Diagnostic Kits
- Authors: Carolina Rossini, Andrew Clearwater and Mackenzie Cowell
Field Definition
What are Genetic Diagnostics?
Definitions
We're interested in studying genetic diagnostics (GDx). GDx are clinical diagnostics based on the analysis of human DNA to determine genotype and corresponding health states, such as disease diagnosis, prognosis, recurrence, and differential drug response. (see SACGHS Patent report, pg 5).
GDx are often classified as molecular diagnostics (or esoteric tests), a category of relatively novel diagnostics based on biochemistry developed over the last 30 years. Molecular diagnostics analyze molecular components of the body, such DNA, RNA, proteins, and some small molecules. Importantly, while other standard diagnostics, such as immunochemistry tests, may in fact be based on molecular techniques, the are generally not classified as molecular diagnostics. Molecular diagnostics typically test for rare or unusual health conditions and are more sophisticated or involve increased complexity and human involvement than routine tests, although molecular tests are becoming more routine.
Molecular diagnostics are a kind of In-Vitro Diagnostic (IVD). (Other classes of IVDs are General/Clinical chemistry, Immunochemistry, Hematology/Cytology, Microbiology/Infectious Disease, & Molecular, Genomic, Proteomic, & Metabolomics).
Research Vocabulary
What's the market like?
Although market data is readily available for molecular / esoteric diagnostics, it usually is not broken into further sub-categories, making it difficult to find market information specifically for genetic tests.
Currently there are genetic tests clinically available for over 1574 diseases according to genetests.org.
The SACGHS Oversight report (pg 65) describes the two paths genetic diagnostics typically follow from the research bench to clinical practice: a complete in vitro diagnostic kit may be developed and sold commercially to multiple laboratories, or laboratories may develop and validate a test solely for use internally, often with the use of analyte-specific reagents; these tests are called laboratory-developed tests (LDTs). The two paths are subject to different regulatory requirements; generally, IVD kits are more stringently regulated by FDA, which considers kits as in vitro diagnostic devices and may require premarket review or approval.
Both types of diagnostic, IVDs and LDTs, must be analyzed in CLIA-certified labs. Clearing FDA premarket review or approval is generally much more resource-intensive than developing an LDT, so new discoveries are often find their way to market first as LDTs. A third kind of genetic diagnostic product has developed over the last decade: direct-to-consumer (DTC) genetic tests. Most are ignored clinically are are often derided by medical professionals as "recreational genomics." [1]
Who sells genetic diagnostics?
Where are genetic diagnostic products, be they IVDs, LDTs, or DTC tests, developed, produced, and used?
I don't have any solid archetypal examples of GDx development from the 3 categories, which is to say, I don't fully understand how basic research, often consisting of genotype-phenotype association studies, is turned into a new diagnostic product.
Who produces existing tests? As far as I can tell, there are two main national testing providers, which resell smaller company's IVDs as kits, produce their own IVD kits, and offer a variety of LDTs, as well as thousands of smaller CLIA-certified labs operating independently and in association with hospitals and doctors offices and offering a subset of the services.
The two largest national independent clinical laboratories, Quest Diagnostics and LabCorp, sold 2.78 billion worth of genetic & esoteric tests in 2008 (from annual reports; not clear if that revenue is from IVDs or LDTs or both).
The most prominent DTC companies operate their own CLIA-certified labs. Users purchase the test, use a sampling kit at home (often a buccal swab), and mail the sample kit to the DTC company's lab, which is where the test is conducted. Results are shared online or via a counselor retained by the company. Physicians are often not involved, unlike other GDx products.
So besides DTC products, which are used at home, in most cases samples are collected at a Doctor's office or at a hospital and then sent to an independent testing provider, either one of the two main reference lab or a smaller-CLIA lab.
The Development Pipeline
still working on this
References
- ↑ Medical vs. “Recreational” Genomics: Drawing a Line in the Sand - Genomics Law Report
Essay
Study of the field
Analysis of the field with basis on Field Research Methodology
- Overview of Economics of Intellectual Property in Kits
- Give an overall picture of the Kits' sector
- Outputs and Products of the field: data, narratives and tools produced by the Kits' sector
- Legal tools available for and in use by the actors of Kits' sector: IP in Kits
- competitive advantages in Kits
- IP Profile of Biggest for-profit companies in Kits
- IP Profile of non-profit companies in Kits
- IP Profile of Universities working in Kits
- IP Profile of Associations in Kits
- Commons based cases in Kits
- Peer-Production Business models in Kits
- Open Business models in Kits
The Paper
Bibliography
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Blogs
Business Association' Publications
- The Economic Impact of Licensed Commercialized Inventions Originating in University Research, 1996-2007, Biotechnology Industry Organization (BIO) Available at http://www.bio.org/ip/techtransfer/BIO_final_report_9_3_09_rev_2.pdf.
Civil Society Organizations Publications
- American Civil Liberties Union : BRCA: Genes and Patents. Available at: http://www.aclu.org/freespeech/gen/39556res20090512.html [Accessed August 5, 2009].
Declarations and Manifestos
Governmental Resources and Reports
- Australian Law Reform Commission. Genes and ingenuity: gene patenting and human health report. (2004) pp. 678. Available at http://www.austlii.edu.au/au/other/alrc/publications/reports/99/. Accessed 27 Jan 2010
- Ayme et al. Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics. European Journal of Human Genetics (2008) vol. 16 Suppl 1 pp. S10-9
- National Institutes of Health (NIH), Public Health Service, DHHS, NIH Principles and Guidelines for Sharing of Biomedical Resources -- Final (December 1999) Available at: http://www.ott.nih.gov/policy/research_tool.aspx
- National Research Council of the National Academies â Committee on Intellectual Property Rights in Genomic and Protein Research and Innovation. Reaping the benefits of genomic and proteomic research: intellectual property rights, innovation, and public health. Washington (DC): The National Academies Press; 2005. Available from http://www.nap.edu/catalog/11487.html, Also Available from: http://books.google.com/books?id=crZWVfYNmtgC&lpg=PP1&ots=jaiZTMGZOU&dq=Reaping%20the%20Benefits%20of%20Genomic%20and%20Proteomic%20Research%3A%20Intellectual%20Property%20Rights%2C%20Innovation%2C%20and%20Public%20Health&pg=PP1#v=onepage&q=&f=false
- Secretary's Advisory Committee on Genetics, Health, and SocietyâPublic Consultation Draft Report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests (Draft Report for Public Comment) [excerpts]. Biotechnology Law Report, 28(3), 417-442 (2009). Available at: http://oba.od.nih.gov/SACGHS/sacghs_documents.html#GHSDOC_011
- *Secretary's Advisory Committee on Genetics, Health, and SocietyâPublic Consultation Final Draft Report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests - September 17, 2009
- *Secretary's Advisory Committee on Genetics, Health, and SocietyâPublic Consultation Draft Report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests - Appendix 1: Compendium of Case Studies on the Impact of Gene Patents and Licensing Practices on Access to Genetic Testing. (2009) Available at: http://oba.od.nih.gov/SACGHS/sacghs_documents.html#GHSDOC_011.
- *Secretary’s Advisory Committee on Genetics, Health, and Society, U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services, April 2008. Available at: http://oba.od.nih.gov/oba/SACGHS/reports/SACGHS_oversight_report.pdf [Accessed July 8, 2009].
Market Reports
Newspapers and Opinions
Databases and Statistics and Patents
- DPD: DNA Patent Database. Available at: http://dnapatents.georgetown.edu/ [Accessed August 10, 2009].
- World Patent Report: A Statistical Review 2008 Available at: http://www.wipo.int/ipstats/en/statistics/patents/wipo_pub_931.html
Interviews
Completed
Recommended
- [Jordan Paradise] at Seton Hall Law
- [Korobkin] at UCLA
Upcoming?
- Jason Bobe
- Dr. Joe Thakuria
Blogs And News
News
- GEN- Genetic Engineering & Biotechnology News: Clinical Research & Diagnostics Channel (http://www.genengnews.com/transmed/)
- Content includes News, Articles, Tutorials, & Conferences/Meetings
- PGx News - Information Portal for Pharmacogenomics (http://www.pgxnews.org/web/)
- Pharmacogenomics news, updated daily
Blogs
- Genomics Law Report (http://www.genomicslawreport.com/)
- "News and analysis from the intersection of genomics, personalized medicine and the law"
- NCI’s New BRCA1 Test: Broader Utility and Another Challenge to Traditional Genetic Tests
- Is the ACCP’s Call for Greater Governmental Regulation of DTC Genetics Premature?
- Patent Docs (http://www.patentdocs.org/)
- "Biotech & Pharma Patent Law & News Blog"
- Supreme Court Bilski Argument
- Holman's Biotech IP Blog (http://holmansbiotechipblog.blogspot.com/)
- "University of Missouri-Kansas City School of Law Professor's analysis and commentary on the intersection of biotechnology and intellectual property.
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