GENE Investor Presentation Genetic Technologies August 2023
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Genetic Technologies Ltd. aims to become a leader in personalized predictive genomics, outlining strategies for revenue growth and profitability by FY25, with a 29% increase in customer receipts. The company has a comprehensive health portfolio and successful collaborations that position it strongly in the global market. Key achievements include launching tests, enhancing its brand presence, and strong financial performance, alongside commitments to ESG principles.
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Collaborations
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structure and
agreement
types]
Product list
Professor John
Hopper
Professor Graham
Colditz
Professor Bernard
Rosner
Brigham & Women’s
Hospital and Harvard
Medical School, Boston,
Massachusetts, USA –
Principal Investigator of
the Nurses’ Health Study
(International expert in
Biostatistics and breast
cancer epidemiology).
Collaborating on a
project to improve the
GeneType Breast
Cancer Test and to
Cross-validate the
Ovarian cancer test in
the Nurses Health Study
[insert revenue
structure and
agreement
types]
Product list
Deputy Director,
Institute for Public
Health. Washington
University School of
Medicine, St. Louis,
Missouri (International
expert in Biostatistics
and breast cancer
epidemiology).
Collaborating on a
project to validate the
GeneType for Breast
Cancer Test in African
American patients
[insert revenue
structure and
agreement
types]
Product list
Professorial Fellow at
the Centre for
Epidemiology and
Biostatistics in the
School of Population
Global Health,
Melbourne University
Collaborating on a
project to improve the
Genetype for Breast
Cancer Test and on a
joint project with Prof
Emery to develop
clinical utility evidence
for the GeneType tests
[insert
revenue
structure
and
agreement
types]
Product list
Ohio State
University
Memorial Sloane
Kettering Cancer
Professor Jon
Emery
Professor of Primary
Care Cancer
Research at the
University of
Melbourne, and the
Victorian
Comprehensive
Cancer Centre
Collaborating on a
joint project with
Prof Hopper to
develop clinical
utility evidence for
the GeneType tests
[insert
revenue
structure
and
agreement
types]
Product list
Collaborating on a
project to
investigate
modification of risk
in BRCA-positive
patients by
polygenic risk
scores
[insert
revenue
structure
and
agreement
types]
Product list
Collaborating on a
project to
investigate
modification of risk
in BRCA-positive
patients by
polygenic risk
scores](https://image.slidesharecdn.com/gene-updated-investor-presentation-genetic-technologies-9thaugust2023-230809123036-a0921014/85/GENE-Investor-Presentation-Genetic-Technologies-August-2023-7-320.jpg)
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and agreement types]
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and agreement types]
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11
Pathways to Market
Executing a multi-brand strategy
Direct to Consumer
Testing (DTC)
with no medical supervision
Consumer initiated
testing (CIT)
with medical supervision
Medical & Payer
Business to Business
(B2B)
Oncology – GTG
Cardiovascular
Prenatal NIPT
Carrier testing
Clinical & Molecular
Metabolic
Expanded Carrier testing & NIPT
Oncology – MultiTest
Cardiovascular – MultiTest
Metabolic – MultiTest
COVID Risk Test
Pharmacogenomics
[insert revenue structure
and agreement types]
Product list
Ancestry
Paternity
Health & Wellbeing
Pharmacogenetics
Animal
Drug testing
Relationship
DNA Storage](https://image.slidesharecdn.com/gene-updated-investor-presentation-genetic-technologies-9thaugust2023-230809123036-a0921014/85/GENE-Investor-Presentation-Genetic-Technologies-August-2023-11-320.jpg)
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types]
Product list
Our Innovation – Multi-Risk Test
GeneType can identify patients ’at risk’ before onset and aid in the early detection and treatment.
GeneType Risk assessment test for breast cancer has demonstrated improved early stage
detection by 18% and saving approx. US$1.4B per annum4 for the US payer
12
Phase 1 Launch 2
GeneType Multi-
test covers
>70% of mortality
& morbidity
Phase 2 Launch 3
1. TGA, FDA and EU regulatory approval granted to the sponsor, DNA Genotek
2. Commercial availability expected Q1 CY2022
3. Commercial availability upon regulatory approval
4. Budget Impact Model prepared by Alva10
Breast Cancer
Colorectal Cancer
Prostate Cancer
Melanoma
Pancreatic Cancer
Ovarian Cancer
Oncology Cardiovascular
Atrial Fibrillation
Coronary Artery
Disease
Metabolic
Type 2 Diabetes
Diseases Areas
Guideline driven, Actionable results](https://image.slidesharecdn.com/gene-updated-investor-presentation-genetic-technologies-9thaugust2023-230809123036-a0921014/85/GENE-Investor-Presentation-Genetic-Technologies-August-2023-12-320.jpg)
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agreement types]
Product list
[insert revenue structure and
agreement types]
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PHASE 1
Brand Re-Ignition
DTC - Growth strategy for EasyDNA
Brand Refresh
Multi-brand Portfolio
EasyDNA Brand Refresh
Test Rationalization
Website Refresh
Website Development
First-party data collection
Targeted Messaging
Improve User experience and
engagement
PHASE 2
Revenue and Growth Focus
Improved Lead Gen
Google Ads
Facebook Ads
Content & Email Marketing
Influencer Marketing &
Testimonials
New Sales Channels
Amazon store front
Target B2B customer
segments
New Markets
15](https://image.slidesharecdn.com/gene-updated-investor-presentation-genetic-technologies-9thaugust2023-230809123036-a0921014/85/GENE-Investor-Presentation-Genetic-Technologies-August-2023-15-320.jpg)
GENE Investor Presentation Genetic Technologies August 2023
- 1. Genetic Technologies – Investor Update The Future: Unlocking personalised preventative medicine August 9, 2023 Authorised by the Board of Directors of Genetic Technologies Limited ASX: GTG NASDAQ: GENE
- 2. Notice: Forward looking statements The purpose of the presentation is to provide an update of the business of Genetic Technologies Limited (the Company) ACN: 009 212 328 (ASX:GTG; NASDAQ:GENE). These slides have been prepared as a presentation aid only and the information they contain may require further explanation and/or clarification. Accordingly, these slides and the information they contain should be read in conjunction with past and future announcements made by the Company and should not be relied upon as an independent source of information. Please refer to the Company’s website and/or the Company’s filings to the ASX and SEC for further information. The views expressed in this presentation contain information derived from publicly available sources that have not been independently verified. No representation or warranty is made as to the accuracy, completeness or reliability of the information. Any forward looking statements in this presentation have been prepared on the basis of a number of assumptions which may prove incorrect and the current intentions, plans, expectations and beliefs about future events are subject to risks, uncertainties and other factors, many of which are outside the Company’s control. Important factors that could cause actual results to differ materially from assumptions or expectations expressed or implied in this presentation include known and unknown risks. Because actual results could differ materially to assumptions made and the Company’s current intentions, plans, expectations and beliefs about the future, you are urged to view all forward looking statements contained in this presentation with caution. This presentation should not be relied on as a recommendation or forecast by the Company. Nothing in this presentation should be construed as either an offer to sell or a solicitation of an offer to buy or sell shares in any jurisdiction. 2
- 3. Key Messages • Developed a clear Vision and Strategy to be leader in personalised predictive genomics • Our journey from R&D → Commercialisation and the pathway to profitability • Identified the Drivers of Revenue and Pathway to Profitability by the middle of FY25 • Strong momentum in commercial operations with +29% growth in customer receipts • We have a global operation, a comprehensive human and animal health portfolio • Engaged with leading global collaborations • Begun our journey with a strong commitment to ESG principals • Have a well-defined strategic plan to execute on a multi brand strategy in key regions 3
- 4. World leader in personalised predictive genomics Empowering individuals to take control of their health UNIQUE VALUE PROPOSITION Turning cutting-edge science into personalised, predictive tests driven by AI & machine learning techniques Backed by over 20 years of experience, our scientific and clinical teams are translating genetics and clinical information into absolute risk tests that predict risk of chronic diseases before onset Empowering physicians to improve health outcomes for people around the world enabling a new era of personalised medicine. 4 VISION
- 5. 5 World leading portfolio Most comprehensive guideline driven portfolio for human and animal health. • Patented GeneType Multi Risk Test • Non-Invasive Prenatal Testing (NIPT) • Carrier screen testing • Pharmacogenomics • Oncogenetic & Monogenic diseases • Pet care Revenues anchored by our 3 brands to seize a multi Billion-dollar opportunity.
- 6. Global Overview 60 Employees (FTE) globally 40 Countries 25 Patents Granted* (9 Pending Worldwide*) 14 Test Categories 51 Tests 12 Partner Laboratories * Patents granted are specific to the GeneType portfolio of products 6 * Patents granted are specific to the GeneType portfolio of
- 7. 7 Collaborations [insert revenue structure and agreement types] Product list Professor John Hopper Professor Graham Colditz Professor Bernard Rosner Brigham & Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA – Principal Investigator of the Nurses’ Health Study (International expert in Biostatistics and breast cancer epidemiology). Collaborating on a project to improve the GeneType Breast Cancer Test and to Cross-validate the Ovarian cancer test in the Nurses Health Study [insert revenue structure and agreement types] Product list Deputy Director, Institute for Public Health. Washington University School of Medicine, St. Louis, Missouri (International expert in Biostatistics and breast cancer epidemiology). Collaborating on a project to validate the GeneType for Breast Cancer Test in African American patients [insert revenue structure and agreement types] Product list Professorial Fellow at the Centre for Epidemiology and Biostatistics in the School of Population Global Health, Melbourne University Collaborating on a project to improve the Genetype for Breast Cancer Test and on a joint project with Prof Emery to develop clinical utility evidence for the GeneType tests [insert revenue structure and agreement types] Product list Ohio State University Memorial Sloane Kettering Cancer Professor Jon Emery Professor of Primary Care Cancer Research at the University of Melbourne, and the Victorian Comprehensive Cancer Centre Collaborating on a joint project with Prof Hopper to develop clinical utility evidence for the GeneType tests [insert revenue structure and agreement types] Product list Collaborating on a project to investigate modification of risk in BRCA-positive patients by polygenic risk scores [insert revenue structure and agreement types] Product list Collaborating on a project to investigate modification of risk in BRCA-positive patients by polygenic risk scores
- 8. half-year ending December 31, 2021 Delivering Revenue and Growth $89 $6,789 $8,771 Full Year FY21 Full Year FY22 Full Year FY23 Cash Receipts (A$'000) Strategic & Operational Highlights: • Group receipts from customers A$8.8m to 30 June 2023, up 29%. • June Quarter FY23 receipts were A$2.1 million. • GeneType test growth +250% growth in commercial samples • 20 Medical practices in the U.S. and Australia now repeatedly referring samples for geneType testing – growing weekly CASH RECEIPTS FY23 A$8.8m +29% GROSS MARGIN A$4.2m GROSS MARGIN 47% 8 CASH BALANCE A$7.9m* *Jun 2023 Quarter end cash and cash equivalents of A$7.9 million as announced on ASX 28 July 2023 29% Growth on LY • Launched a National Television campaign in the U.S. for Genetype • Presented at The American Society of Clinic Oncologists (ASCO) in Chicago • Attended the Biotechnology Innovation Organisation (BIO) conference in Boston • Publications validating the use of geneType; identifying those at elevated risk • Melanoma, Pancreatic and Prostate Cancer
- 9. ESG UPDATE Q4 2023 Highlights Q4: • Board And Executive teams clearly defined vision and purpose • Introduced updated Maternity Leave Policy exceeding mandatory level, addressing Pay Equity • Conducted Cybersecurity Training, addressing Risks and Opportunities Focus areas for Q1 FY24 • Board Composition • Ethical Behaviour (policy review) • Code of conduct • Whistle Blower • Antibribery • Diversity & Inclusion • Culture and Engagement Survey Stakeholder Capitalism Metrics ESG Framework Genetic Technologies ASX:GTG ESG Focus Areas 9
- 10. Snapshot and Achievements last 12 months 10 ✓ FY23 Group Receipts A$8.8 million, up 29% ✓ GeneType risk test: +250% in commercial samples received in June quarter ✓ 9 Tests NOW commercially available in the US the geneType Multi-Risk test ✓ >100 medical practices on-boarded launching the foundation of geneType Hubs ✓ Launched U.S TV campaign ✓ Integrated 2 Acquisitions ✓ NEW EasyDNA Website ready for launch ✓ NEW eCommerce Platform ready to launch ✓ Launch Carrier Testing and Non-Invasive Prenatal Tests (NIPT) into Europe ✓ Launch DNA storage solution in GTG NATA approved facility ✓ Independently developed Budget Impact Model (BIM) identifies US$1.4 billion dollars in annual saving by ALVA 10 ✓ Active payer and distribution conversations ✓ Progress on US Payer meetings to enable coverage across millions of lives ✓ Partnerships with Australian Breast Care Centre and Dr Nicole Yap ✓ Screening for breast cancer risk with Prof Bruce Mann at Royal Women’s Hospital in Melbourne ✓ The American Society of Clinic Oncologists (ASCO) in Chicago ✓ Biotechnology Innovation Organisation (BIO) conference in Boston ✓ International Congress of Genomics (ICG) ✓ 6 Peer reviewed publication in 7 months ✓ Submitted geneType risk test to NCCN Guidelines ✓ Publications ✓ PLOS ONE ✓ Journal or Precision Medicine ✓ European Journal of Cancer prevention ✓ Journal Breast Cancer Research and Treatment ✓ 25 Patents granted or pending ✓ Gained NATA and CMS-CLIA accreditation and certification for 6 polygenic risk score tests ✓ Successful ARTG notification to TGA for company IVDs for all tests on the multi-risk test GeneType & Commercialisation EasyDNA & Affinity DNA Reimbursement activation Partnerships and Conferences Clinical Validity and IP Strategy Laboratory Capability
- 11. [insert revenue structure and agreement types] Product list [insert revenue structure and agreement types] Product list 11 Pathways to Market Executing a multi-brand strategy Direct to Consumer Testing (DTC) with no medical supervision Consumer initiated testing (CIT) with medical supervision Medical & Payer Business to Business (B2B) Oncology – GTG Cardiovascular Prenatal NIPT Carrier testing Clinical & Molecular Metabolic Expanded Carrier testing & NIPT Oncology – MultiTest Cardiovascular – MultiTest Metabolic – MultiTest COVID Risk Test Pharmacogenomics [insert revenue structure and agreement types] Product list Ancestry Paternity Health & Wellbeing Pharmacogenetics Animal Drug testing Relationship DNA Storage
- 12. [insert revenue structure and agreement types] Product list Our Innovation – Multi-Risk Test GeneType can identify patients ’at risk’ before onset and aid in the early detection and treatment. GeneType Risk assessment test for breast cancer has demonstrated improved early stage detection by 18% and saving approx. US$1.4B per annum4 for the US payer 12 Phase 1 Launch 2 GeneType Multi- test covers >70% of mortality & morbidity Phase 2 Launch 3 1. TGA, FDA and EU regulatory approval granted to the sponsor, DNA Genotek 2. Commercial availability expected Q1 CY2022 3. Commercial availability upon regulatory approval 4. Budget Impact Model prepared by Alva10 Breast Cancer Colorectal Cancer Prostate Cancer Melanoma Pancreatic Cancer Ovarian Cancer Oncology Cardiovascular Atrial Fibrillation Coronary Artery Disease Metabolic Type 2 Diabetes Diseases Areas Guideline driven, Actionable results
- 13. NEW Comprehensive Breast and Ovarian Cancer test Evaluates a woman’s risk of developing Breast and/or Ovarian Cancer in women 30 years+ • The test evaluates a women’s risk of developing Breast and/or Ovarian Cancer either from a hereditary genetic mutation or from the far more common familial or sporadic cancer. • GTG’s unique approach “appends” the detection of the 13 major “actionable” Breast and Ovarian cancer susceptibility genes to the GeneType test platform. • Advances the goal of providing population-based genetic screening where up to 85% of cancers diagnosed do not have hereditary or family history 1 https://www.breastcancer.org/facts-statistics Announcement - Globe Newswire 5% - Hereditary Cancer with known pathogenic variant BRCA1/2 85% - GeneType Patented integrated Breast and Ovarian Risk test 10% - Familial cancer with no known pathogenic variant 13
- 14. GeneType Identifies up to 9 Times More Cancer Risk Patients Compared to Existing SoC Models1 The paper, titled “Integrating Personalised Medicine into Preventative Care through Risk Stratification” Published in the Journal of Precision Medicine 1 https://www.thejournalofprecisionmedicine.com/wp-content/uploads/integrating-personalized-medicine-preventive-care.pdf 14
- 15. [insert revenue structure and agreement types] Product list [insert revenue structure and agreement types] Product list PHASE 1 Brand Re-Ignition DTC - Growth strategy for EasyDNA Brand Refresh Multi-brand Portfolio EasyDNA Brand Refresh Test Rationalization Website Refresh Website Development First-party data collection Targeted Messaging Improve User experience and engagement PHASE 2 Revenue and Growth Focus Improved Lead Gen Google Ads Facebook Ads Content & Email Marketing Influencer Marketing & Testimonials New Sales Channels Amazon store front Target B2B customer segments New Markets 15
- 16. Our Journey from Extensive R&D to Revenue and Profitability Pioneers in Genomics, participating in the very 1st International Human Genome. Investing more than 20 years in extensive R&D and Innovation Launched Patented Genetype Multi Risk Test covering 9 diseases and up to 70 annual Mortalities and Morbidities Acquired EasyDNA Global Direct to consumer genomics Acquired Affinity DNA Global Direct to consumer genomics Developed commercial Pathways for the whole portfolio Delivering revenues of AUD $6.8m year ending June 30 2022 Developing Building our the US and Australian B2B markets for GeneType Delivering revenues of AUD $8.9m* year ending June 30 2023 Our Pathway to profitability Executing on our 5 strategic Pillars People and Culture Whole of Life Portfolio Engaging our Stakeholders Salles and Marketing Excellence Systems and Processes Our Pathway to Profitability Research, Development and Innovation Commercialisation and Revenue Generation Pathway to Profitability 2000 - 2021 2021 2022 2023 2024 - 2025 *Cash Receipts – Unaudited accounts 16
- 17. Revenue Drivers and our Pathway to Profitability This excludes ANY NEW Markets e.g. India, SEA or UAE *Cash Flow positive will rely on the execution of a large payer group in the US within the next 12 months HBOC – Hereditary Breast and Ovarian Cancer Cashflow positive January 2025 Q1 FY24 Q2 FY24 Q3 FY24 Q4 FY24 Q1FY25 Q2 FY25 Easy DNA & AfinityDNA Genetype Multi Test & HBOC Prenatal Category B2B Distributor and Payer Launch HBOC Q4 FY2024 - BD, License Agreement or Payer - Coding strategy and payment June’24 - NCCN guideline pathway to inclusion Launch Small Pilot Q3 FY2024 Launch BD, License agreement or Payer Launch UNITY Q3 CY2024 Q4 CY2024 Cash Flow positive* 12 months worth of self funding cash Launch Epigenetics H1 FY2024 17
- 18. Summary • Developed a clear Vision and Strategy to be leader in personalised predictive genomics • Identified the Drivers of Revenue and pathway to profitability by the middle of FY25 • Strong momentum in commercial operations with +29% growth in customer receipts • We have a global operation, a comprehensive human and animal health portfolio • Engaged with leading global collaborations • Begun a journey with a strong commitment to ESG principals • Have a well-defined strategic plan to execute on a multi brand strategy in key regions 18
- 19. Thank you Investor Relations Adrian Mulcahy Market Eye – Automic Group M: +61 438 630 422 E: [email protected] 19 www.linkedin.com/company/genetype-limited www.genetype.com
- 20. Appendices 20
- 21. Dr. Lindsay Wakefield MBBS Non – Executive Director Mr. Peter Rubinstein BEc, LLB Chairman Non – Executive Director Dr. Jerzy “George” Muchnicki MBBS Non-Executive Director Mr Nick Burrows B.Comm, FAICD, FCA, FGIA, FTIA, F Fin Non – Executive Director Simon Morriss GAICD Chief Executive Officer Richard Allman BSc, PhD Scientific Advisor Tony Di Pietro B. Comm, CA, AGIA, MAICD CFO & Company Secretary Carl Stubbings Chief Commercial Officer Erika Spaeth PhD Director of Clinical & Scientific Affairs Board and Management: Sales and Scientific expertise leading GTG 21
- 22. Professor Jon Emery MBBCh MA DPhil FRACGP MRCGP Research & Education Lead, Primary Care Integration, Victorian Comprehensive Cancer Centre Herman Chair of Primary Care Cancer Research, University of Melbourne Professor Finlay Macrae AO MBBS, MD, FRACP, FRCP, AGAF MWGO is Principal Fellow and Professor, Department of Medicine, University of Melbourne, and Head of Colorectal Medicine and Genetics, The Royal Melbourne Hospital Ora K. Gordon, M.D. MD, MS, FACMG Regional Medical Director, Center for Clinical Genetics & Genomics. Clinical Director, PSJH Population Health Genomics Program. Chair, Integrated Network Cancer Program, Professor of Genetics, St John Cancer Institute Strong Scientific Leadership: Advisory Board A.Prof Ron Dick MBBS, FRACP, FCSANZ, Chairman of Cardiovascular Institute at Epworth Healthcare, an Honorary Cardiologist at the Alfred Hospital and Bendigo Healthcare Group. Completed his MBBS in 1979 and became a Fellow of the Australian College of Physicians in 1986. His interventional cardiology fellowship was from the University of Michigan Medical Centre USA. 22
- 23. • Net cash outflow of A$9.9 million for the 12 months to 30 June 2023. We continue to grow EasyDNA and Affinity DNA brand sales and develop and commercialise our geneType tests • Cash reserves will be directed: • to support the commercialisation of the GeneType Multi Risk test through the B2B channels with payers, insurers and employers in the United States and expand into Europe; • to drive new market opportunities in reimbursable categories by leveraging our strategic relationship with QIAGEN; • for funding product research and development; • to increase our sales and marketing presences and drive of its tests via the consumer-initiated testing platforms; • to execute the go to market, sales and marketing to launch the Comprehensive Hereditary Breast and Ovarian Cancer Risk Test as part of our germline genetic testing division; and • for other working capital and general corporate purposes. A$’000 30-June-23 30-June-22 Change Net operating cashflow (9,934) (5,955) 67% Receipts from customers 8,771 6,789 29% Cash 7,853 11,733 -33% 1 Based on cashflow projections 23 Financial Overview
- 24. BNY Mellon, 71% Board & Management , 5%, Other, 24% BNY Mellon Board & Management Other Top 50 share registry breakdown Financial Information Share price (AUD) as at 4 August 2023 0.2c ADR price (USD) as at 4 August 2023 $0.79 Ord Shares on Issue (M) 11,542 ASX 52-week trading (AUD low/high) 0.2/1.3c Nasdaq 52-week trading (USD low/high) 0.77/2.40 Market Cap (A$M/US$M) 28.9/19.1 Cash at 30 June 2023 A$7.9m Cash at 30 June 2022 A$11.7m Debt (30 June 2022 and 30 June 2023) nil Dual Listed on the ASX and Nasdaq Corporate Overview 24 Note - BNY is the nominee holder for ADS Shareholders in the US
- 25. 4 Patents granted in the US • Patent No: US 11,257,569, Methods of assessing risk of developing a severe response to Coronavirus infection • Patent No: US 11,072,830, Methods for breast cancer risk assessment • Patent No: US 10,683,549, Methods for assessing risk of developing breast cancer • Patent No: US 10,920,279, Methods for assessing risk of developing breast cancer 2 Patents granted in PRC (China & HK) • Patent No. 201080033130.5 Methods for Breast Cancer Risk Assessment • Patent No. 201580063966.2 Methods for assessing risk of developing breast cancer 9 Patent families pending • Breast cancer risk assessment • Methods for assessing risk of developing prostate cancer • Methods for assessing risk of developing ovarian cancer • Methods of assessing risk of developing a severe response to Coronavirus infection • Methods of assessing risk of developing a disease • Methods for assessing risk of developing breast cancer • Improved methods for assessing risk of developing breast cancer • Methods of assessing risk of developing breast cancer • Methods for assessing risk of developing colorectal cancer Our Intellectual Property 25 * Patents granted are specific to the GeneType portfolio of products
- 26. Defined Terms Common Complex Diseases (CCP) – A complex disease is caused by the interaction of multiple genes and environmental factors. Complex diseases are also called multifactorial. Examples of common complex diseases include cancer and heart disease. Polygenic risk score - a number associated with one’s disease risk based on the aggregated effects of individual risk variants through a multiplicative algorithm. Variant - Single Nucleotide polymorphism (SNP), an alteration in DNA that may be a common or rare event. Genomic - pertaining to function of genetics from structure to relationship between genetic events. Genetic - pertaining to a gene. GWAS - genome-wide association studies are large population level studies which enable scientists to identify genes and genetic markers involved in human disease. This method searches the genome for SNPs that occur more frequently in people with a particular disease than in people without the disease. Each study can look at hundreds or many thousands of SNPs at the same time. Researchers use data from this type of study to pinpoint genetic variations that may contribute to a person’s risk of developing a certain disease. SNP - Single nucleotide polymorphisms, frequently called SNPs (pronounced “snips”), are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA. Serious Disease Risk (SDR) - Risk associated with acquiring COVID-19 and requiring hospitalisation withs its associated morbidities and mortalities. Germline Testing – Germline testing is done on cells that do not have cancer. It is done to see if a person has a gene mutation that is known to increase the risk of developing cancers and other health problems. This test uses cells (such as blood or skin cells) that do not have any cancer cells. Germline mutations can sometimes be passed down from parents. Clinical Laboratory Improvement Amendments (CLIA) - Regulates laboratory testing and require clinical laboratories to be certified by the Center for Medicare and Medicaid Services (CMS) before they can accept human samples for diagnostic testing National Association of Testing Authorities (NATA) - the authority responsible for the accreditation of laboratories, inspection bodies, calibration services, producers of certified reference materials and proficiency testing scheme providers throughout Australia. It is also Australia's compliance monitoring authority for the OECD Principles of GLP. NATA provides independent assurance of technical competence through a proven network of best practice industry experts for customers who require confidence in the delivery of their products and services. Next Generation Sequencing (NGS) – Next-generation sequencing (NGS), also known as high-throughput sequencing, is the catch-all term used to describe a number of different modern sequencing technologies. These technologies allow for sequencing of DNA and RNA much more quickly and cheaply than the previously used Sanger sequencing, and as such revolutionised the study of genomics and molecular biology. Laboratory Developed Tests (LDT) – A type of in vitro diagnostic test that is designed, manufactured and used within a single laboratory. Consumer Initiated Tests (CIT) - laboratory testing that is initiated by the consumer without a physician order but reviewed and communicated back to the consumer via a physician. Direct to Consumer (DTC) – laboratory testing that is initiated by the consumer without a physician order. The results are reported back directly to the consumer. Health Care Professionals (HCP) – physician, GP, or specialist authorized to receive the patient results 26