By David Weisbrot
A COUPLE of million years in the making, the human genome had its coming-out party only a decade ago.
On 26 June 2000, US president Bill Clinton and British prime minister Tony Blair hosted a high-profile media event with leading geneticists Francis Collins and Craig Venter to mark a stunning milestone in the Human Genome Project: the completion of a "draft" sequence of the three billion biochemical letters that spell out the human DNA code.
In the decade since, genetic technology has developed at an astonishing pace, as shown by the rapidly declining cost of sequencing, lining up the biochemical letters of a genome. It cost HGP $US3.2 billion to produce the first human gene sequence. Last year labs offered individuals the opportunity to obtain their own genetic codes for about $300,000. Next year the cost will be about $5000 and by 2012, $500. Scientists predict that within a decade, an individual's complete genetic code will be available for about the cost of a routine blood test.
Not long after Clinton congratulated HGP scientists, a Canadian report discussed the day when all medicine will be genetic medicine offering personalised ways to prevent, diagnose, treat and cure disease.
While genetic data sets are being generated at an exponential rate, the reality is that it's proving far more difficult than imagined to translate this knowledge into improved clinical practice and concrete benefits for patients.
Most common diseases such as cancers involve complex interactions among multiple genes, as well as between those genes and environmental factors.
It's now clear that the 98 per cent of human DNA once dismissed as junk plays a critical role in regulating gene expression.
And recent "epigenetic" research reveals that subtle responses to environmental factors that don't alter the DNA sequence can play a significant role in gene expression and human health.
This isn't to suggest little of practical medical value has emerged. For instance, about 10 per cent of approved drugs now contain labels providing pharmacogenomic information. This allows doctors to vary doses to suit an individual's genetic make-up, improving patient outcomes while reducing costs, complications and hospital admissions.
Drugs have been designed to target genes and gene products that cause or promote diseases such as cancers. And genetic tests have replaced invasive biopsies for disorders such as haemochromatosis.
Along with this great promise, however, the flood of new and often poorly understood genetic information poses ethical, legal and social dilemmas.
If a person undergoes genetic testing for health and medical purposes, or volunteers blood or tissue for scientific research, can the resulting data be obtained by police, private investigators, government officials, employers, family members, or a paramour considering a paternity suit?
There are obvious economic incentives for employers to reduce sick leave and workers compensation payments. Should they be allowed to require genetic tests of employees?
Should insurers have access to the genetic test information of an applicant for underwriting purposes, given that risk assessment is central to their business?
Should officials be able to demand DNA samples from individuals seeking to migrate to Australia under the family reunion program, as France now does?
Does DNA play any role in determining ethnic, racial or indigenous identity, say, for the purposes of taking advantage of an affirmative action program?
Soon after the HGP entered public consciousness, the Australian Law Reform Commission and the National Health and Medical Research Council began grappling with these questions.
The process included a massive community consultation, culminating in the 2003 report Essentially Yours: the Protection of Human Genetic Information. Most of its 144 recommendations have been implemented by successive governments, providing a sound and sensible policy platform.
For instance, the federal Privacy Act was amended to cover genetic information, designating it as sensitive information worthy of strong protection.
The act also recognises the inherently familial dimension of genetic information, permitting cancer registers and tissue banks to make some disclosures to first degree relatives for their own health and well-being.
Federal anti-discrimination laws were amended, preventing discrimination on the basis of a person's real or perceived genetic status. The ALRC and the NHMRC pushed for strong intervention in the employment context, to avoid the creation of a genetic underclass of peoplewilling to work, but with test results showing a predisposition to a condition that might manifest in future.
In Australia, the life insurance industry's policy is not to require genetic testing or encourage it with financial incentives. Applicants must, however, reveal any information, genetic or otherwise, that's relevant to their risk profile
The industry is improving its underwriting process to ensure they meet the statutory requirement for actuarially and scientifically reliable decision-making, as well as increasing transparency and responsiveness to legitimate consumer interests and concerns.
But perhaps the most powerful lesson from the HGP is that science must be regulated in the public interest, with social policy more important than technological possibility. People aren't gene machines. We are worth more than the sum total of our genetic sequences.
David Weisbrot is Professor of Law and Governance at Macquarie University, a member of the NHMRC Human Genetics Advisory Committee and former President of the Australian Law Reform Commission. He is a Professor of Legal Policy at the US Studies Centre.