Introducing GeneCompass: The First Holistic, Medical-Grade, Preventative Genetic Test for Consumers

TL;DR: Our team at Phosphorus is proud to introduce GeneCompass: a medical-grade, preventative genetic test meant for everyday consumers. This is the first single, medical-grade genetic test that covers the genetics of disease risks across medicine, along with medication interactions and wellness & lifestyle predispositions available to consumers online at $249.

1. A best in class genetic test: Using the latest Next Generation Sequencing (NGS) technology, Phosphorus developed innovations in chemistry, bioinformatics, and workflow, resulting in a vertically integrated operating system for clinical genomics all within our state-of-the-art CLIA and CAP certified clinical laboratory.
2. A significant decrease in cost: Traditional medical laboratory testing for just subsets of the conditions are billed between $1500 to upwards of $10,000. Often these tests is only covered by major insurance companies after patients or their family members are already sick or worse. By making a medical-grade test more cost-effective, we are able to operate outside of managed care, improving access as a preventative tool.
3. A clinically supported experience: We integrate best practices in education and follow-up by including a physician review with every test as well as tele-health enabled post-test genetic counseling session for all patients with a high-risk result.

You can order the GeneCompass test on our website. A saliva collection kit will be mailed for you to collect from the comfort of your home. Results are available within 3–4 weeks after returning your sample.

At Phosphorus, we are working to extend and improve lives by making genomics a foundational part of everyone’s health and wellness journey.

Team Phosphorus is proud to introduce our newest product, GeneCompass. It’s the first, holistic, preventative, genetic test built with medical-grade technology for consumers.

What do we mean by medical-grade?

Medical grade tests follow best-practices in sequencing genes that may cause disease. For most conditions tested for on the GeneCompass test, entire gene sequences are able to be analyzed by using a technology called Next Generation Sequencing (NGS). In contrast, many other consumer genetic tests make use of a technology called DNA Microarray, which only analyzes a few snippets of a gene, often less than 1% of the potential variants.

What do we mean by holistic?

A holistic test covers your health across the spectrum of clinical care. Most genetic tests in medicine are offered only for specific conditions. For example, an oncologist will only assess your risk for genetic cancers whereas a reproductive endocrinologist will only assess genetic conditions that impact pregnancy. We have built a test that spans medical disciplines giving a much more comprehensive assessment of your health. We also included a wellness section to provide information that can impact lifestyle decisions that may not be severe in nature.

What do we mean by preventative?

A preventative test is done before you are sick. In most cases, conditions tested for on GeneCompass would not typically be covered by your insurance company unless you or a loved one was already sick. We aim to change this.

How is GeneCompass different from what’s already out there?

Genetic testing is a fast-growing industry in the United States. In my view, there are four broad categories of tests most may be familiar with:

1. Reproductive Screening: Non-Invasive Prenatal Testing, Expanded Carrier Screening and tests are now almost routinely performed in reproductive medicine. However, this type of testing focuses on screening unborn children for rare and severe genetic disorders. It largely excludes conditions that affect adults throughout their lives.
2. Clinical Oncology: For patients with a cancer diagnosis, Tumor Profiling (sequencing the DNA of a tumor) and Liquid Biopsies (sequencing DNA from tumors that may be circulating in the blood) will hopefully become routine as part of treatment. Data from these tests significantly improve outcomes for cancer patients, helping to personalize treatment and care.
3. Consumer Ancestry Testing: Most Americans are familiar with consumer ancestry testing. Companies like 23andMe and Ancestry.com test markers in our DNA to determine our ancestral origins. The technology employed here, DNA Microarray, is excellent for this use case, but as discussed in publications ranging from Genetics in Medicine to the New York Times, it can lead to misdiagnosis when employed in a medical setting for disease.
4. Germline Testing: Germline testing, which we specialize in at Phosphorus, involves sequencing the genes we inherited from our parents to determine what diseases and predispositions may affect us throughout our lives. Most germline testing is performed by traditional reference laboratories (Labcorp, Quest, Ambry Genetics), and tests are typically only ordered by specialist physicians after patients meet the requirements of arcane medical policies as dictated by private insurance companies. Insurance typically only pays for testing in cases where patients or loved ones meet strict criteria, often at a cost ranging from $1,500-$10,000. For this reason, germline testing is rarely ordered. In fact, fewer than 5% of adults have received multi-gene germline tests in a medical context.

GeneCompasss is a germline genetic test that screens for inherited genetic conditions ranging oncology to cardiology, hearing loss to vision loss, infertility to endocrinology, gastroenterology to mental and behavioral health, response to medications, as well as sleep, nutrition, exercise and diet. The test can help patients take actions much earlier in their life that may help mitigate and even prevent serious health issues down the road.

At Phosphorus, we believe it is time for a paradigm change away from waiting for patients or their loved ones to be sick before ordering genetic tests. Our GeneCompass product was built to make germline testing available in a preventative context for everyone.

With such potential, why is preventative genetic testing not available de facto in medicine?

The most well-known example for germline genetic testing is the BRCA1 gene, which when broken can cause inherited breast and ovarian cancer syndrome. BRCA1 was discovered by Dr. Mary-Claire King after decades of research, the locus finally being reported at the American Society of Human Genetics meeting in October of 1990. The initial technologies developed to sequence the gene were commercially available by the mid-late 1990s at a cost of more than $5000 for just one gene.

Due to the high cost of testing (maintained for a while due to a patent on this gene), insurance companies would not pay for BRCA1 testing unless a patient had a breast cancer diagnosis. Reasonably so — this price point was far too expensive to consider deploying widely to the population. Reimbursement policies developed by insurance companies around the turn of the century evolved somewhat, however they exist today like vestigial organs in our healthcare system, focusing on restricting who qualifies for testing, preventing access to the potentially life-changing technology that is the human genome (which, by the way, the U.S. government financed for nearly $3 billion). Again, most payer policies typically require a patient or family member to already be sick before providing any coverage for conditions on the GeneCompass test.

Historically high costs and arcane commercial payer policies have limited access to genetic testing.

While the cost of sequencing the genome in the clinic has theoretically come down since the early 2000s, most major medical laboratories still charge $1500 — $10,000 for testing of panels of around 100 (or fewer) targeted genes, depending on the specific group of genes being sequenced. These prices reinforce restrictive medical policies from the major insurance companies. As a result, despite all the advances in genomic technologies, meaningful price reductions and access in the clinic has been stunted.

Patient awareness can lead to policy change.

In 2013, Angelina Jolie published an op-ed in the NYT detailing her mother’s fight with cancer and her personal journey navigating BRCA testing and preventative surgery. This kicked off a wave of patient awareness, resulting in an immediate increase in genetic tests ordered for breast cancer among women. This moment also brought support to a significant supreme court decision removing patents on genes.

While there were some initial challenges with the sudden increase in BRCA testing, this patient-driven demand ultimately resulted in a 2019 recommendation by the United States Preventive Services Task Force (USPSTF) for routine assessment for breast cancer and subsequent genetic testing. Nearly 30 years after Dr. King’s discovery, there was finally support for coverage of BRCA screening.

Importantly, preventative screening tests are legislatively excluded from coverage until the United States Preventive Services Task Force (USPSTF) makes a recommendation. Without anyone willing to pay for testing, obtaining data for the USPSTF is somewhat of an outstanding chicken and the egg problem. Until then private insurers are not required to cover testing.

Outside of BRCA1/2 and very few other contexts, genetic testing is only reimbursed by major insurance companies after a patient or a family member displays symptoms for a condition. Sometimes this can be too late. One group of inherited conditions on the GeneCompass test can cause Sudden Cardiac Death (SCD) as the first symptom. Mutations in other genes may lead to vision loss, cancer, hearing loss, liver disease or infertility. We need to move away from waiting for people to get sick before attempting to diagnose and treat them.

The GeneCompass test is available at $249, inclusive of analysis of more than 400 genes most well-understood to be associated with health risks, response to medications and wellness predispositions. The test also includes physician oversight and a post-test consultation with a board certified clinical genetic counselor. We expect to continue to drive down cost while studying the impact of preventative testing to one day help make the case for ubiquitous coverage. Everyone should have access to this potentially life-saving technology.

Why is Phosphorus the first to do this?

The team at Phosphorus has over 50 years of collective experience innovating, building and bringing clinical genetic tests to healthcare providers and their patients. Our founding and leadership team have personally led the development of industry-defining testing technologies. We have overseen the migration from older to newer technologies in various clinical settings throughout the years. Together, we built a vertically integrated genomics platform that allows us to meaningfully reduce the cost of medical-grade genetic testing. We did this using a technology called Next Generation Sequencing (NGS) in combination with our proprietary bioinformatics and software for analyzing the human genome.

GeneCompass is the most cutting-edge, medical-grade, and cost-effective genetic test available to consumers today. We developed a patient experience that includes healthcare providers to ensure patients comprehend and follow-up appropriately on their results. We chose to do this outside of the constraints of insurance company-based medical policies so that we can focus patient care, not on reimbursement.

Over 80 years of collective wisdom dating back rom Watson & Crick through the Human Genome Project have been distilled into a product that can truly improve and even save lives. More than 40% of our patients learn information that may be valuable to their healthcare throughout their lives. The technology powering our product is already in use by many institutional partners ranging from commercial laboratories to fertility clinics to hospitals. One day access to preventative genomics will not seem like a revolution, but will be understood to be a right for everyone.

How can I get tested?

GeneCompass can be ordered online through our website here. A self-collection kit will be sent to your home where you can comfortably collect your saliva sample and return it to our laboratory. We hope you will trust GeneCompass to guide you on your preventative genomics journey.