Genetic testing. The difference diagnostics can make. The British In Vitro Diagnostics Association

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1 6 Genetic testing The difference diagnostics can make The British In Vitro Diagnostics Association

2 Genetic INTRODUCTION testing The Department of Health published Our Inheritance, Our Future - Realising the Potential of Genetics in the NHS in June BIVDA welcomed the document and the statement that "the NHS should lead the world in taking maximum advantage of the application of the new genetic knowledge for the benefit of all patients. We also support the Government s commitment to ensuring that all NHS healthcare staff receive appropriate initial training and continuing professional education in genetics. The aim of this paper is to inform the reader about the role of genetic testing in medical diagnostics, the safety and efficacy of the tests and the industry s position on a range of key issues. Above all else it is important to recognise that genetic test results are essentially similar to any other kind of medical data obtained from in-vitro diagnostic tests i.e. they provide information that helps in medical decision making with the aim of helping individuals to live a longer and healthier life. It is well known that both external (environment and life-style) and intrinsic (inherited, i.e. genetic) factors can affect health. As the availability of DNA-based technology has expanded, the quantity and precision of genetic information that can be obtained and used to deliver healthcare has also increased. Genetic testing is a particular form of molecular medicine, already widely used to identify and quantify infectious diseases such as hepatitis. Future progress in human molecular genetics will continue to increase the opportunities for using genetic tests to: Develop new diagnostic tests for medical disorders that are currently difficult to diagnose Enable clinicians to select patients more likely to respond to drug treatment and reduce the likelihood of adverse affects (pharmacogenomics/genetics) Increase the accuracy of early prediction of disease. Examples of Genetic tests which are already being used Using medical tests to obtain information about genetics for clinical purposes (medical genetic testing) is not new. Examples of tests already used by the NHS include: The detection of sickle cell anaemia (an inherited disease with high prevalence in families of African and Southern European descent) by examining blood cells A number of prenatal diagnostic tests are routinely offered during pregnancy such as maternal serum alpha-fetoprotein screening and chorionic villus sampling To indicate whether an individual with a family history of late-onset disease such as Huntingdon s is likely to develop the disease.

3 Genetic Testing: Impactesting Scientifically, all genetic information is another type of general medical data. The actual value of current genetic data can vary widely based on our knowledge today. Genetic data related to rare inherited diseases is already well characterised, but for more complex polygenic diseases we still need to perform further research in order to make sense of the genetic component. There are two major categories of disease based on either the importance of inherited factors or environmental / life-style factors. Common complex diseases (e.g. heart disease, diabetes, arthritis, etc.) represent most disorders and have a big impact on the burden of healthcare. In these diseases, the relative contributions of external and genetic factors are balanced. Knowledge of genetic factors assists in achieving more accurate diagnosis,prediction of disease or improvement of the treatment of disease, in the same way that other diagnostic results do. Any information on genetic variants in common complex disease must be taken in the context of environmental or lifestyle factors with which they interact. Rare, monogenic, classic inheritable diseases rely on the result of the genetic test to confirm the clinical symptoms (e.g. Huntington's disease, cystic fibrosis, haemophilia) for diagnosis. However, even in single-gene disorders, environmental factors may still be important as the trigger for clinical events; and substantial variation exists within diseases (e.g. severity, age of onset, etc) which can be attributed to environmental and life-style factors. The main difference between these two categories is the relative importance of the information from the genetic test with regard to the diagnosis of disease. Pharmacogenomics It has been known for some time that the efficacy and tolerability of drugs vary from individual to individual. Some patients need a higher or lower dosage of a drug than others to achieve the same benefits; some individuals suffer from unexpected side effects; and sometimes a drug appears to have no effect at all. The new technology being developed using pharmacogenomics and pharmacogenetics (see definitions) have the potential to improve patient outcomes and reduce the risk of adverse drug reactions, which should in turn allow patients to be treated more cost effectively. An early example of this technology in action involves a drug, Herceptin, which is used in the treatment of breast cancer. Herceptin is only effective in women who have a genetic mutation causing the overproduction of a molecule known as the HER2 receptor. When these receptors are present in large numbers, they can result in the growth of tumours. Herceptin is directed specifically at the receptors - and so it can only help women who have the relevant gene. In other women this highly specific drug is much less effective. Herceptin should therefore be used in conjunction with the relevant genetic test to ensure the optimum outcome for the patient.

4 Genetics Patient Education, Counselling testing and Support The diagnostic industry recognises the importance of providing information on current progress in genetics to improve public knowledge and understanding of genetic testing. Manufacturers should provide relevant information about their tests to both the users of the tests and to the general public. The way genes affect individual people is biologically complex and can be difficult to understand. In certain rare disorders (monogenic diseases) genetic testing provides categorical information about disease risk. In these cases, the need for specialised explanation and psychological assistance ( genetic counselling ) is generally acknowledged. In future, there will be a need to reassess the information and education available, for example in the growing role of genetic testing to allow modification of treatment. An active debate is ongoing about whether this information should be collected and how it should be used, largely because there is little current experience using the predictive power of genetic diagnostic data for common complex diseases, Given the fact that genetic testing results are not qualitatively different from any other kind of medical data, such as knowledge of HIV status, the debate should be re-focused on the context of the data, and on the appropriate governance of how all medical information should be used. Therefore, the IVD industry strongly endorses a wide dialogue among all interested parties to reach consensus on how medical information should be used and which uses of this information should not be allowed. In the UK the Human Genetics Commission (www.hgc.gov.uk) is the Government s advisory body on how new developments in human genetics will impact on people and on healthcare. It is important that informed and concerned individuals should have access to genetic tests and to their own genetic information, with associated counselling if required. Ethical Issues Genetic testing raises important ethical, religious and social issues regarding when testing should be allowed (pre-implantation, pre-natal, newborn, postnatal, in childhood, adolescence or adulthood) and what use should be made of the results. Quality and Safety of Genetic Tests Medical genetic tests that are manufactured by industry and commercially available in the UK must be produced in compliance with the In Vitro Diagnostic (IVD) Medical Device Directive 98/79/EC. Compliance with national legislation is regulated by the Medicines and Healthcare products Regulatory Agency (MHRA). However, within the NHS, genetic testing is often performed using noncommercial tests developed in-house. There is an exemption in the law to allow this providing that the tests are made in, and used only within, the same health institution. Largely this occurs as the tests are too new to have become widely available commercially.

5 Genetic testing BIVDA POSITION Genetic test results are not qualitatively different from any other kind of medical data obtained from in-vitro diagnostic tests. They are generated in order to help healthcare professionals make decisions as part of patient care Industry recommends that in-house tests produced within the NHS be made according to the same standards as commercially manufactured products, and that all laboratories offering genetic testing services have relevant quality management systems and are accredited for the type of specialised testing they are performing. The in-vitro diagnostics industry would like to see new technology in molecular medicine used and positively accepted as part of the established process to gain clinical information, to treat and cure diseases and to improve the quality of life, while respecting the right of the individual concerned to confidentiality. The IVD industry firmly opposes any inappropriate discrimination against, or unlawful differential treatment of, individuals based on their present or future health status, or on medical data including genetic information. Any safeguards on the use of medical data should not impede the ability to carry out research necessary for innovation.

6 Genetic testing Definitions: DNA (Deoxyribonucleic acid) The molecule that encodes genetic information in the nucleus of cells. It determines the structure, function and behaviour of the cell. RNA (Ribonucleic acid) is a nucleic acid found in all living cells and it plays a role in transferring information from DNA to the protein-forming system of the cell. Genetics The study of the laws of inheritance and the properties of genes. Genetic testing The in-vitro analysis of structural properties of DNA (the sequence and/or chemical modifications of nucleotides), or of those properties of RNA, proteins, or metabolites that are the direct and sole consequences of their DNA template structure. Genetic testing is performed to provide information about inherited or acquired traits that are transmitted during cell division and that affect all subsequent generations of cells (somatic) or offspring (germinal). Genome The totality of the genes of an organism, which are largely unchangeable. Genomics The study of the form, function and interactions of the genes of an organism. Molecular Medicine The application of molecular biology (in particular genetics, genomics and proteomics) to medicine. Monogenic disease is a disease controlled by or associated with a single gene and so polygenic diseases are those due to the combined action of more than one gene. Pharmacogenetics The study of the influence of genes on the efficacy and side effects of drugs. Pharmacogenomics The study of the interaction between drugs and the human genome. Proteome The totality of the proteins of an organism, which are usually constantly changing. Proteomics The study of the form, function and interactions of the proteins of an organism. The British In Vitro Diagnostics Association 1 Queen Anne s Gate, London SW1H 9BT Tel: Fax: Web: References: Our Inheritance, Our Future - realising the potential of genetics in the NHS (Department of Health June 2003) European Diagnostic Manufacturers Position Paper on Genetic Testing (October 2003, November 2004

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