SUNS  4368 Friday 5 February 1999

Geneva, Feb 3 (IPS) - The future of medicine and the health of the world population is tightly related to advances expected in research into genetic technology, said a scientific study from the World Health Organisation.

In 20 year time, when all the human genes have been identified and traced, medicine will be more predictable and preventive, while diagnosis and treatment will be more specific and effective.

A study prepared by the World Health Organisation (WHO) noted the progress made by genetic research and its enormous possibilities, but also of the ethical risks presented by issues like confidentiality and human cloning.

In the last 20 years there has been an explosion in knowledge on the role played by genes in human health from the moment of conception until death.

Today, the whole world knows that DNA determines congenital malformations which take the lives of millions of children.

The genetic code of DNA also accounts for predispositions to mental disturbances and the main non transmissible diseases like cancer, cardiovascular complaints, hypertension, asthma, diabetes and chronic rheumatoid arthritis.

Five percent of children worldwide are born with congenital or hereditary problems and nearly 40 percent of adults have some genetic predisposition to common illnesses throughout their lives.

Monogenic illnesses, genetic predisposition and congenital malformations together form a large group of genetic complaints.

The monogenic illnesses like cystic fibrosis, haemoglobin problems and haemophilia, are an important cause of fatal diseases or chronic disabilities especially during infancy.

More than 9,000 monogenic illnesses have been identified. They appear all over the world, although some are more common within certain ethnic groups or geographical areas.

The influence of monogenic illnesses can depend on various demographic and cultural factors, like the age of the mother or the frequency of inbreeding.

Haemoglobin problems (upsets which cause errors in the production of the oxygen carrying substance in the blood) constitute a notable example of the magnitude of monogenic illnesses.

A population of an estimated 250 million, around 4.5 percent of the world total, carries a potentially pathological haemoglobinopathic gene.
Every year, 300,000 children are born with serious haemoglobin problems like sickle cell anaemia.

Prevalence varies from 0.1 cases per 1,000 births in some parts of the world to more than 20 cases per 1,000 in certain parts of Africa.

Genetic predisposition is determined by the genetic heritage of the individual, making them either susceptible or resistant to the illnesses. Environmental factors also play their part.

Until recently it was believed coronary cardiopathies were caused by lifestyle. Factors like tobacco, nutrition and exercise, of course, play a lead role, but family histories frequently reveal a genetic
susceptibility.
WHO scientists warned, for example, that a heart attack before the age of 55 in a close relative constitutes an important risk.

An estimated three million children are born each year with serious congenital malformations. Most of these die before reaching three years old.

Monogenic anomalies have a catastrophic effect on infants and children imposing an enormous emotional, practical and financial burden on their families.

These chronic illnesses are sometimes complicated by the loss of employment and income, and by the increased probability of falling into poverty, loneliness and depression.

WHO noted the burden of genetic problems also falls on the health services of each nation.

Human genetics offers enormous potential for improvements in health for everyone and stemming the advance of non transmissible illnesses.
With the aid of genetics better advice can be given on hygiene and more effective identification and diagnosis of illnesses will be possible.

Progress in genetics has reached such a point that there are now genetic tests for many illnesses which can, in many cases, be carried out before birth.

New techniques include gene therapy - the introduction of a gene sequence into a cell in order to modify the cell's behaviour.

This technique can correct a genetic mutation, like that of cystic fibrosis, destroy a cell, as in cancer, or change a susceptibility as in the coronary arterial complaints.

WHO reported the first experiments with gene therapy are already underway.

But these therapies have raised controversy over the ethics of working with genes, especially when it comes to patenting genetic material or granting authorization for cloning.

WHO recalled that human dignity and protection of the individual were at the core of the many ethical, legal and social questions involved in the development of human genetics.

The medical community is especially concentrating debate on the contentious point of when individuals submitted to genetic testing show a "defective gene" or "genetic mutation," what can be done to shop this meaning a death sentence for them and their relatives.

Both the public and the doctors insist the results of all genetic testing must be strictly confidential to prevent genetic discrimination becoming a reality.

And the scientific, medical and non-medical communities, must lobby for genetic information and technology to be used to preserve the dignity of the individual, stated the WHO.

The availability of techniques to diagnose genetic problems lacking prevention and treatment also propose ethical questions which must be debated amongst all the communities involved, groups of interested patients and professional organisations, added the entity.

Governments, biotechnology companies, aid organisations and medical centres are making greater investments in human genetics every day.

The Human Genome Project is an international initiative, with a three billion dollar budget, with the aim of plotting the plane and sequential order of each of the estimated 100,000 genes which make up the genetic heritage of each individual.

The most important outcome of this project will be progress in comprehension of the way in which the genes interact mutually with the environment to produce normal, or pathological, functioning.