Insight into the future of genetic testing

insights from industrySheetal ParmarVice-President of Medical Affairs and Head of Clinical ServicesNatera

In this interview, we speak to Sheetal Parmar, vice president of medical affairs and head of clinical services at Natera, about their cell-free DNA (cfDNA) testing services and the future of genetic testing with science. 

Please could you introduce yourself and tell us about your current role at Natera?

I’m Sheetal Parmar, a board-certified genetic counselor and vice president of medical affairs at Natera.

Natera is a global leader in cell-free DNA (cfDNA) testing. What are some of your aims and missions at Natera?

At Natera, we aim to make personalized genetic testing and diagnostics a part of standard care, and our mission is to change the management of disease worldwide. Our core cfDNA technology provides health information in the areas of reproductive health, oncology, and organ health.

Natera is revolutionizing the standard of care with next-generation, cell-free DNA testing

You analyze cfDNA to find insights about health and disease. What is cfDNA and what insights can you gain from analyzing it?

Cell-free DNA, or cfDNA, are small pieces of free-floating DNA found in the bloodstream. Everyone has cfDNA that originates from their own cells in their bloodstream. By analyzing the cfDNA from a blood draw, we can collect useful genetic information about a variety of conditions.

The first application of our cfDNA technology was in the reproductive health space. During pregnancy, there is cfDNA from both the pregnant individual and the placenta circulating in the bloodstream and we can analyze it to screen for chromosome conditions such as trisomy 21, trisomy 18, and trisomy 13.

We applied what we learned about analyzing cfDNA during pregnancy to oncology to detect molecular residual disease and monitor disease recurrence, and also use this technology in organ health, to assess for transplanted kidney, heart, and lung rejection.

Despite women’s health seeing more interest in recent years, there is still more that needs to be done. What do you currently believe to be some of the biggest challenges faced by women’s health and why should life sciences companies be placing a greater emphasis on it?

I agree that there is so much more we can do to address challenges in women’s healthcare. For example, despite all our scientific advances, there exist pregnancy complications such as preterm birth and preeclampsia that are associated with morbidity and mortality.  Preterm birth affects about 10% of pregnancies and is associated with significant neonatal morbidity and mortality.

Preeclampsia, a condition where a pregnant person develops high blood pressure with protein in the urine and other problems affects approximately 3-8% of pregnancies. 10-16% of maternal deaths in economically advanced societies are due to preeclampsia. Many researchers and companies are focusing on health issues like these because they are significant and methods to identify pregnancies at risk are limited.

Natera has developed a variety of tests within the field of women’s health. Can you describe some of the tests that are available for women and what they test for?

Natera has a number of genetic tests that provide important health information from preconception through pregnancy. This includes Spectrum preimplantation genetic testing of embryos during the IVF process; Horizon carrier screening for individuals and couples to determine their risk for passing a genetic condition to their child; Panorama NIPT which screens for chromosome conditions in the pregnancy, Vistara NIPT which screens for single-gene conditions in the pregnancy, and Anora which is a test on miscarriage tissue to identify the cause of a pregnancy loss.

Additionally, we have a genetic test called Empower for those who want to know more about their risk for developing cancer, understand why it might be more common in their family, or want to inform treatment options following a cancer diagnosis. Empower screens for genes associated with an increased risk for common hereditary cancers and our multi-cancer panels include commonly screened-for genes associated with 12+ types of cancer.

Pregnant Woman

Image Credit: 10 FACE/Shutterstock.com

You have also applied your technology to noninvasive prenatal testing (NIPT). Can you tell us more about NIPT and why it is beneficial not only to the mothers but to research also?

For a pregnant person, knowing their baby’s risk for certain genetic conditions allows them to prepare. NIPT is a screening test and not a diagnostic test. This means it can tell you what the chances are for certain genetic conditions in the pregnancy. While this test is not diagnostic, having a low-risk result for the conditions screened can provide some reassurance.

For a high-risk result, a confirmatory diagnostic test is recommended and this can be done during the pregnancy or after delivery. Knowing that a pregnancy has a genetic condition can inform what type of hospital a person should deliver at, what medical specialists should be available after delivery, what treatments or interventions might be recommended, and gives people time to prepare emotionally.  In some cases, it can prevent a long diagnostic odyssey. For example, the average years to diagnose 22q11. 2 deletion syndrome is 4 years. We can now screen for 22q11.2 with cfDNA.

From a research perspective, Natera is committed to peer-reviewed publications for all our tests. I’m proud to say there are over 100 peer-reviewed publications across all our products and 25 of those are specific to Panorama NIPT.  We recently published the results of the SMART study which is the largest prospective NIPT study ever conducted in a general population.

One of the reasons we sponsored this 20,000 patient study was to confirm Panorama test performance in the general population, which we did. However, more importantly, this study provided information on the incidence and test performance of 22q11.2 deletion syndrome. Individuals with this condition can have heart defects, immune deficiency, low calcium levels, cleft palate, learning differences, and schizophrenia.

With this study, we confirmed that this condition is not rare, in fact, in this cohort we found that the incidence was approximately 1 in 1500 pregnancies, which is more common than other conditions routinely screened in pregnancy. This peer-reviewed published data supports offering screening for 22q11.2 deletion syndrome to all pregnant individuals.

You are currently pushing the boundaries of testing management within science. How important is innovation to the field of genetic testing?

Innovation is incredibly important to translating advanced genetic technologies into usable and informative tests for the general public. One example of innovation from Natera’s R&D team is the application of AI to the Panorama algorithm.

Through analyzing millions of tests, the Panorama AI algorithm was able to reduce the number of “no results” while maintaining high test sensitivity and specificity. We also applied algorithm improvements to NIPT for 22q11.2 deletion where we improved our detection of various deletion sizes and increased the positive predictive value of the test from 20% to 53%.

However, innovation applies to more than the tests. It’s important to the overall infrastructure of testing. How easy is it for a healthcare provider to order the test and get results? Do patients and ordering providers have access to education and information during the entire testing journey? We wanted patients to have access to our genetic education services 24/7, so our genetic counseling team worked with our user experience and engineering teams to build NEVA, Natera’s educational virtual assistant. This is a chatbot that can provide pre-test education as well as post-test result information across many of our products.

Patients can even schedule an appointment with a Natera genetic counselor through NEVA.  About 30% of patients use this outside of normal business hours, which means NEVA helps patients access information when it’s most convenient for them.

Genetic Testing

Image Credit: Natali _ Mis/Shutterstock.com

What do you believe the future of reproductive genetic testing looks like? Are there any particular trends that you foresee?

We are moving towards having the ability to screen individuals and pregnancies for a larger number of conditions. We have seen this across preimplantation genetic testing, carrier screening, and NIPT. Of course, it’s critical that as expansion occurs, there is a high level of test performance and that genetic education and counseling be available to anyone interested in testing. Equitable access to testing is necessary as well.

Do you believe that with continued innovation at Natera, you will continue to change the ways that diseases are managed? What would this mean globally?

As Natera continues to explore the potential applications of cfDNA, this could definitely have an impact on disease management and treatment. There are several studies currently looking at the need for chemotherapy for colorectal cancer patients based on the presence of ctDNA, or tumor fraction of cfDNA, regardless of cancer stage.

Also, the Prospera transplant assessment test is able to monitor for solid organ transplant rejection more accurately than existing biomarkers. Since rejection is the most common cause of transplant failure, early, more accurate detection will have a significant impact. Globally, these tests could impact the treatment and monitoring of both cancer and transplant patients and optimize treatment.

What is next for Natera? Are there any exciting projects that you are involved in?

The women’s health division is collaborating with clinicians to engage in clinical research aimed at improving and expanding the Panorama NIPT product. We are also looking at ways to improve overall maternal/fetal health during pregnancy through early identification of potential perinatal complications. I’m also really excited about partnering with our newest business unit for early cancer detection.

Where can readers find more information?

Natera’s website has a wealth of information for both patients and clinicians. We run a women’s health blog, as well as host videos, peer-reviewed research, and webinars.

About Sheetal Parmar

Ms. Parmar is vice president of medical affairs and head of clinical services at Natera. She is a board-certified genetic counselor specializing in prenatal diagnosis and screening. Sheetal received her BA in Molecular and Cell Biology from UC Berkeley and her MS in Genetic Counseling from the University of Cincinnati, where she was a Albert C. Yates Scholar and Fellow. She joined Natera after working for 11 years as the lead prenatal genetic counselor at a high-risk prenatal diagnosis clinic and cytogenetic laboratory.Sheetal Parmar

She has served on the Board of Directors for the National Society of Genetic Counselors (NSGC) and is currently a site visitor for the Accreditation Council of Genetic Counseling (ACGC). In 2020, Sheetal received the Leading Women Entrepreneur Force for Change Illuminator award for her contribution to Natera’s positive impact on the lives of others during the COVID-19 pandemic.

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