Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Human genetic testing: implications and recommendations

06.05.2004


Genetic testing identifies illnesses that might be linked to our genes. It can help recognise hereditary diseases, tailor cures to an individual’s genetic make-up and develop new drugs. But its use also has important ethical implications.



At a conference on “Human genetic testing: what implications?” organised by European Research Commissioner Philippe Busquin in Brussels today and tomorrow, a High Level expert group will present a report and 25 recommendations on how genetic testing can be used in a responsible and ethical way.

The Expert Group, chaired by Mrs Eryl McNally, Member of the European Parliament, includes scientists and representatives from different academic backgrounds (law, philosophy, ethics and medicine), non-governmental organisations (such as patient organisations) and the pharmaceutical industry (Bayer, Genzyme, GSK, Novartis, Roche). Recommendations focus on the quality of genetic tests, the need for genetic screening of rare and serious diseases, ethnicity, the protection and confidentiality of genetic information and the economic and social consequences of genetic testing especially its impact on health care systems.


“Research has dramatically improved the early detection of illnesses. But European citizens rightly expect that the results of genetic tests are reliable and that their genetic information is used properly,” said European Research Commissioner Philippe Busquin. “This new and powerful technology must be used in a responsible way and developed in a climate of confidence with the public at large. It is therefore important that the Expert Group’s recommendations are widely discussed and implemented by Member States and the medical and research communities through appropriate follow-up measures.”

To foster the debate on genetic testing at the broadest level, the Group consulted other experts in Europe and the US. International organisations such as the Organisation for Economic Co-operation and Development (OECD), the United Nations Educational, Scientific and Cultural Organisation (UNESCO), the World Health Organisation (WHO), the Council of Europe and the European Agency for the Evaluation of Medicinal Products (EMEA) have also been involved in the Expert Group’s work.

Why genetic testing?

Genetic testing is used to help identify features of genomes that might be linked to a disease or that are at risk of developing into a disease. As a person’s DNA does not change during their lifetime, medical predictions based on genetic analyses look into long-term trends in health conditions. They can help foresee the future reoccurrence and development of diseases and can therefore help prevent and cure them. They can thus help to shift the focus of health care to disease prevention and foster healthier lifestyles, reducing the costs of health services and improving the quality of life for European citizens in an ageing society.

But genetic tests can also cast a shadow over a person’s life and affect their family and friends. They play a key role in making life-long decisions and must therefore be as accurate as possible. Doctors, health care professionals and patients will have to make decisions on the need for a test based on a sound understanding of their consequences. Currently, only a small number of people are familiar with the kind of decision-making and the consequences of genetic testing.

More tests across Europe

Scientists’ success in deciphering the human genome, the three billion letters of the DNA code that describe a person’s unique genetic mapping, has led to a marked increase in demand for genetic testing as a medical diagnostic aid. The number of tests performed annually in Europe is now more than 700 000 (this figure refers to the overall number of tests carried out each year in the EU, and does not represent the number of different genetic tests), with an estimated economic value of €500 million per year.

Recommendations

To promote a wider debate an the ethical, legal and social aspects of genetic testing, the European Commission has consulted an Expert Group, chaired by Mrs Eryl McNally, Member of the European Parliament, and personalities from academia, industry, health care systems and patient organisations. After one year of work the group has published 25 recommendations that will be discussed at the conference.

Test quality

Although genetic-testing services in Europe are based on high-quality scientific know-how, they can suffer from technical errors and poor reporting. This is caused by the lack of a structured approach, complementary processes and common objectives in providing quality services to all citizens. In the context of healthcare, a test should only be offered when it has been proven to be reliable and when there is a sound medical reason to justify it. A test validation system should therefore be established.

Rare diseases

Few countries have launched screening programmes for serious rare diseases. The Group suggests that a European network for diagnostic testing of rare genetic diseases be created and financially supported as a matter of urgency. For rare and serious diseases where treatment is available, EU Member States should screen babies in their first month after birth as a priority.

Ethnicity and genetics

There may be differences among patients based on their ethnic origin, with respect to genetic testing. Some genetic variants are more common in certain populations or groups. Specific attention should be paid to such groups in the context of developing new tests to ensure fair access and to avoid stigmatisation or stereotyping based on race. Specifically, genetic tests must never be used to determine ethnicity.

Data protection: confidentiality, privacy and autonomy

Public concern regarding genetic testing revolves around the fear of misuse of genetic data and inappropriate access to such data by third parties. The confidentiality and privacy of all personal medical data, including information derived from genetic testing, is a basic right that must be respected. The individual has the right to know about test results, but also has the right to decide not to know. Legal protection in this field is of paramount importance and the existing EU Data Protection Directive provides an appropriate framework to shield personal data.



Relatively little information is presently available at EU level on the impact of genetic testing on health care systems and health economics. The expert group recommends funding be given for European research into the impact of genetic testing on the social, cultural and economic aspects of healthcare provision.

Commission surveys quality standards of genetic testing

To contribute to the debate on genetic testing, the Commission’s Joint Research Centre recently published a report: “Towards quality assurance and harmonisation of genetic testing services in the EU”. The study surveys quality standards of genetic testing across Europe. It identifies shortcomings and proposes measures to ensure the highest quality of these services including harmonised quality controls, the development of a common range of certified reference materials, better cross-border co-operation and the establishment of a European database of genetic testing centres.

Wappelhorst, Michael H | alfa
Further information:
http://europa.eu.int/comm/research/conferences/2004/genetic/recommendations_en.htm
http://europa.eu.int/comm/research/index_en.html

More articles from Life Sciences:

nachricht New mechanisms regulating neural stem cells
21.02.2019 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

nachricht A landscape of mammalian development
21.02.2019 | Max-Planck-Institut für molekulare Genetik

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Light from a roll – hybrid OLED creates innovative and functional luminous surfaces

Up to now, OLEDs have been used exclusively as a novel lighting technology for use in luminaires and lamps. However, flexible organic technology can offer much more: as an active lighting surface, it can be combined with a wide variety of materials, not just to modify but to revolutionize the functionality and design of countless existing products. To exemplify this, the Fraunhofer FEP together with the company EMDE development of light GmbH will be presenting hybrid flexible OLEDs integrated into textile designs within the EU-funded project PI-SCALE for the first time at LOPEC (March 19-21, 2019 in Munich, Germany) as examples of some of the many possible applications.

The Fraunhofer FEP, a provider of research and development services in the field of organic electronics, has long been involved in the development of...

Im Focus: Regensburg physicists watch electron transfer in a single molecule

For the first time, an international team of scientists based in Regensburg, Germany, has recorded the orbitals of single molecules in different charge states in a novel type of microscopy. The research findings are published under the title “Mapping orbital changes upon electron transfer with tunneling microscopy on insulators” in the prestigious journal “Nature”.

The building blocks of matter surrounding us are atoms and molecules. The properties of that matter, however, are often not set by these building blocks...

Im Focus: University of Konstanz gains new insights into the recent development of the human immune system

Scientists at the University of Konstanz identify fierce competition between the human immune system and bacterial pathogens

Cell biologists from the University of Konstanz shed light on a recent evolutionary process in the human immune system and publish their findings in the...

Im Focus: Transformation through Light

Laser physicists have taken snapshots of carbon molecules C₆₀ showing how they transform in intense infrared light

When carbon molecules C₆₀ are exposed to an intense infrared light, they change their ball-like structure to a more elongated version. This has now been...

Im Focus: Famous “sandpile model” shown to move like a traveling sand dune

Researchers at IST Austria find new property of important physical model. Results published in PNAS

The so-called Abelian sandpile model has been studied by scientists for more than 30 years to better understand a physical phenomenon called self-organized...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Global Legal Hackathon at HAW Hamburg

11.02.2019 | Event News

The world of quantum chemistry meets in Heidelberg

30.01.2019 | Event News

Our digital society in 2040

16.01.2019 | Event News

 
Latest News

A Volcanic Binge And Its Frosty Hangover

21.02.2019 | Earth Sciences

Cleaning 4.0 in the meat processing industry – higher cleaning efficiency

21.02.2019 | Trade Fair News

New mechanisms regulating neural stem cells

21.02.2019 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>