Diagnostic Kits/Genetic Diagnostics in Brief

What are Genetic Diagnostics?

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).

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."

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

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