Human genetic testing: implications and recommendations
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.
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.
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.
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