Pathway Genomics Files for IPO to Accelerate Leadership in Precision Medicine

Headquartered in San Diego, California, Pathway Genomics is a clinical laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA) and accredited by the College of American Pathologists (CAP). It has been providing physicians and their patients in more than 40 countries worldwide with precise genetic information to enable targeted treatment plans, thereby improving or maintaining health and well-being.

Since its founding in 2008, Pathway Genomics has been renowned for its commitment to innovation and medical responsibility, emerging as a leader in the commercialized genetic testing industry. As shown in Figure 1, Pathway Genomics’ testing services cover a comprehensive range of areas, including liquid biopsy, cancer risk, heart health, genetic disorders, weight management, and specific drug responses, including medications for pain management and mental health.

Figure 1: Pathway Genomics’ Testing Services

Let’s take a look at the company’s initiatives in the healthcare industry:

Purchased the next-generation sequencing system Illumina NextSeq 500

In January 2014, at the 32nd annual J.P. Morgan Healthcare Conference (the largest healthcare investment conference in the industry), Illumina announced the launch of two new sequencing platforms: the HiSeq X Ten and the NextSeq 500. The HiSeq X Ten is a factory-scale sequencer suitable for population-scale sequencing, while the NextSeq 500 is a new desktop high-throughput sequencer that is comparable in size to the MiSeq but offers performance on par with the HiSeq series.

In March of the same year, Pathway Genomics announced the acquisition of the Illumina NextSeq 500 system, adding it to its portfolio of next-generation sequencing (NGS) instruments to strengthen the company’s existing mature and efficient laboratory workflows. With its push-button operation, the NextSeq 500 can complete various mainstream sequencing applications within a single day’s run time. Leveraging the instrument’s simplified bioinformatics parameters, the resulting sequencing data can be processed using a range of downstream commercial products.

Dr. David Becker, Chief Scientific Officer at Pathway Genomics, stated, “The addition of this advanced sequencing system provides our clinical laboratory with another powerful tool, expanding our current sequencing capabilities. Our primary goal is to deliver timely and accurate laboratory results to physicians and patients, and the NextSeq 500 is a key factor in bringing us closer to achieving this objective.”

The NextSeq 500 not only offers high-throughput sequencing capabilities and the convenience of a load-and-go desktop sequencer, but it is also the only NGS system capable of performing a single-run, high-coverage whole-human genome sequencing. Ardy Arianpour, Chief Strategy Officer at Pathway Genomics, stated, “Acquiring our first Illumina NextSeq 500 sequencer has differentiated us from competitors in the clinical diagnostics sector. Speed, efficiency, and accuracy are critical to us, and currently, the NextSeq 500 is the fastest sequencer for generating real-time results in genomic, exome, and targeted sequencing.”


Launch of High-Risk Gene Test Kits for Breast Cancer and Other Conditions

In 2014, the company launched the BreastTrue™ High Risk Panel, a next-generation sequencing-based test that utilizes blood or saliva samples to detect mutations in seven high-risk breast cancer susceptibility genes through deletion and duplication analysis. Recent reports on studies involving breast cancer survivors indicate that nearly 70% of the mutations identified were in BRCA1/2. Approximately 4% carried germline mutations in other cancer susceptibility genes. These additional high-risk genes include CDH1, PALB2, PTEN, STK11, and TP53. All of the aforementioned genes can be analyzed using the BreastTrue High Risk Panel.

Jim Plante, Founder and CEO of Pathway Genomics, stated, “The development and commercialization of high-risk breast cancer testing kits are essential to effectively serve physicians and patients. The company’s mission is to provide the medical community with the most precise and comprehensive genetic testing, and we will continue to innovate to achieve this goal.”

Diseases such as Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer syndrome can significantly increase the risk of breast cancer. Testing for genes associated with these conditions has become an essential component of the clinical management of patients with a family history of breast cancer.

A recent large-scale study published in The New England Journal of Medicine has also confirmed that PALB2 gene mutations are a significant pathogenic factor for breast cancer risk. Ardy Arianpour, Chief Strategy Officer at Pathway Genomics, stated, “BreastTrue is the industry’s first high-risk breast cancer test kit to incorporate full-gene sequencing of PALB2. Since we entered this market, cancer centers, genetic counselors, and clinicians currently placing orders with us have been requesting the delivery of such a product.”

In addition to launching the BreastTrue High Risk Panel, Pathway Genomics also offers other hereditary cancer tests for individuals and/or families with a family history of cancer. These testing options include targeted panels, comprehensive gene panels, and numerous reflexive testing options. The details are as follows:
 BRCATrue™ (Comprehensive Analysis of BRCA1 and BRCA2 Genes)
 BRCATrue™ Ashkenazi Jewish (3-Site) (Analysis of 3 Common Ashkenazi Jewish Mutations)
 BRCATrue™ Hispanic (8-Site) (Analysis of 8 recurrent pathogenic mutations in Mexican and Hispanic populations)
 ColoTrue™ (Analysis of 14 High-Risk Colorectal Cancer Pathogenic Genes)
 LynchSyndromeTrue™ (Comprehensive analysis of 5 Lynch syndrome-related genes)

Partnering with IBM

In May 2015, IBM invested over $1 billion to establish a new business group for its Watson supercomputer, dedicated to developing and commercializing technologies that support cloud delivery models and innovations in cognitive computing. In November, this business group officially announced its investment in Pathway Genomics’ applications. Through the collaboration between the two companies, Pathway Genomics will leverage Watson’s powerful natural language processing capabilities to respond to user-submitted queries and provide answers based on users’ biological data.

For instance, users can consult on how to regulate their daily exercise intensity, determine the optimal duration of sleep per day, and ascertain the maximum safe daily coffee consumption. The application then provides feedback based on medical journals or clinical trial data, offering personalized professional recommendations tailored to the user’s daily habits and lifestyle data.

Figure 2: Watson Health Management System

Liquid Biopsy

The Cancer Intercept™ test developed by the company is a mutation panel designed for the detection of somatic mutations, primarily covering breast cancer, ovarian cancer, lung cancer, colorectal cancer, and melanoma. These tests must be ordered by a physician and can be used to detect cancer in patients who have already been diagnosed with cancer or are suspected cases pending confirmation. Results are typically available within 2–3 weeks. The product details are as follows:
 CancerIntercept™ Detect
 CancerIntercept™Monitor
The table below compares conventional cancer biopsy with Pathway Genomics’ liquid biopsy, highlighting the distinct advantages of liquid biopsy:
Pharmacogenomics Testing (Pharmacogenomics)

Pharmacogenomic testing identifies which genes contribute to individual variations in pain response, mental health differences, and responses to cardiovascular medications. The specific products are as follows:
 Cardiac DNA Insight™ (Tests genetic risk for various heart-related diseases, including 8 medications affecting the cardiovascular system)
 Mental Health DNA Insight™ (Identifies genetic variants affecting the metabolism and efficacy of psychotropic medications)
 Pain Medication DNA Insight™ (Identifies which genes affect the analgesic efficacy of commonly prescribed pain medications)

Basic Health Services (General Health & Wellness)

Tests in this category analyze selected genomic markers to provide physicians with a deeper understanding of patients' disease risks. These tests help individuals better understand the interplay between their genetics and specific dietary habits, nutritional needs, physical activity levels, and other health factors. This information is crucial for long-term, comprehensive health management and successful weight loss. The products are detailed as follows:
 Cardiac DNA Insight™ (Tests genetic risks for various heart-related diseases, including responses to 8 drugs affecting the cardiovascular system)
 Cardiac Healthy Weight DNA Insight™ (Provides personalized healthy weight loss recommendations based on genetics)
 Healthy Weight DNA Insight™ (The Most Comprehensive Genetic Testing Information Related to Weight)
 Healthy Woman DNA Insight™ (Helps promote better postpartum weight loss and improve health status in women)
 Pathway Fit® (analyzes over 75 genetic markers affecting human metabolism)

By Chen Kun
Editor: Zhang Nan