Wrangling the last bits of sequence fromthe human genome could provide a fewsurprises—enough to drive research intosome tricky territory beyond the originalgoals of the Human Genome Project. Forpeople who work on duplicated and unsta-ble regions of the genome, for instance,work has just begun.

“A few fools go into these regions, andwe are among them,” says Evan Eichler, as-sistant professor of genetics at CaseWestern Reserve University. Eichler’sgroup painstakingly catalogs duplicated se-quences in the genome and places them inthe correct positions. Because duplicatedregions are particularly susceptible tobreaks and rearrangements during recom-bination, they underlie many human ge-netic diseases and may even driveevolution, Eichler says. They are also thesource of many of the missed and mis-placed genes in both the Celera and pub-licly-funded sequences.

The Human Genome Project aimed tosequence at least 95% of each chromo-some—excluding centromeric heterochro-

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matin—with all gaps sized, oriented andannotated. The sequenced regions were tobe 99.99% accurate at the nucleotide level.On 14 April, leaders of the project are ex-pected to announce that they haveachieved that aim.

The stated goals have most likely beenmet, says Huntington Willard, past presi-dent of the American Society of HumanGenetics. But “it would be a shame if theywere to say they are done, full stop,” hesays. Willard, who plans to sequence hete-rochromatic regions, says it is critical thatresearchers continue trying to accuratelyplace duplicated regions on the genome.

“This is heavy lifting but the payout willbe fascinating and likely important,” saysWillard. “It’s worth it from any number ofperspectives—philosophically, evolution-arily and medically.”

Duplicated regions, which can exceed400 kb, account for half of the known gapsin the sequence, says Eichler, and either getpinned to the wrong place or dropped offthe map entirely. That’s particularly prob-lematic when a duplicated region is larger

than a bacterial artificial chromosome, thesequencing unit for genome projects.

It is difficult to determine precisely howmany duplicated regions are missing, saysJulie Korenberg, professor of genetics atthe University of California in LosAngeles. At the American Society forHuman Genetics annual meeting last fall,Korenberg estimated that 47% of 580 bac-terial artificial chromosomes with knownduplications contained sequences thatwere either missing or misassembled inthe publicly funded genome sequence.That number has dropped to below 20%so the data are improving, she now says.Similar problems afflict the Celera se-quence, she adds.

Duplicated regions are enriched forgenes with roles in immunity and develop-ment. They may also underlie some of thevariability in the human population’s sus-ceptibility to disease. “If you are the sortwho says you look for treasure under thelight,” says Willard, “then this is where youshould be shining the light.”

Charlotte Schubert, New York

‘Fools’ rush in where genome giants fear to tread

To promote India as a global health des-tination, the Indian government has an-nounced in its annual federal budget aseries of new tax concessions and incen-tives for private investment.

The new scheme, announced 28February, aims to boost investment fromforeign pharmaceutical companies andprojects India as an attractive place fordrug research and clinical trials. Thebudget for domestic biomedical re-search, however, is at Rs 9.8 billion—upjust 1% from last year.

The announcement was greeted withcheers from the pharmaceutical sector.“For the first time, pharmaceutical andbiotech industry are treated at par withthe much-pampered information tech-nology,” says Khalil Ahmed, director ofHyderabad-based Shantha Biotech. “It isa clear recognition of health care sectoras a knowledge-based industry withgreat export potential.”

The new budget includes Rs 1.5 billionto allow Indian companies to developoriginal drugs. Copying foreign drugs—which Indian companies are famous fordoing—will be outlawed by a newpatent plan effective in 2005. The gov-ernment will not tax royalties earned bydrug companies and will waive excise

and customs duties on life-saving drugs.International companies like Novartis,GlaxoSmithKline and Pfizer and Indianbiotechs like Ranbaxy will all benefitfrom a cut in customs duties on bulkdrugs.

Most important, drugs and materialsimported for clinical trials will not betaxed. “This will enable India to becomemore competitive as a center for clinicaltrials,” says Kewal Handa, finance direc-tor of Pfizer’s Indian operations.

As a result of all these measures, pricesof vaccines, drugs and diagnostics arebound to fall. One company has alreadyannounced a 16% cut in the price of itsanticancer drugs and a 10% cut in theprice of glucometers. Boston Scientific,the largest equipment supplier to Indianhospitals, has also proposed a downwardrevision of prices.

Lack of funding has thus far been thebiggest obstacle to the growth of privatehospitals. The government eliminated

this constraint by extending tax benefitsto investors in private hospitals with100 beds or more. It also reduced the im-port duty on life-saving equipment from25% to 5% to encourage hospitals to im-port the latest equipment.

The private sector already accounts forabout 70% of India’s health care servicesmarket and the latest incentive will fur-ther fuel the growth, says Pratap Reddy,chairman of the private Apollo hospitals.“This budget will definitely see domesticinvestments of Rs 25 billion to Rs 50 bil-lion in health care and foreign direct in-vestments in billions of dollars,” he said.“It is a signal to foreign investors that weare now open for business.”

Health care costs in India are aboutone-tenth of those in the US or the UK,says Reddy, whose Apollo hospitals al-ready have patients from west Asia andAfrica. The average cost of a cardiacsurgery at the best hospital in India isonly $4500, with a success rate of 98.5%.A single tooth filing costs $10 against$300 in the US. With its technology,skilled specialists, sound infrastructureand paramedical staff, Reddy says,“India can become a global health caredestination.”

K.S. Jayaraman, New Delhi

India sets its sights on global health care market

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