives insight into the evolving landscape of genetics in assisted reproductive technologies

LEVY Health

What affects the genetic factors involved in fertility? And how do these factors influence overall success rates of fertility treatments?

Dr. Mili Thakur

The most important factor for successful conception hinges on the genetic integrity of embryos. Whether via natural conception or assisted reproductive technologies such as IVF, ensuring euploidy — where all chromosomes are present in their normal numbers — is vital. Maternal and paternal age are pivotal factors influencing this process. With the trend of delayed childbearing due to career aspirations or other lifestyle factors, it’s crucial to acknowledge that while a woman may be chronologically young, her ovarian age significantly impacts egg quality, with genetic aberrations accumulating over time. Likewise, paternal age, typically identified around 40 to 45, is associated with heightened risks of genetic anomalies and epigenetic alterations in sperm.Furthermore, environmental exposures play a pivotal role. Given the 85 to 90-day cycle of gamete development, lifestyle adjustments are essential. This includes staying away from smoking, moderating alcohol consumption, avoiding any sort of drugs, and managing stress levels. Emotional and psychological well-being directly influence hormone regulation, thereby impacting chromosomal segregation and sperm quality.

LEVY Health

What are the different types of genetic testing available to people navigating fertility challenges? How do these tests contribute to shaping future reproductive plans?

Dr. Mili Thakur

Genetic testing is a game-changer in shaping the future plans of patients and couples. But it’s important to grasp that genetic testing isn’t just a one-size-fits-all deal. It’s an umbrella term covering various tests, each playing its own role.

Pre-implantation genetic testing is where we check embryos to ensure they carry the desired genetic information before IVF. This test aids in the selection of the most viable embryo for transfer. Carrier screening looks at whether parents may pass genetic diseases on to their offspring, which informs reproductive decision-making.

Additionally, genetic testing for pregnancy loss and male factor issues offers further insights into genetic abnormalities that may impact fertility and pregnancy outcomes.

LEVY Health

In your eyes, how can fertility clinics best integrate genetic testing into their practices? How do you envision genetics and fertility clinics collaborating to maximize patient outcomes?

Dr. Mili Thakur

When patients arrive at fertility clinics, their focus is understandably on conceiving, often overlooking sharing genetic risk factors. The optimal approach involves seamlessly incorporating genetic testing into the initial consultation process. By asking targeted questions about personal and family genetic history, reproductive endocrinologists can identify potential risks early on.

Comprehensive carrier screening should be offered to all patients to ensure thorough assessment of genetic risks. For older patients, pre-implantation genetic testing of embryos can optimize outcomes during IVF procedures. Additionally, addressing male factor infertility by testing for conditions like cystic fibrosis ensures a comprehensive treatment plan.

The way I see it, pre-test counseling is essential to prepare patients for the testing process and explain potential outcomes and implications. This ensures informed decision-making and prevents anxiety. Post-test counseling guides patients through next steps based on the results, thus preventing disengagement and optimizing patient outcomes.

I believe that by seamlessly integrating genetic testing into fertility clinic practices and providing comprehensive pre and post-test counseling, clinics can maximize outcomes and support patients throughout their fertility journey.

This also benefits patients financially by helping them avoid several miscarriages. 

LEVY Health

How can fertility clinics ensure patients are actively involved in decision-making regarding their genetic testing options?

Dr. Mili Thakur

I believe it’s very important for patients to be active partners in the decision-making process when it comes to their genetic testing. The word “genetic testing” often leads to confusion among patients, as they may not fully understand the extent of the tests being conducted. I’ve encountered numerous instances where patients assumed carrier testing assessed embryo health or that embryo testing encompassed all genetic conditions.

Simply providing written materials or consent forms isn’t sufficient. We need interactive educational tools to clarify these complex concepts. 

In an ideal scenario, each patient should have a dedicated appointment solely for discussing genetic testing. During this session, they can receive personalized education about their specific tests and the implications of certain results. This ensures patients are well-informed about their genetic testing journey and can actively participate in decision-making.

LEVY Health

What is essential for patients to know before undergoing genetic tests? 

Dr. Mili Thakur

I believe it’s important for patients to completely understand the tests they’re being offered. 

Patients need clear education on the different types of genetic tests. For instance, they should know the distinction between pre-implantation genetic testing (PGT) for aneuploidy and PGT for specific inherited conditions in the family. Patients should also understand the difference between medical-grade tests and direct-to-consumer tests like those from ancestry websites. While direct-to-consumer tests may provide some insights, they’re not as comprehensive as medical-grade tests.

Furthermore, patients should be aware that just because a genetic disorder doesn’t run in their family, they could still be at risk. Genetic testing can reveal carrier status for conditions that may not be evident in family history.

Lastly, patients should understand the limitations of genetic testing. Namely, its inability to detect all genetic variations or de novo conditions occurring at conception. Providing psychological support throughout the testing process is essential to empower patients and address any unexpected findings.

LEVY Health

Should genetic testing be recommended to all couples having trouble conceiving, irrespective of their decision to pursue IVF treatment?

Dr. Mili Thakur

Each patient should receive appropriate genetic testing tailored to their individual situation. 

Even for standard carrier screening panels, individualized considerations are key. For instance, patients from high-risk populations like the Ashkenazi Jewish community may require additional testing beyond the standard panel. Without such individualized approaches, important information might be overlooked, especially in high-volume systems.

My recommendation is to implement a triage system for all patients, regardless of their fertility treatment intentions. This should include follow-up with a genetics professional trained to identify relevant risk factors. Patients often provide critical information in passing, such as previous pregnancies or family medical history, which may be missed without proper attention.

In essence, generic algorithms or standardized approaches may inadvertently overlook important patient details. Therefore, we need to establish safeguards and personalized pathways to ensure that no crucial information is overlooked during the screening process.

LEVY Health

Considering the rapid advancements in genetic testing, what do you envision for the future of genetics in the next few years? 

Dr. Mili Thakur

I think genetic testing is swiftly transitioning into precision medicine, marking a transformative era in healthcare. We’re witnessing a shift towards individualized treatment plans tailored to each person’s genetic makeup. Just as pharmacogenomics has revolutionized medication administration, genetic testing is poised to revolutionize fertility treatments.

Right now, fertility treatments often follow a one-size-fits-all approach. But that’s changing. We’re starting to realize that unexplained infertility might have genetic roots. Precision medicine will help us dig into these genetic details and customize treatments accordingly.

I’m also a big believer in considering epigenetic changes. These are the tweaks in gene expression influenced by lifestyle and environment. By understanding epigenetics better, we can fine-tune treatment plans for better results.

But let’s not ignore the fact that we’re not fully equipped for this yet. We need better infrastructure and more education – both for patients and healthcare professionals. We need to ensure everyone understands the benefits of personalized medicine and clear up any misunderstandings about genetic testing.

So, my message to fellow clinicians and reproductive health practitioners is this: Let’s embrace the shift towards personalized medicine. Together, we need to build the tools and knowledge needed to make the most of genetics in healthcare and ensure every patient gets the tailored care they deserve.

LEVY Health

What can reproductive health professionals do to embrace this shift? Which areas do you believe require collective attention or collaboration?

Dr. Mili Thakur

All reproductive healthcare professionals need to recognize the growing significance of genetics in our practice. It’s not a separate entity but an integral part of every stage, from egg health to pregnancy. We need to shift our perspective from treating genetics as an add-on to recognizing it as inherent in our work.

Additionally, we need to prioritize emotional and mental support for our patients. It’s not just about the technicalities of treatment; it’s about empowering our patients to navigate the emotional journey with confidence.

Let’s acknowledge the evolving landscape and integrate genetics seamlessly into our processes so we can provide holistic care that addresses both the physical and emotional aspects of fertility treatment.