Why Pathway Genomics. Advanced Genetic Testing Laboratory. General Health and Wellness. Liquid Biopsy. Hereditary Cancer.

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1 Advanced Genetic Testing Laboratory General Health and Wellness Liquid Biopsy Hereditary Cancer Pharmacogenomics Carrier Screening Why Pathway Genomics Founded in 2008, Pathway Genomics offers digital healthcare and genetic testing. Based in San Diego, our CLIA and CAP accredited clinical laboratory provides physicians and their patients in 40+ countries with actionable and accurate precision healthcare information to improve health and wellness. We believe in using the power of genomics first to make proactive, informed decisions about health and lifestyle. Our physician-ordered tests include assays for diet and weight loss, circulating tumor DNA mutations (liquid biopsy), hereditary cancer and carrier screening, as well as metabolic response for many commonly prescribed medications The CAP Certification Mark is a service mark owned by CAP and is used pursuant to a license from CAP. CLIA No. 05D CAP No

2 Advanced Genetic Testing Laboratory Pathway Genomics is a leader in the commercial laboratory industry known for dedication to innovation and cutting-edge technology in the genomic space. Pathway Genomics is a global CAP and CLIA accredited clinical laboratory focused on providing users with the most validated and personalized healthcare information. Our recent partnership with IBM Watson is the first to merge artificial intelligence and deep learning with precision medicine to help both providers and patients. What are the benefits of genetic testing? Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their healthcare. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring and treatment options. Some test results can uncover hereditary genetic factors (a higher-than-usual chance of having common disorders, such as heart disease, high blood pressure, stroke, certain cancers and diabetes) and help people make decisions about having children. 1

3 How do I incorporate genetic testing into my practice? Utilizing genetic testing as an up-front tool to help inform and guide healthcare decisions for your patients can offer powerful benefits. DNA analysis provides detailed information about your patients regarding how they process nutrients, what exercises and diets work best, hereditary risks for certain cancers and what medications and dosages work best for their body. Here are some simple guidelines to help incorporate genetic testing into your practice: 1. Establish practice protocols for genomics first testing. Baseline your patients with genetic testing before you treat. For example: a. PathwayFit for all patients looking or needing to improve overall health & wellness through positive lifestyle changes (wellness visits) b. Liquid Biopsy testing for the detection of circulating tumor DNA (ctdna) for new and existing patients c. SkinFit to help patients proactively address seven categories of skin health and get personalized skin care treatment choices d. Hereditary Cancer Tests for all high-risk patients (breast, colon, ovarian, etc.) e. Incorporate baseline Pharmacogenomic testing for any patient who is going to be placed on medication for pain, cardiac issues or psychiatric management 2. Register for Atrium our virtual physician toolbox for test ordering & report access 3. Pre-order Test Kits to have on hand for upfront testing 4. Take advantage of included Pathway wellness tools, interpretation guides and staff - Genetic Counselors & Registered Dietitians - to help your patients maximize their health (see page 10 for more or visit 2

4 Pathway Product Groups Empowering patients and physicians with genetics-based information to help make better fitness, nutrition and overall lifestyle choices. Liquid Biopsy Blood-based non-invasive tests for the detection of circulating tumor DNA (ctdna). Hereditary Cancer Understand your family history of cancer and learn about future potential cancer risks. Pharmacogenomics Using genetics to understand and optimize the use of commonly prescribed medications. Carrier Screening Understand potential hereditary risks for future children. PathwayFit SWAB SALIVA PathwayFit analyzes over 80 genetic markers known to impact metabolism, exercise and energy use within the human body. It can be used to make behavioral changes, gain insight into your health and help you and your patients make informed decisions regarding diet, exercise and overall lifestyle. Actionable recommendations such as personalized diet and exercise plans that are based on your patient s genetic profile are included with your results. Pathway also provides access to Registered Dietitians and wellness content to ensure PathwayFit will offer a foundation for change. Healthy Weight DNA Insight SWAB SALIVA Healthy Weight DNA Insight is a comprehensive health and wellness genetic test that provides physicians with a unique combination of information regarding nutrigenetics, medication response and a number of common health conditions. Using a proprietary algorithm, this test also provides physicians with a genetically-matched diet that allows them to make specific recommendations to their patients to help them achieve or maintain a healthy weight. 3

5 Healthy Woman DNA Insight SWAB SALIVA Healthy Woman DNA Insight is a precision health and wellness test that analyzes a variety of genetic markers to provide physicians with valuable information about a woman s dietary and nutritional needs, optimal exercise regiments, potential response to a number of medications and the risk of developing a number of common health conditions. Taking special female health circumstances and challenges such as pregnancy, menopause and other gynecological conditions into consideration, the Healthy Woman DNA Insight report includes a patient-specific weight management plan as well as resources and tips to maximize energy levels. Cardiac Healthy Weight DNA Insight SWAB SALIVA Cardiac Healthy Weight DNA Insight is a unique genetic test that provides physicians with a combination of information regarding nutrigenetics and several common health conditions. Using Pathway s proprietary algorithm, Cardiac Healthy Weight DNA Insight reports deliver genetically-matched diets to physicians allowing them to make specific recommendations to their patients to help them achieve or maintain a healthy weight and improve heart health. Cardiac DNA Insight SWAB SALIVA Cardiac DNA Insight analyzes patients DNA to identify specific genetic variants associated with an increased risk of developing certain heart-related health conditions such as hypertension, atrial fibrillation and myocardial infarction. Cardiac DNA Insight also provides insight into patients potential responses to eight classes of commonly prescribed medications that are used to treat heart-related conditions or are known to affect the cardiovascular system. SkinFit SWAB SALIVA SkinFit is a unique genetic test that analyzes over 70 genetic markers associated with seven categories of skin health. SkinFit reports on the individuals genetic predisposition to sun-induced skin aging and sensitivity, dry skin and wrinkle development, skin inflammation and allergy, skin texture and elasticity, skin s protection against oxidation and glycation, and the skin s nutritional needs. Developed with input from major dermatology and aging science research groups, SkinFit also provides personalized skin care treatment choices to guide patients use of skin care products and nutritional support as needed. 4

6 CancerIntercept Detect Liquid Biopsy CancerIntercept Detect can be used by physicians to test for a set of genomic markers (circulating tumor DNA/ctDNA) that have previously been associated with a number of different cancer types such as breast, ovarian, lung, colorectal, melanoma, head and neck, pancreatic, thyroid, prostate and stomach cancers. CancerIntercept Detect is a non-invasive liquid biopsy that is appropriate for individuals that have not been diagnosed with cancer in the past, but are at an increased risk due to: Known Hereditary Cancer Syndrome o Carrier of a BRCA1 pathogenic variant, etc. Family History of Cancer o Mother & grandmother diagnosed with colon cancer, etc. Lifestyle Choices o History of smoking, etc. Environmental Exposures o Previous exposure to radiation, etc. 60% 60% of ovarian cancer is diagnosed after it has metastasized 61% 61% of of breast cancer is diagnosed when it is still localized (6% metastasized) 20% 20% of colorectal cancer is diagnosed after it has metastasized 57% 57% of lung cancer is diagnosed after it has metastasized CancerIntercept Monitor Liquid Biopsy CancerIntercept Monitor is a blood-based tumor profiling test that provides a non-invasive and less expensive adjunct to traditional biopsy methods. Designed for patients that have been diagnosed with cancer, this genomic profiling test provides valuable information that can be used to both personalize and monitor a patient s oncology care. BreastTrue High Risk Panel Hereditary Cancer SALIVA BreastTrue is Pathway Genomics most comprehensive genetic test for high-risk incidences of breast cancer. BreastTrue analyzes 7 high-risk breast cancer genes including PALB2, BRCA1 and BRCA2. 5

7 BRCATrue Hereditary Cancer SALIVA Pathway Genomics BRCATrue is a next-generation sequencing test that searches for mutations in BRCA1 and BRCA2 genes. According to the National Cancer Institute (NCI), having mutations in either the BRCA1 or the BRCA2 gene significantly increases a patient s risk for breast, ovarian and other types of cancer. BRCATrue is also available in targeted panels where genetic testing can offer additional help within specific segments of the population: BRCATrue Hispanic (8-Site) o Analysis of 8 recurrent pathogenic variants in the Mexican and Hispanic populations BRCATrue Ashkenazi Jewish (3-Site) o Analysis of the 3 common pathogenic variants in the Ashkenazi Jewish population ColoTrue Hereditary Cancer SALIVA ColoTrue is a 14-gene hereditary cancer panel for individuals and families with features suggestive of hereditary colorectal cancer. This panel includes full sequencing and deletion/duplication analysis of 13 genes as well as deletion/duplication analysis of the EPCAM gene. In addition, this test also offers site-specific analysis of the MDM2 SNP309 allele. A pathogenic variant in any of these genes warrants consideration for increased colorectal cancer surveillance. LynchSyndromeTrue Hereditary Cancer SALIVA LynchSyndromeTrue is a comprehensive hereditary cancer panel designed for individuals suspected to be at-risk for Lynch Syndrome. It includes full sequencing of MLH1, MSH2, MSH6, and PMS2 and deletion/duplication analysis for the EPCAM gene. 6

8 Mental Health DNA Insight Pharmacogenomics SWAB SALIVA Mental Health DNA Insight is a clinically-actionable genetic test that analyzes patients DNA to identify specific genetic variants that can affect how they respond to over 50 psychiatric medications indicated for: Major Depressive Disorder (MDD) Schizophrenia Bipolar Disorder Epilepsy Seizures Attention Deficit/Hyperactivity Disorder (ADHD) Anxiety Other Neurological Disorders Mental Health DNA Insight is best suited for individuals who are about to start one of the indicated psychiatric medications, as well as for patients who are currently taking these medications but are not getting the optimal therapeutic response. Pain Medication DNA Insight Pharmacogenomics SWAB SALIVA Pain Medication DNA Insight provides physicians with a personalized roadmap for pain medication management by helping identify the appropriate medications and dosage for their patients. Pain Medication DNA Insight analyzes patients DNA to identify genetic variants that can affect how they respond to the analgesic effects (pain relief) of 13 commonly prescribed pain medications including: Opioids (codeine, methadone, oxycodone, etc.) NSAIDs (ibuprofen, meloxicam, etc.) Other common medications including Methotrexate Toxicity Carrier Status DNA Insight Carrier Screening Carrier DNA Insight is a comprehensive preconception and prenatal carrier screening test that provides physicians with information about the risks of inherited diseases and helps explain the complexities of how genetic mutations can be passed down to their future children. Carrier DNA Insight follows the American College of Obstetricians and Gynecologists (ACOG) recommendations and screens patients for more than 70 recessive genetic diseases. 7

9 All of Pathway. All in one place. Pathway Atrium is our newest tool designed to help clinicians receive all of Pathway, all in one convenient place. Order genetic tests, check report progress and view patient results Pathway Atrium does it all. Instant Notifications: Pathway Atrium makes it easy for clinicians to act on patient reports. They can receive immediate notifications when reports are available or require attention and share reports online with their patients. Easy Ordering: Pathway Atrium lets clinicians place kit and test orders as well as view report status online. This means shorter turnaround times and greater efficiency within practice. Integrated Support: Pathway Atrium has the resources clinicians need - tutorials, live chat with Client Services, technical bulletins and more. Connected Across Devices: Pathway Atrium is designed to work across desktop and tablet allowing clinicians to serve patients anywhere. Login to Pathway Atrium at to submit a lab request or download your patient reports today! 8

10 How can I help my patients take proactive next steps based on their Pathway results? Pathway is committed to helping patients improve health through genetics. That means we don t stop supporting you and your patients once the test results are delivered. We provide ongoing support through our physician interpretation guides, white papers and tech bulletins and we also offer the services below at no charge for you and your patients to take advantage of anytime. Wellness 101 Pathway is dedicated to providing precision genetic testing to improve health and wellness, but unlike many of our competitors we also are committed to ensuring that our providers and patients have the resources, action plans and support to make proactive changes based on their test results. From something as simple as a guide to portion sizes to something as complex as personalized, calorie specific, genetic based diet plans, we have the wellness information you need at your fingertips 24/7. Just visit to get the help you need today. Genetic Counselor services Pathway Genomics has a team of licensed, board-certified genetic counselors available to answer any questions a provider or patient may have regarding our pharmacogenomics, hereditary cancer and/or liquid biopsy tests. Registered Dietitian services Pathway Genomics offers practitioners training and support with our team of licensed Registered Dietitians. We help you to interpret and understand your patients health and wellness reports. 9

11 The Pathway Testing Process After the type of test needed is determined, there are 4 simple steps to get results: SWAB SALIVA 1. Order Kits 2. Collect Order test kits online via Atrium, put in a request with your sales manager or call in an order to Client Services at Based on the type of test needed, you provide a swab, saliva or blood sample. 3. Ship You or your staff mail the kit back to Pathway in the pre-paid shipping envelope. Be sure to include your test requisition and consent form as well. 4. Results Within 2-3 weeks, results will be available to the ordering healthcare professional. 10

12 Pathway Genomics First