Home Articles Preventative medicine: a bitter pill to swallow

    Preventative medicine: a bitter pill to swallow


    Preventative genetic medicine has opened a can of worms — for ethicists, scientists, medical practitioners and governments.

    What will happen when a person’s genetic weaknesses can be identified at birth (or ever before birth)? Are we playing god, creating a future where a person’s destiny can be determined in utero?

    Can we expect to see a world where science will be able to detect the exact moment when a cell mutates to become a cancer, possibly years in advance? Will science then offer customised treatments that will allow the body to cure itself?

    And what will be the impact on healthcare budgets? Can governments truly afford to subsidise medicines to treat ailments that may never eventuate?

    Medicine is entering a phase of unparalleled discovery. But are we truly ready for this brave new world?

    While few would disagree that understanding the human genome is expected to revolutionise the practice of medicine, it’s still unclear just how the gene genies working feverishly to unravel the building blocks of life will harness this information.

    It’s a big job. Just how big is not easy for many of us mere mortals to comprehend, but for the record, the star of this massive production is the genome, which consists of two sets of 23 giant DNA molecules or chromosomes, with each one containing three billion chemical units.

    What’s equally daunting about this scenario is the long list of social, ethical, legal and financial ramifications – equally as colourful as the human genome project – and promising to be as difficult to unravel as the mysteries of life itself.

    Before charging into the breach, however, let’s take a deep breath, stand back and remember that this so-called revolution didn’t happen overnight. In fact, genetic medicine pre-dates the pioneering work of James Watson and Francis Crick by many decades, having been used as a tool for diagnosing a handful of relatively rare diseases inherited in a simple Mendelian fashion.

    That said, though, it’s becoming apparent that what lies ahead is truly revolutionary, heralding an era where the practice of medicine is shifted from its current emphasis on diagnosis and treatment to one of prediction and prevention.

    Other experts take it even further, saying that predictive genetics will turn the medical field – as we know it – inside out. That’s because instead of beginning with a disease and searching for its origin, genomics will start with a genetic variation and assign treatments that influence it, often before the gene develops some disease mutation.

    “Till now, all the drugs discovered for psychosis, for example, were discovered accidentally. The genomic revolution now gives us the ability to race through identification, validation and potential treatments for a whole host of disorders, many of which we believe – within our own work involving the brain – will be controllable by 2050,” says Professor Fred Mendelsohn, Director of the Experimental Physiology and Medicine at the Howard Florey Institute.


    There already are a few genetic ‘pills’ available, including Glivec, which is used to treat patients with chronic myeloid leukaemia, a disease that afflicts about 1 in every 100,000. This drug targets an abnormal piece of DNA in cancerous cells, kills them without affecting neighbouring healthy ones. After one year’s treatment, about 90% of patients are free of the disease and nearly half show a complete or near disappearance of the abnormal gene that triggered the illness in the first place.

    There are many visions of where the field is headed with the most ‘out there’ envisioning a time when everyone will wear a biological barcode bracelet or carry around their DNA in a disc where all relevant genetic information will be as easy to use as swiping a credit card in the supermarket.

    Such a scenario is certainly possible, but still quite far off, largely because the Human Genome Project gave scientists and researchers a much healthier respect for the root causes of many diseases.

    While some 4,000 single gene disorders have been identified, there are many times this number that are far more complex, not to mention the raft of external factors such as varying levels of diet, exercise, smoking – even air pollution – that can cause illness.

    “Each gene can malfunction in hundreds of ways indicating that there is a possibility that things can go wrong in millions of ways,” says Prof Richard Cotton, Director, Genomic Disorders Research Centre at The University of Melbourne.

    “We’ve got another century of work ahead of us, to figure out how all these things relate to each other,” said David Baltimore, the President of California Institute of Technology in a recent report.

    “Though scientists underscore the importance of their accomplishment by calling the genome a ‘portrait of who we are,’ they quickly append that people are not, and never will be, mere products of their genes.”


    In the meantime, many biotech companies are fast-tracking development of designer diagnostic tests to detect errant genes in people suspected of having particular diseases or of being at risk of developing them.

    Some argue that pharmaceutical companies are moving into this area to stake a claim in the burgeoning genetic diagnostic kit market, while others cynically say it’s because they fear what will happen to their drug profits when the market moves from the ‘one-size-fits-all’ pill to truly personalised designer tablets.

    It’s here that we turn to one of the white-hot debates of the genetic medical field – just how much more will the use of gene-based treatments escalate the cost of healthcare?

    On the one hand, it can be argued that better testing techniques should scale down the need for shotgun, trial and error drug discoveries. So-called pharmacogenomics, where drugs can be tailor-made for individuals and adapted to each person’s own genetic make-up, could once and for all do away with the estimated 100,000 deaths and 2 million hospitalisations that occur annually in the US alone due to adverse drug response.

    While such designer drugs will undoubtedly reduce a certain amount of waste in medicine, they could just as easily fuel a new breed of mis-use. That is, if certain drugs are available to people that might prevent a certain disease from occurring, and they insist on taking them over the course of their lifetime, the sheer volume of this will drive health costs up.

    Other experts say the impact on the US$300 billion a year pharmaceuticals industry will be a marked increase in costs rather than profit announcements, as the drug makers’ work on a much higher percentage of unprecedented possible targets that will have a higher failure rate than conventional drugs following in the well-worn footsteps of current shelf products.

    Once such designer drugs do get to market, however, it’s anyone guess what the final price tag will be as pharmaceutical companies try to determine the price point on a treatment that will only be useful to a fraction of their earlier blockbuster items.

    Such cost issues are not only keeping big pharma bosses awake at night, but Government and other health officials trying to figure out just how much of the tab they will have to pick up.

    “The big money decisions will involve treatments, not tests,” says Robert Field, Ph.D., J.D., M.P.H. director of the graduate health policy program at the University of Sciences in Philadelphia. “As we customise medications, the market for them shrinks. It’s almost as if every drug will become an orphan drug with a market of one. The question becomes, how does the financing work?”


    The insurance industry is sure to weigh into the debate as well because the underlying premise of genetic medicine flies right into the face of conventional risk insurance practices.

    Insurance relies on the notion of chance. Genetic-based, predictive medicine removes or, at the very least, dramatically reduces the element of chance.

    Does this then mean that people with positive genetic profiles will drop their insurance policies, thereby driving up the cost for those who remain covered and who are more likely to become ill? Then again, will the insurer pay out if they can prove that the person knew about the illness beforehand?

    Such cost issues are but appetisers, compared to the main course on any genetically-oriented debate menu. The most commonly expressed fear is that genetic information will be used in ways that could harm people – being used to deny them everything from access to health insurance, education, employment – even to get a home loan.

    Genetic discrimination cases are rare in this part of the world, but more common in the US where its Constitution rants about the individual’s freedoms and rights (See: privacy). Freedom is a relative thing, particularly for some employees of the Burlington Northern Santa Fe Railroad. The Company’s employers, apparently on the advice of health officials, obtained blood for DNA testing from employees who were seeking disability compensation as a result of carpal tunnel syndrome that occurred on the job.

    The workers were apparently not told the purpose of the tests, which reportedly was to detect a mutation associated with hereditary neuropathy. The case was settled out of court, without the Company’s rationale for taking the blood tests made clear, but it would seem they were hoping to use the blood test results to build their own case about not having to pay-out disability claims.

    Professor Loane Skene, Professor of Law at The University of Melbourne, has been intimately involved with much of the debate surrounding genetic medicine for several years and has identified just where countries like America and Australia will take different courses of action.

    “In the United States, people have the right to have genetic tests done or not done and to control access to their tissue and genetic information whereas in Australia, we recognise there will be some cases in which it is necessary to give relatives some relevant genetic information,” she said.

    Professor Skene makes clear her preference for the Australian medical model, plainly laid out in a two-volume treatise called ‘Essentially Yours’ by the Australian Law Reform Commission (ALRC). She says there are many different variables separating the two countries, not the least of which is the fact that there is no public health care system in the US and that to date, the laws regarding genetic medicine have been drafted state by state rather than federally since most genetic testing services are regulated by state governments.

    “I’m very pleased with the work done in Australia because of the direct input from the medical profession, focusing on the care of patients at risk of genetic conditions and their families while also rejecting the language of individual patients’ rights, preferring an emphasis on wider responsibility and communal concern,” she explained.


    While ethical issues will continue to crop up as the gene revolution gathers momentum, perhaps the only area where everyone agrees is truly a winner is in the employment stakes.

    Dr Francis Collins, Director of the National Human Genome Research Institute, and one of the chief architects behind the Human Genome Project, has repeatedly said many physicians are totally unprepared for the genetic medical revolution.

    Topping the Want Ad hit list is bioinformatics – a hybrid cross between computer science and biology. Frost & Sullivan, a San Jose, California-based consulting firm, predicts a 10% annual growth rate in the bioinformatics market while the National Science Foundation in the USA estimates at least 20,000 new jobs will be created in this field by next year.

    Much of the work being done now outside the laboratories involves gene sequence analysis and the creation of databases. Employers are looking not only for students looking to move from wet labs into computer labs, but for people with a broad understanding of biology and a background in computer science that’s strong in programming or algorithm development.

    Employment opportunities are expected to be similar in Australia. A typical example is Bill Callaghan of the Victorian Bioinformatics Consortium. Prior to this position, Callaghan plied his computer skills for several companies, but believes there will be more and more opportunities in this burgeoning field.

    “With up to 270 databases involved with just one gene stored worldwide on various programs in differing data quality and formats, it requires a fair bit of skill to extract the relevant data,” he said.

    While many universities are rushing bioinformatics courses into their curricula, some others are seeking to give students more practical biomedical training as well as conventional coursework. A joint initiative between the CRC for Growth Factors and the CRC for Discovery of Genes for Common Human Diseases, invites students to join a research team for at least one day each week. The current program has continued to grow each year since 1999 with over 70 students participating so far.

    The students gain real-life experience in all aspects of research, including laboratory and computing techniques, experimental design and skills development in scientific debate, writing and presentation.

    “Where previously, biomedical research often was conducted by one or two molecular biologists, the genetic medical field requires large, multi-disciplinary teams in which most of its members are multi-skilled themselves,” says Dr Andrea Douglas, CEO of the Gene CRC

    “At the same time, we don’t think genetic education begins and ends with university-level students. We spend a good deal of time talking with secondary school groups, because while much of the groundwork is being done now, the full import of genetic medicine is still some years away,” Dr Douglas concluded.


    When Watson and Crick unlocked the mysteries surrounding the structure of DNA in 1953, their every move was recorded in three simple tones – black, white and grey.

    Fast forward 50 years to the next major biological milestone, the deciphering of the human genome, and DNA bursts onto our computer and television screens in every colour imaginable in the universe.

    As the final pieces of the puzzle fall into place, our collective attentions will, and should, shift toward moral and ethical possibilities as abstract as the idea of genetic mapping itself.

    Issues will not be black and white, like the early models of DNA, but will reflect the full colour spectrum of opinion and belief.

    “The Human Genome Project effectively lays the whole dictionary of human life in front of us,” says Henry de Aizpurua, Research Development Manager for the Howard Florey Institute in Melbourne.

    “Having all the words is interesting, but useless unless we can put them into sentences that make sense – biologically, commercially and ethically.”