Skip to main content
Premium Trial:

Request an Annual Quote

Top 05 Challenges: Reimbursement, Regulations


For all the successes of pharmacogenomics in 2004, it remains clear that the field still has significant barriers to overcome before it becomes more widely available or applicable. Some key events worth watching in 2005:

Among the bridges that pharmacogenomics must cross, reimbursement looms large. Ultimately, the question of whether the technologies work is secondary to whether insurers will pay for them. The hope is that payors will welcome molecular diagnostics if the tools can help identify responders and non-responders, as well as patients who may experience adverse reaction, which could lead to expensive countermeasures. In addition, if a drug maker uses a molecular diagnostic to show the efficacy of its own pharmaceutical over a competitor’s, insurers may view the combination of products favorably, and reimburse both.

The FDA’s draft guidance for voluntary pharmacogenomic data submissions, released in November 2003 but debated broadly in 2004, could be another catalyst for pharmacogenomics growth. During the guidance’s comment period, which ended in February 2004, the industry voiced concern that the voluntarily submitted microarray data had the potential to be used by the FDA in regulatory drug approval decisions. According to comments last November from Larry Lesko, director of the office of clinical pharmacology and biopharmaceutics at the FDA’s Center for Drug Evaluation and Research, the guidance was finished in October but awaited approval from members of some of the FDA’s centers.

Another eagerly awaited — and also delayed — FDA publication is the draft guidance for diagnostic-therapeutic companion products. The “theranostics” draft guidance is intended to create a system under which pharmaceutical companies and diagnostics makers can develop targeted therapeutics simultaneously with products that will help physicians stage and monitor diseases, tighten prognoses, and more effectively choose drugs and doses.

— Chris Womack


US Patent 6,846,622. Tagged epitope protein transposable element. Assignee: Oregon Health & Science University. Inventors: Fred Heffron, David Parker, Dolph Ellefson. Issued: January 25, 2005.

This patent includes a transposable element with a 3’ and a 5’ end, and methods to detect the antigenic epitope of a pathogen, generate “a carrier vaccine by infecting a bacterial cell with the transposable element,” according to the abstract.


US Patent 6,844,432. Polymorphic DNAs and their use for diagnosis of susceptibility to panic disorder. Assignee: RIKEN. Inventors: Takeo Yoshikawa, Eiji Hattori. Issued: January 18, 2005.

The patent covers a means to diagnose panic disorder based on a polymorphism in the human cholecystokinin gene, according to the abstract. The DNA sequence goes by this general formula: “5’(GGAA).sub.n1 X(GGAG).sub.n2 (GGAA).sub.n3 (GGGA).sub.n4 GAG(AGAC).sub.n5 Y(GGAA).sub.n6 3’ (1) wherein X denotes a DNA sequence of SEQ ID NO: 1, Y denotes a DNA sequence of SEQ ID NO:2 and each of n1, n2, n3, n4, n5 and n6 denotes independently 0 or a positive integral number, whereby said DNA ranging from 363 to 399 base pairs in length.”



50 percent

Raise in annual fee paid to non-employee directors at Affymetrix, from $20,000 a year to $30,000


IntegraGen has joined the DiOgenes project, a consortium of 30 European research organizations aimed at studying the genetics of obesity. The consortium was recently awarded €14.5 million by the EU’s Sixth Framework. The ultimate goal of the research is to develop personalized diet regimens.


Genaissance Pharmaceuticals has exclusively licensed the commercial rights to a polymorphism-screening patent held by Vanderbilt University that the company expects will expand its ability to provide genetic tests for variants of cardiac ion-channel proteins involved in drug-induced cardiac arrhythmias. The patent, US 6,458,542, covers the screening of patients for susceptibility to these by testing for a common polymorphism.


Researchers at Vanderbilt University Medical Center will use First Genetic Trust’s genetic data management system to study side effects of drugs. The system allows Vandy researchers to enroll patients referred by other clinicians electronically, and will be used to manage online informed consent, samples, and clinical and genetic data.


A group of eight European research organizations won €8.1 million from the EU to study the genetics of addiction using human population genetics and gene expression studies. DeCode Genetics will handle the human genetics component.


The Scan

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.

SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource.

Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study

Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages.

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.