Unlocking Our Genetic Code
As DNA testing has become consumerized, the field of genomics has become more public and more controversial than ever.
As 23andMe’s stock continues to tumble and pushback around genetic engineering for “designer” babies mounts, the conversation around DNA testing and whole genome sequencing has become extremely controversial. Despite some of the negative press around the field of genomics, understanding our genes has a massive impact on medicine and our daily lives. Recent technological advancements have allowed us to finally be able to test and map our DNA at an affordable price, making it widely accessibility for patients, as well as a powerful tool to advance research and drug development within medicine.
To put it simply, our DNA makes up our genes and all our genes are part of our genome. Deoxyribonucleic acid (DNA) is the hereditary material that carries genetic information for the development and functioning of an organism. It is nearly the same in every cell in a person’s body and makes each of us who we are. Genetics is the study of individual genes and their roles in inheritance, specifically traits or conditions passed from one generation to the next. Genomics is the study of the complete set of DNA within an organism, also known as genomes. Genomics involves analyzing and interpreting the structure, function, evolution, and mapping of genomes using high-throughput DNA sequencing technologies and bioinformatics to assemble and analyze function and structure. Our genetic code is a set of rules used by living cells to translate information encoded in genetic material (DNA or mRNA) into proteins critical for life. The code defines how sequences are translated into amino acids, which are the building blocks of proteins.
Our genetic code makes up the foundation of biological diversity allowing for the complex arrangement of amino acids in proteins, leading to a wide range of biological functions. Understanding this code enables researchers to identify genetic disorders, develop gene therapies, and engineer drugs that target specific diseases at the molecular level. Comparing genetic codes across species helps scientists trace evolutionary relationships and understand the molecular basis of evolution. The genetic code is also a fundamental element in biotechnological applications such as genetic engineering, where modifications to DNA can lead to beneficial traits in organisms. Humans have used genetic engineering to produce human insulin, human growth hormone, and other pharmaceuticals in bacteria and other microorganisms as well as produce a whole new class of foods, commonly referred to as GMOs, that are larger, tastier, and more resistant to pests. The discovery and understanding of our genetic codes have helped revolutionize biology and medicine, providing the basis for genetic engineering, molecular medicine, and synthetic biology.
In recent years, there have been significant developments in the field of genomics that have reduced the price of whole genome sequencing (WGS) from billions of dollars to less than $1,000 today. Genetic testing is a useful tool for patients with a history of hereditary diseases who want to be proactive about their health and care. It is specifically useful in cancer research and early diagnosis of rare diseases. One of the most widely known uses of genetic testing in medicine is for the BRCA1 and BRCA2 gene mutation which is known to cause breast and ovarian cancer in women as well as a higher risk of prostate cancer in males. Diagnostic developments through genetic testing have drastically changed the landscape of early detection and treatment of diseases.
Genetic testing has also made massive strides towards providing tailored treatments and predictive testing. Genetic insights can help guide treatment plans that are more effective and have fewer side effects. These tests can also predict the likelihood of developing certain diseases, allowing for preventative measures and vigilant monitoring. After diagnosis, genetic testing provides valuable information about disease progression and expected outcomes. There are many genetic predispositions within certain populations that can also be detected through broad testing, such as sickle cell anemia in Africans and Tay-Sachs disease in the Ashkenazi Jewish population.
Family planning has also been significantly impacted by genetic testing. Genetic testing offers couples insights into their carrier status for various genetic disorders, which allows them to make informed decisions about family planning. Many families undergo prenatal testing to determine chances the fetus has certain genetic disorders or the parents’ likelihood of passing on certain gene mutations. Families that go through in vitro fertilization (IVF) are able to undergo preimplantation genetic testing (PGT) which is an early form of genetic diagnosis where abnormal embryos are identified and only genetically normal embryos are used for implantation to prevent genetic disorders in IVF babies. There has been some controversy around the ethics and feasibility of determining polygenic risk scores through these tests, but single gene mutation testing has been in use for many decades.
Company highlight: Orchid is a whole genome screening company for embryos conceived by IVF to find the embryo at lowest risk for a genetic disease. Their test looks for single gene mutations as well as a medley of common and rare gene variants known to predispose people to neurodevelopmental disorders, severe obesity, and certain psychiatric conditions such as schizophrenia.
While for many years genetic testing and genome sequencing had been reserved for physicians and scientists, there has been a significant rise in the use of this technology by the general public. The consumerization of genomics is primarily due to the increasing affordability of these services and growing interest in personal health and ancestry information. In response to increased consumer demand for personalized genetic information, there has been a massive expansion of direct-to-consumer testing companies.
One of the most notable companies tackling this market is 23andMe, which provides D2C genetic testing for ancestry and genetic predispositions through saliva samples. 23andMe raised over $850 million from investors, went public in 2021 through a merger with a SPAC, and was at its peak valued at $6 billion. Since going public, the company has fallen short of expectations with its stock now trading below $1 with looming threats of being pulled from the Nasdaq. On top of poor financial performance, the company is facing more than 30 lawsuits after a data break exposed personal information from almost 7 million user profiles. There are talks the company will be taken private and potentially split its consumer and therapeutics research business. The rise and fall of 23andMe highlights both the potential value and the risks that the democratization of genetic information poses.
In the wake of 23andMe’s mess, there have been several companies emerge aiming to tackle the same market segment. One company in particular, Nucleus Genomics, recently raised $18M from Founders Fund and 776. The company is partnering with life sciences leader Illumina to bring whole genome sequencing to the masses for just $399. Nucleus offers consumers a comprehensive risk analysis for rare and common diseases with the goal to make DNA actionable for consumers, focusing on preventative diagnostics and lifestyle changes versus treatment of diseases and disorders after they arise. It is estimated that the D2C genetic testing to be a ~$8.6 billion market by 2033.
Company highlight: Myriad Genetics is credited with inventing and commercializing the gene mapping technique, Restriction Fragment-length Polymorphisms (RFLP), which was an important early tool in genome mapping and testing. The firm established the first clinical lab to commercialize genome testing and pioneered the field of DNA-specific medication. The company was formed in 1991 and now offers an array of genetic testing and precision medicine services to patients through providers.
With the increasing awareness and understanding of genomics and access to genetic testing, consumers are now able to take more control over their health and wellness, prioritizing preventative health and knowledge of risk. With this access to data comes many challenges due to the inundation of data that can sometimes be harmful for consumers who aren’t equipped with the right tools to interpret and digest results. Consumers can easily misinterpret genetic information and potentially implement drastic changes in an attempt to combat disorders and diseases that may never even present themselves.
It is important that as we continue to utilize advances in technology for genetic testing, we increase collaboration between D2C companies, patients, and healthcare systems to improve clinical validity and utility of these tests. We must take it upon ourselves to be educated on the benefits and limitations of these services and be able to make informed decisions about their use in consumer settings. As the market evolves, it is important to balance consumer empowerment with safeguards to protect privacy and ensure accurate, useful results.