Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease

Alessandra Colaianni, Subhashini Chandrasekharan, Robert Cook-Deegan

Research output: Contribution to journalReview article

14 Citations (Scopus)

Abstract

Genetic testing for Tay-Sachs and Canavan disease is particularly important for Ashkenazi Jews, because both conditions are more frequent in that population. This comparative case study was possible because of different patenting and licensing practices. The role of DNA testing differs between Tay-Sachs and Canavan diseases. The first-line screening test for Tay-Sachs remains an enzyme activity test rather than genotyping. Genotyping is used for preimplantation diagnosis and confirmatory testing. In contrast, DNA-based testing is the basis for Canavan screening and diagnosis. The HEXA gene for Tay-Sachs was cloned at the National Institutes of Health, and the gene was patented but has not been licensed. The ASPA gene for Canavan disease was cloned and patented by Miami Children's Hospital. Miami Children's Hospital did not inform family members and patient groups that had contributed to the gene discovery that it was applying for a patent, and pursued restrictive licensing practices when a patent issued in 1997. This led to intense controversy, litigation, and a sealed, nonpublic 2003 settlement that apparently allowed for nonexclusive licensing. A survey of laboratories revealed a possible price premium for ASPA testing, with per-unit costs higher than for other genetic tests in the Secretary's Advisory Committee on Genetics, Health, and Society case studies. The main conclusion from comparing genetic testing for Tay-Sachs and Canavan diseases, however, is that patenting and licensing conducted without communication with patients and advocates cause mistrust and can lead to controversy and litigation, a negative model to contrast with the positive model of patenting and licensing for genetic testing of cystic fibrosis.

Original languageEnglish (US)
JournalGenetics in Medicine
Volume12
Issue number4 SUPPL.
DOIs
StatePublished - Apr 2010
Externally publishedYes

Fingerprint

Canavan Disease
Tay-Sachs Disease
Patents
Genetic Testing
Licensure
Heterozygote
Genes
Jurisprudence
Preimplantation Diagnosis
Jews
DNA
National Institutes of Health (U.S.)
Genetic Association Studies
Advisory Committees
Cystic Fibrosis
Communication
Costs and Cost Analysis
Health
Enzymes
Population

Keywords

  • Canavan disease
  • Genetic testing
  • Intellectual property
  • Patents
  • Patient advocacy
  • Tay-Sachs disease

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease. / Colaianni, Alessandra; Chandrasekharan, Subhashini; Cook-Deegan, Robert.

In: Genetics in Medicine, Vol. 12, No. 4 SUPPL., 04.2010.

Research output: Contribution to journalReview article

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