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TRENDSPOTTER: When What You Know Can Kill You

THE 1997 film Gattaca depicts a future in which a diagnostic test taken seconds after birth determines a person's biological destiny. The protagonist grows up knowing he is expected to live only 30 years, due to his 99 percent chance for developing a heart condition. But rather than using gene-based medicine to treat this and other flaws of human reproduction, society has adopted a practice of embryonic engineering, resulting in a new breed of genetically enhanced humans - called - valids - and has chosen to relegate the "fate-based children" or invalids to the lower rungs of society.

While this scenario made a good sci-fi flick just four years ago, today it's actually entering the realm of possibility. Nearly every day now, announcements are made regarding new efforts to transform the growing body of knowledge about SNPs, genes, and proteins into clinical diagnostic tests.

Last month, Applera formally announced the formation of Celera Diagnostics, a long-discussed joint venture between its two companies Celera and Applied Biosystems, to form genomic-based diagnostic tools. The initiative will use Celera's treasure trove of genomic data as well as data from a new proteomics project, in which Celera is identifying gene-protein-disease pathways, starting with those surrounding lung, breast, colon, and pancreatic cancer.

Then in early May, IBM announced it was collaborating with Emory University and biotech company NuTec Sciences to develop a genomic screen that would help individualize treatment for cancer patients. The screen, to be tested at Emory'' s Winship Cancer Institute in Atlanta, is to employ NuTec''s GenesysSi gene searching and analysis computer software and run on IBM equipment. NuTec and IBM then hope to market this diagnostic software program to other hospitals.

The same week this collaboration was announced, Motorola's recently acquired gene-based diagnostic subsidiary Clinical MicroSensors sent out a press release that it had successfully tested eSensor, a prototype automatic gene testing kit, at a UCLA hospital doing hemachromatosis tests. Motorola has previously said it hopes to use microarray technology "matrices of DNA strands on a chip" to develop a hand-held DNA diagnostic device that would be the genomic equivalent of a cell phone. Nicholas Naclerio, Motorola Biochips vice president, has estimated this dial-up DNA device could be on the market by the end of the decade, if not sooner.

And this week, researchers at Nippon Medical School in Tokyo announced a collaboration with Genometrix to use the company's genotyping technology to find osteoporosis-related SNPs in a population of Japanese patients and develop microarray-based diagnostics using Genometrix''s microarrays. 

These announcements represent only a fraction of the gene-based diagnostic news to roll off the presses in recent months. The likely result of this activity is that the genomics sector will produce a number of marketable gene-based diagnostic products more quickly than the pharmaceutical companies can develop therapeutics.

It now takes pharmaceutical companies over a decade and on average between $500 and $800 million to take a drug from discovery to market. While genomics and high-throughput screening are already making the search for drug targets faster and more prolific, yielding thousands of new targets compared to the 500 targets the companies have had to work with up until now, it is not clear that the drug discovery and development process will be expedited by genomics. A report released by Lehman Brothers and Mackenzie & Co. back in January indicated, in fact, that genomics is likely to raise the cost of drug development through 2005 to as much as $1.6 billion per market viable drug and even slow down the drug development pipeline in the short term.

Additionally, the report pointed out that the longest part of drug discovery and development often occurs during the development phase, when companies need to do clinical trials and jump through FDA approval hoops. While some in the biotech and genomics community would like to see FDA processes for drug approval streamlined, Edward Basile, a former FDA official, said in a recent interview with GenomeWeb, that the FDA would hesitate to change any of its laws to get products to market more quickly it these changes resulted in lower standards.

Unlike therapeutics, diagnostic tools, gene-based or otherwise, do not need to go through the same lengthy procedure required for drugs. Manufacturers can submit them for premarket approval as Class III medical devices, a process that can take as little as 180 days if manufacturers can show the diagnostics are safe and effective.

So does this mean we will soon see a world in which there is a gene, or protein-based diagnostic tool for every possible ill, but few cures?  This is already the situation for single-gene diseases such as Huntington's disease, cystic fibrosis, and hereditary breast cancer. With these diseases, patients, doctors, and genetic counselors have to negotiate a hairy ethical and personal space.

Some have decided that is worth risking knowing that a patient is genetically destined for a certain disease, if you have a good chance of finding out that you do not carry the gene for the disease allele. But others, especially those faced with the BRCA1 and BRCA2 breast cancer gene tests, which can tell a patient she has a 30 to 80 percent chance of developing breast cancer, have chosen not to find out if they are carriers.

In the near future, the availability of additional diagnostics could widen the array of diseases for which this situation exists, and further complicate matters by providing less definitive information. For example, while a Huntington''s test is almost always predictive of the disease, a future SNP-based multi-gene expression test for heart disease or a common cancer might be more like the BRCA test, telling a person he or she has a 30 to 50 percent chance of developing some condition. If there is no pre-symptomatic treatment available, then what is a person to do?

This flood of gene-based diagnostics, however, is unlikely to result in a Gattaca-like scenario over the long term. It simply does not make sense under the current capitalist health care system. Those people in our society who have the largest amount of disposable income for health care - the 77 million - baby boomers- between ages 36 and 57 and those slightly older - will provide a monster market for gene-based therapeutics. They are unlikely to be satisfied with a battery of diagnostics, and could even lobby for more drugs as HIV, AIDS, and breast cancer patients have in the past two decades. And with pharmaceutical and biotechnology companies spending over $35 billion on R&D, according to the Lehman/MacKenzie report, the promised new-era of gene-based medicines is likely to materialize within a decade or so.

In the mean time, the availability of diagnostics without treatment is likely to provide some interesting times for modern medicine.

Marian Moser Jones is editor of BioArray News, GenomeWeb's latest newsletter, which will be launched June 1. You can e-mail her at   [email protected]  . 

Trendspotter is a weekly column that focuses on how trends in politics, patent law, and the US and European markets will affect the genomics industry. The column appears every Friday. Next week Rochelle K. Seide, a lawyer and IP specialist with Baker Botts, will discuss patent law''s implications for researchers. Gunnar Weikert, whose column was scheduled to appear today, will return next month.

To access previous columns just enter the word "Trendspotter" in the archive search window on the homepage.         

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