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Saul Marquez, Host at Outcomes Rocket Podcast

Pushing the Boundaries of Molecular Diagnostics

Monday January 6th 2020

Pushing the Boundaries of Molecular Diagnostics

DNA Molecular composition


Genomic science continues to advance and improve the ways we diagnose and treat patients seeking answers and treatments.  The applications of this science are allowing for more targeted diagnosis and personalized treatment than was ever possible.  The areas where we can continue making advancements with the ability to analyze biological markers in the genome are expanding, but it takes time.  One area that has a huge opportunity for improvement using these approaches in prenatal genetic screening.


Pregnancy can be an exciting time for many women. It can also be a source of worry and anxiety, especially when you hear your doctor mention prenatal genetic screening. 


Prenatal genetic screening tests are a series of procedures done on expectant mothers to check whether the baby is likely to have specific birth defects. If you’re an expectant mother, you’d like to imagine that your baby is healthy and well, but that’s not always the case when it comes to pregnancy. 


According to the Center for Disease Control and Prevention (CDC), 1birth defects are common, affecting one in every 33 babies born in the United States. It is also the leading cause of infant death, accounting for 20% of all infant deaths. 


Birth defects can happen at any stage of the pregnancy, though most defects occur in the first trimester when the baby’s organs are forming.


The Traditional Screening Route

The first prenatal genetic screening is usually done between weeks 11 and 14 to measure certain chromosomal conditions to evaluate your risk of carrying a baby with Down Syndrome, as well as the risk of Edward Syndrome (trisomy 18).  


The second-trimester prenatal screening is done between weeks 15 and 20 and tests multiple markers like the alpha-fetoprotein screening (AFP), human chorionic gonadotropin (hCG), estriol, and inhibin. The result of this test will determine if you need additional testing for your pregnancy. 


If you have a family history of certain birth defects, have had a pregnancy or child with a birth defect, or you have an abnormal genetic test result, you may likely undergo amniocentesis, the removal of a small amount (less than an ounce) of amniotic fluid through the insertion of a fine needle into the uterus. 


All these tests mean spending more time, effort, and money. Is there a way to streamline the process while delivering accurate results? The answer is yes and the solution comes from BillionToOne.


Improving Results, Reducing Risk

BillionToOne is a venture-backed molecular diagnostics company. Its patent-pending QCT molecular counter platform is the only technology platform that can accurately count the DNA molecules using Next-Generation Sequencing. This technology unlocks a wide range of diagnostics from a single gene non-invasive prenatal testing to quantitative liquid biopsy applications for cancer. 


The company launched its first product, a prenatal test called UNITY— the only non-invasive prenatal test that uses a single sample of the mother’s blood to determine whether the baby has inherent disorders such as cystic fibrosis and sickle cell disease. 


In my podcast interview with Dr. Oguzhan Atay, co-founder, and CEO of BillionToOne, he explained his thoughts on molecular diagnostics and why it is critical that these tests be designed as quantitative. 


He said, “Sequencing has been improving really exponentially. When there is an exponential trend to possibilities, its pull up is almost limitless. But even with these improvements, we don’t get as much out of this data as we initially imagined, and the quantitative approach to biology almost from the fundamental physical principles allows one to ask what is possible instead of just lightly doing trial and error experiments that only improve outcomes and tests in incremental changes. I think it allows you to do innovation in an almost paradigm change.”


Approaching Molecular Diagnostics with a Different Lens

Atay and team approach molecular diagnostics from a more fundamental physics or engineering way.  It is a very different way of approaching problems than a lot of traditional biology approaches. “Now that we are learning and knowing much more about biology, I think it is time for us to be able to use those approaches to make great innovations in medical care.”


BillionToOne’s revolutionary UNITY test can count individual molecules, improving cell-free DNA diagnostic resolution by more than a thousandfold. This means it is now possible to do prenatal and oncology tests that were previously only possible via invasive technique. 


Dr. Atay further explained, “ If you think of your genome as a huge library, most of the disorders, most of the genetic disorders are caused by these single-letter changes, not these huge chunks of the library disappearing. UNITY allows us to look at these disorders like cystic fibrosis and muscular atrophy and sickle cell disease from maternal blood and find out whether the baby has inherited these disorders.”


Currently, invasive tests like amniocentesis and chorionic villus sampling  (CVS) are the most commonly used invasive prenatal test for fetal genetic diseases, but both can increase the risk of miscarriage which is why it is not offered to all women but only to those whose screening tests show an increased risk of Down syndrome. 


The Key Difference

Dr. Atay mentioned that UNITY allows them to take a single sample of blood from the mother and find not only whether the mother is a carrier for the disorder, but also whether the baby has inherited that disorder. 


He stated, “It (UNITY) really allows us to quantify the level of the mutations that you have, for instance, for cystic fibrosis versus the non-mutated DNA molecules. And by being able to truly quantify that, we can see the additional contribution that is coming from the baby. So we can say that the baby has two copies of this DNA molecule that has mutated because we say there are more molecules with the mutation than kind of wild type the original molecules in maternal blood.”


Dr. Atay claims that with true quantification, you can tell the baby’s gender, eye color, hair type — anything and everything about the baby’s genetics. They’re working to continue adding insights to the list of things we can find through quantification to improve outcomes by reducing the invasiveness of the tests while increasing their accuracy..


With technology like UNITY, expectant mothers, parents, families have a head start in coping with the possible implications of the disorder. It gives you the opportunity to plan ahead and look for the best possible health care solution for the baby with a less invasive test that doesn’t cost more than existing technology.  


For more information on the groundbreaking work BilliontoOne is doing check them out here.  To check out my podcast interview with Dr. Atay, listen here




Written By

Saul Marquez

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