By John Howe

From the first use of spectacles in 1280 to today’s high-tech medicine, the end result has been a healthier and longer life.

Imagine a future where ‘Sue’ will walk into the doctor’s surgery (office), swipe her health card through a scanner and immediately her individual health records will be updated. Every thing from the last G.P. or hospital appointment to the results of an x-ray, mammogram or Pap smear is transferred both to her card and to her doctor’s computer.

The doctor will be instantly updated on Sue’s current health status by just a few touches to the monitor screen and able to provide appropriate treatment, care and advice almost in an instant.

Sue’s family history will be stored on the same card alerting the health provider to possible family health traits of which Sue may need to be aware. And giving the health provider the opportunity to counsel and suggest preventative health strategies.

Information technology, genetic research and pharmacogenomics combined to provide best medical practice deployed to the benefit of Sue and her family and it may not be too far away...

The Evolution of Health Care Technology

Tools and Treatments
It is remarkable to think that it was only just over a century ago that a modified galvanometer was used to record a crude ECG and that x-rays were beginning to be routinely used as a diagnostic tool. Endoscopic investigation of the body’s structures is just over fifty-years old as is the artificial pacemaker and the ultrasound scan. The very first use of a CT scan happened well within the memory of many doctors working today.

During the last century, the average life span in developed countries has increased by 20 years or so. These extra years of life were gained from gathering information then available and using it to the benefit of all. Better housing, improved sanitation, nourishing food, and education contributed greatly to the increased life span, as did the use of antibiotics.

These small steps in medical advances are the forerunners of today’s technology that can pinpoint a tiny cluster of cancer cells, identify genetic disorders and encourage stem cells to produce specific body tissues. But this may be just the beginning of a health care future that holds a prospect rich with individualised care. The final brick in the wall had to wait until the advent of powerful computers and the unravelling of the secrets of the human genome. These two developments are giving health providers better equipment to diagnose and treat diseases.

High Tech Health Care
The erstwhile killers of TB, pneumonia, influenza and smallpox no longer stalk humanity in the way they did. But a handful of other deadly conditions have replaced them; today’s big killers are heart attacks, strokes and cancer. The human genome project combined with powerful and specialised information technology have allowed great strides to be made in understanding these new killer diseases and thereby curing or preventing them altogether.

The rapid pace of genetic research combined with effective IT is changing and enhancing how medical science fights disease. For instance within just a very short time from the emergence of Severe Acute Respiratory Syndrome (SARS) a team of Canadian researchers isolated the virus’s genetic makeup and from that a treatment and perhaps cure is possible.

This and other advances were made possible by a collaboration between genetic science, information technology and pharmacology that allowed research scientists to access high powered computers to do the work that would previously have taken years, if ever, to complete. This link between these pillars of health care will have beneficial effects on the human condition. The goal being improved health care delivery and better patient care that promises a longer and better quality of life.

Genome-based Research
Medical researchers and biotechnology companies are leading the way in genome-based disease research that will guide medicine to the dawn of a new age in health care where health professionals have more accurate information about the patient and his or her health status. This technology will allow doctors to make better diagnostic and treatment decisions and to treat people not as numbers and statistics but as individuals.

To the present, most; if not all diseases and conditions are treated with one drug or another and sometimes many in combination using the notion that one size fits all. If one drug doesn’t do the job then try another until the disease is cured or controlled. All drugs of course are toxic and a drug used in good faith may cause harm to one patient but not the next.

However, in the information-based future, health professionals will be able to conduct a few simple tests to determine which treatment best suits the patient. The results will allow the physician to precisely select an appropriate drug providing the best and safest treatment for the patient while curing the disorder.

Did You Know? Today it is possible to test the foetus in the womb to determine the presence of genetic disorders. Future advances in pharmacogenetics will allow the manipulation the foetuses’ genetic structure eradicating the defect to produce a ‘healthy’ human.

Today powerful information technology programmes allow health professionals to gather a patient’s entire medical history from drug reactions, test results and radiographic images to personal and family medical records and histories – all into one source. The physician will have access to a wide picture of the patient’s health history and contemporary health status enabling care to be targeted to its best advantage.

Baby boomers may live to a ripe and healthy old age and the number of octogenarians and nonagenarians who are active and healthy has increased by about 40 percent in the last century. The use of information-based medicine, genetic research and pharmacogenomics may well extend our children’s and grandchildren’s life span well beyond a hundred years and more. Whether that is a blessing or a scourge, only time will tell.

Personalised Medicine

Precision Medicine
It is possible to go even further and to enhance win-win patient-centred care, as it is only a short step from selecting patient-appropriate remedies to identifying which drugs and treatments will favourably or not affect patient wellbeing. Indeed the first steps have been made in this precision medicine.

Herceptin is used to treat aggressive breast cancer both before and after surgery, however, it is not suitable for all women with breast cancer. A simple genetic test identifies the ‘high responders’ who will benefit from taking Herceptin from those women who may be adversely and seriously affected by its use. This allows doctors to accurately identify those women who will gain most from the treatment and those who will suffer undesirable reactions. Herceptin is an early step in the use of what is called pharmacogenomics.

Pharmacogenomics
Because people inherit variations in their genetic make up no two individuals will respond identically to the same treatment for the same disease, one responding well the other poorly and may even suffer debilitating side effects. This is where pharmacogenomics will have its greatest impact.

Pharmacogenomics offers the promise of developing drug treatments tailored to the individual’s unique genetic mix creating what can be called personalised or individualised medicine. Even though a handful of tests exist that can detect some genetic variations and how people will respond to certain treatments the science is not widely used.

Just as a computer needs an operating system to work so does the body; the body’s operating system is made of bits of vital information called genes strung together as DNA. Just as genes determine eye and hair colour so they can determine how you react to drugs. So the human genome project combined with information technology and pharmacogenetics will provide health carers with the ability to offer better more effective and safer treatment.

Pros And Cons
The benefits of information-based medicine will include being able to make better medication choices reducing iatrogenic morbidity and mortality. Along with an ability to predict who will positively react to medications and who will not, all this revealed even before the first dose is administered.

Today drugs are prescribed as a one fits all and the dose is based on factors such as age, weight and height for example. Using information based medicine and pharmacogenomics will eliminate hit and miss dosing replacing it by accurate identification of an appropriate drug and its optimal individualised dose.

There are barriers and draw backs to the use of genetic research, information technology and pharmacogenomics all of which are in their infancy and have some way to go to be safely used as therapy. There may be many millions of genetic variations to identify that will take many years of research. Response to medications etc may not be determined by one gene but by many.

But the ultimate goal of information-based medicine using all the techniques available is to prevent disease in all its forms. One day a range of tests may be available to determine an individual’s vulnerability to one or more diseases and together information-based medicine and pharmacogenomics will enable preventative therapies to be administered to these people even before the disease presents itself.

Challenges and Issues in Personalised Medicine and Pharmacogenetics

Pharmacogenetics has great potential to advance medical treatment and drug discovery. With advances in these fields will come technical and economic challenges, as well as ethical issues.

Challenges

1. Genome analysis for all individuals: Rapid, automated methods must be developed to efficiently identify *SNPs in the three-billion-base-pair genome that influence susceptibility to disease and individual drug response.
2. Studying the biology of genes involved in disease and drug reactions: It can take decades to study a gene's product, function and association to drug response.
3. New techniques need to prove their worth: SNP analysis and expression profiling are in their infancy, and few success stories exist.
4. Complex diseases really are complex! In reality, disease and drug response can involve hundreds of genes. Environmental factors such as age, nutrition and lifestyle can influence disease and drug response as well.

Issues

1. Adopting new practices in healthcare: Health care providers and pharmacists will have to become educated about new diagnostic tests and how to use them when treating and advising patients.
2. Who will pay for it? Today's methods for SNP analysis and expression profiling are expensive. Health insurance companies may not want to pay for extra diagnostic tests, and economic issues might influence which drugs pharmaceutical companies choose to develop.
3. Ethical and privacy issues: Identified genetic susceptibility to disease may have implications for employers and insurance companies. Who will have access to genetic information and databases?

Source: learn.genetics.utah.edu.

* Note: SNP are Single Nucleotide Polymorphisms (SNP, pronounced “snip”) is a single base pair within a DNA sequence that can vary among individuals. An example of a SNP is the change from A to T in the sequences AATGCT and ATTGCT.