Diagnostic Kits/Data, narratives and tools produced by the Kits' sector

NOTE: Also see Commons based cases in Kits

Genetic Diagnostic Case Studies

The following are summaries of IP and commercialization information of commercially available diagnostic kits. A subset of this list will be developed into more extensive case studies. The old spreadsheet form of this information is available here.

Breast and Ovarian Cancer

SACGHS Pipeline:

• Basic and Clinical Research
• Development
• Commercialization
• Communication/Marketing
• Adoption by Clinical Providers and Testing Laboratories
• Adoption by Third-Party Payers
• Consumer Utilization

Important Points from the SACGHS review:

• Myriad has not enforced its patents against researchers (SACGHS Appendix 1, A-2)
• Myriad has not enforced patents for services it does not provide (SACGHS Appendix 1, A-4)
• Data shows little price effect of the BRCA patents (SACGHS Appendix 1, A-4)
• "It is therefore difficult to attribute reduced access to BRCA testing to patents. We cannot exclude the possibility that patent holder’s investments in education about hereditary breast and ovarian cancer (HBOC) and testing have actually had the opposite effect of increasing access to testing" (SACGHS Appendix 1, A-7)

BRCA1

At a glance:

Gene	BRCA1
Patent Holders	Myriad Genetics
Key Patents	5753441, 6051379
Other Patents
Licenses	exclusive
US Test providers	1
Test	BRACAnalysis ($3120) - includes BRCA1 & BRCA2
Test cost	$3120

BRCA2

At a glance:

Gene	BRCA2
Patent Holders	Myriad Genetics
Key Patents	5753441, 6051379
Other Patents
Licenses	exclusive
US Test providers	1
Test	BRACAnalysis ($3120) - includes BRCA1 & BRCA2
Test cost	$3120

colorectal cancer (HNPCC)

MLH1

Used to diagnose colorectal cancer (HNPCC)

snpedia

At a glance:

Gene	MLH1
Patent Holders & Licensing	Oregon Health Sciences University + Dana Farber; Johns Hopkins
US Test providers	Baylor, Boston University, City of Hope, Harvard, Huntington, Mayo Clinic, University of Pennsylvania, Quest, Myriad, (9)
Key Patents	5922855, 5591826 (protein), 5693470
Other Patents
Licenses	?
Test
Test cost	Myriad, MLH1 + MSH2 + MSH6: $2950; see (ref2 pA-12) for more prices

• notes

this is a template entry

MSH2

Used to diagnose...

snpedia

At a glance:

Gene
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test
Test cost

• notes

this is a template entry

MSH6

Used to diagnose...

snpedia

At a glance:

Gene
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test
Test cost

• notes

this is a template entry

colorectal cancer (FAP)

APC

Used to diagnose...

snpedia

At a glance:

Gene
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test
Test cost

• notes

this is a template entry

MYH

Used to diagnose...

snpedia

At a glance:

Gene
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test
Test cost

• notes

this is a template entry

Alzheimer's Disease

Important Points from the SACGHS review: (Keep in mind that in this case study this is Duke writing about some of their own patents)

• "An argument can be made that patents were part of the mix of motivations that spurred innovation in Alzheimer’s research." (SACGHS Appendix 1, B-14)
• "At least in the initial period of discovery, the patenting landscape encouraged research, or at least did not dramatically hinder it." (SACGHS Appendix 1, B-14)
• Athena Diagnostics controls the testing market in this area due to patents. The positive and negative effects of this are not clear. (SACGHS Appendix 1, B-15)
• Palombi presents anecdotal evidence that a patent thicket is forming around Alzheimer's research and preventing commercialization of diagnostics and treatments (Palombi p.25).

APOE

Used to diagnose Late Onset Alzheimer's Disease (LOAD, AD2)

http://snpedia.com/index.php/Alzheimer's_disease

At a glance:

Gene	APOE
Patent Holders & Licensing	Duke university -> Athena Diagnostics
US Test providers	Athena Diagnostics* (1)
Key Patents	5508167, 5716828, 6027896
Other Patents
Licenses	exclusive
Test	ADmark® ApoE Genotype Analysis & Interpretation - Symptomatic
Test cost	$475

• patent details

  2 method patents for Diagnosing Alzheimer’s that don’t claim sequence; Bilski outcome could destabilize. One patent claims a kit. see ref2 pB-6 for more details.

• effects of patents

  Cook-Deegan notes “penumbra effect” with regard to Athena Diagnosics. Athena sublicensed APOE for Direct-to-consumer (DTC) testing to Smart Genetics, but the first inventor on the patent raised licensing complaints for ethical reasons (ref2 pB-16). APOE also is a marker for cardiovascular disease; testing for which does not infringe the methods patents, see ref2 pB-8. Also 2 testing labs in Canada, McGill and Sunnybrook both offer APOE testing for AD for $100 & $120 respectively ref2 pB-8.

PSEN1

Used to diagnose early-onset Alzheimer's Disease (EOAD, AD3)

snpedia

At a glance:

Gene	PSEN1
Patent Holders & Licensing	Hospital for Sick Children, U Toronto -> Athena
US Test providers	Athena Diagnostics (1)
Key Patents	6194153
Other Patents	5986054, 6531586, 6248555 (dropped)
Licenses	exclusive
Test	ADmark® PS-1 DNA Sequencing Test
Test cost	$1675 (ref2 pB-15)

PSEN2

Used to diagnose early-onset Alzheimer's Disease (EOAD, AD4)

snpedia

At a glance:

Gene	PSEN2
Patent Holders & Licensing	Hospital for Sick Children -> Athena
US Test providers	Athena Diagnostics (1)
Key Patents	5840540
Other Patents	5840540
Licenses	exclusive
Test	ADmark® PS-2 DNA Sequencing Test
Test cost	$1500?

APP

Used to diagnose early-onset Alzheimer's Disease (EOAD, AD1)

snpedia

At a glance:

Gene	APP
Patent Holders & Licensing	Hospital for Sick Children -> Athena
US Test providers	Athena Diagnostics, Signature Genomics (2)
Key Patents	?
Other Patents
Licenses	?
Test	ADmark® APP DNA Sequencing/Duplication Test; SignatureFISH
Test cost	$1500?

• notes

Signature genomics provides a FISH-based test for APP; only Athena does complete sequencing

Haemochromatosis

HFE

Used to diagnose Haemochromatosis

snpedia

At a glance:

Gene	HFE
Patent Holders & Licensing	Bio-Rad
US Test providers
Key Patents	?
Other Patents
Licenses	?
Test	mDx Hereditary Hemochromatosis ASR kit; mDx Hereditary Hemochromatosis LLA ASR
Test cost

• notes

Merz JF, Kriss AG, Leonard DGB, Cho MK. Op. cit. Examine licensing activities around HFE and impact on diagnostic prices (Merz, J.F. et al., 2002. Diagnostic testing fails the test. Nature, 415(6872), 577-579.(Garcia & Shimizu 1997) Available at: http://repository.upenn.edu/bioethics_papers/48/ [Accessed August 5, 2009].)

"Patents exist on the HFE gene, its related protein, genetic screening test methods, and related testing kits." (E-2)

"HFE patents do not appear to have blocked commercial development of additional methods of HFE testing utilizing different platform technologies."(E-4)

Cystic Fibrosis

CFTR

Used to diagnose Cystic Fibrosis

snpedia

At a glance:

Gene	CFTR
Patent Holders & Licensing	University of Michigan, Hospital for Sick Children
US Test providers	Many (112)
Key Patents	5776677
Other Patents	5876974, 7118911, 6984487, 6730777, 5407796
Licenses	non-exclusive
Test	ADmark® APP DNA Sequencing/Duplication Test; SignatureFISH
Test cost	$1500?

• notes

Johns Hopkins also has some key CFTR patents.

The licensing of Cystic Fibrosis IP has been non-exclusive and broad and has resulted in a myriad variety of diagnostics. (or is the demand for CF Dx greater than other diseases?)

Spinocerebellar Ataxia

gene

Used to diagnose Spinocerebellar Ataxia.

snpedia

At a glance:

Gene
Patent Holders & Licensing	Athena Diagnostics
US Test providers
Key Patents
Other Patents
Licenses	exclusive
Test
Test cost

• notes

Tay-Sachs Disease

gene

Used to diagnose Tay-Sachs Disease.

snpedia

At a glance:

Gene
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test
Test cost

• notes

Canavan Disease

gene

Used to diagnose Canavan Disease.

snpedia

At a glance:

Gene
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test
Test cost

• notes

Coumadin (Warfarin) sensitivity

CYP2C9

Used to predict sensitivity to Coumadin (Warfarin).

snpedia

At a glance:

Gene	CYP2C9
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test	Nanosphere Verigene Warfarin Metabolism Nucleic Acid Test
Test cost

• notes

VKORC1

Used to predict sensitivity to Coumadin (Warfarin).

snpedia

At a glance:

Gene	VKORC1
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test
Test cost

• notes

Sprycel (dasatinib) sensitivity

BCR-ABL

Used to predict sensitivity to Sprycel (dasatinib)

snpedia

At a glance:

Gene	BCR-ABL
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test
Test cost

• notes

http://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?id=11215

disease

gene

Used to diagnose...

snpedia

At a glance:

Gene
Patent Holders & Licensing
US Test providers
Key Patents
Other Patents
Licenses
Test
Test cost

• notes

this is a template entry

References

Main Page Diagnostic_Kits