RARE DISEASES AND GENETIC DISCRIMINATION

Rare diseases are characterised by their low prevalence (less than 1/2,000) and their heterogeneity. They affect both children and adults anywhere in the world. From the medical perspective, rare diseases are characterised by the large number and broad diversity of disorders and symptoms that vary not only from disease to disease, but also within the same disease.Main characteristics of rare diseases include:· Rare diseases are often chronic, progressive, degenerative, and often life-threatening· Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy· High level of pain and suffering for the patient and his/ her family · No existing effective cure· There are between 6000 and 8000 rare diseases· 75% of rare diseases affect children· 30% of rare disease patients die before the age of 5· 80% of rare diseases have identified genetic origins. Other rare diseases are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.Beyond the diversity of the diseases, rare disease patients and their families are confronted with the same wide range of difficulties arising directly from the rarity of these pathologies. The period between the emergence of the first symptoms and the appropriate diagnosis involves unacceptable and highly risky delays, as well as wrong diagnosis leading to inaccurate treatments. Living with a rare disease has implications in all areas of life, whether school, choice of future work, leisure time with friends, or affective life. It may lead to stigmatisation, isolation, exclusion from social community, discrimination for insurance subscription (health insurance, travel insurance, mortgage), and often reduced professional opportunities.Innovative treatments are often unevenly available in the EU because of delays in price determination and/or reimbursement decision, lack of experience of the treating physicians (not enough physicians involved in rare diseases clinical trials), and the absence of treatment consensus recommendations.It is fundamental to realise that rare diseases can affect any family at any time. It is not just “something terrible that happens to other people”. It is a very cruel reality that can happen to anyone, either when having a child or in the course of one’s own life.In fact, the terminology “rare diseases” only highlights the characteristic of rarity of the complex and heterogeneous mosaic of an estimated 7,000 life-threatening and heavily debilitating conditions.The rare diseases for which a simple and effective preventive treatment is available are being screened for, as part of public health policy. But this is not enough, and it is essential for public authorities to consider rare diseases as a Public Health priority and take action to concretely support patients and families affected by rare diseases.As underlined in the Background Paper on Orphan Diseases for the World Health Organisation Report on Priority Medicines for Europe and the World, “despite the growing public awareness of rare diseases in the last one or two decades, there are still many gaps in knowledge related to the development of treatment for rare diseases. Policymakers have to realise that rare diseases are a crucial health issue for about 30 million people in the EU”.A good medication for rare disease patients is a medication that is both available in the country where they live and affordable. If one of these two factors is missing, the drug is of little use.Personalized medicine however is an emerging term for a medical philosophy that uses a person’s individual clinical, genetic, genomic, and environmental information to tailor a treatment plan that will maximize efficacy and safety for that individual. While the technology offers much promise, it also is also challenged by some ethical and social questions in both its clinical application and in its research enterprise. Questions about privacy, safety, phenotypical expression, drug interactions, and genetic vs. social group identities will challenge clinical pharmacogenetics

PATIENT SAFETY AND HEALTHCARE-ASSOCIATED INFECTIONS

Healthcare-associated infections are infections caused by a wide variety of common and unusual bacteria, fungi, and viruses during the course of receiving medical care. Medical advances have brought lifesaving care to patients in need, yet many of those advances come with a risk of healthcare-associated infection. These infections related to medical care can be devastating and even deadly. As the ability to prevent healthcare-associated infections grows, these infections are increasingly unacceptable.Recent successes in healthcare-associated infections elimination have been very encouraging. Examples include sustained reduction in central line-associated bloodstream infections by 70%, simply by ensuring adherence to available guidelines. Reductions have been demonstrated for other helthcare-associated infections as well, but, much more remains to be done.Wherever patient care is provided, adherence to infection prevention guidelines is needed to ensure that all care is safe care. This includes traditional hospital settings as well as outpatient surgery centers, long-term care facilities, rehabilitation centers, and community clinics

NEW PROPOSAL FOR EUROPEAN UNION REGULATIONS ON MEDICAL DEVICES AND IN VITRO DIAGNOSTIC MEDICAL DEVICES

Appropriate legislation is fundamental to ensuring the highest level of health protection and effective innovation. Until the 1990s, each European Union country had its own approach to device evaluation but governments needed to put in place policies that will address all elements related to medical devices, ranging from access to high quality, affordable products, through to their safe and appropriate use and disposal. In order to ensure that patients, consumers and healthcare professionals can reap the benefits of safe, effective and innovative medical devices, the European Commission has proposed two new Regulations. The first proposal is for Regulation on medical devices and is to replace Directive 90/385/EEC regarding active implantable medical devices and Directive 93/42/EEC regarding medical devices, while the second proposal is for a Regulation on in vitro diagnostic medical devices and is to replace Directive 98/79/EC. The proposed Regulations foresee to amend and clarify the scope of the legislation, to take into account scientific and technological progress

LEGAL ASPECTS OF DIRECT-TO-CONSUMER GENETIC TESTS.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. The main difference between direct-to-consumer genetic testing and the standard genetic testing is the way informational support is provided in internet offers of testing. Counselling may be offered as an additional special service at extra costs and at the customer's request. It may also be that a recommendation or at least an offer is given for the customer to contact a doctor or health practitioner from the company via phone for counselling.In a liberal society the fundamental individual rights can be considered to include access to medical treatment and diagnostics that may be helpful for improving one's health condition or that can help an individual make decisions regarding life style and health. At the European level, there are no binding legal regulations that specifically apply for genetic testing. In some European counties, national laws, require a responsible medical person to be involved before a genetic test is provided. The Convention on Human Rights and Biomedicine was adopted by the Committee of Ministers on 19 November 1996, while an Additional Protocol to the Convention, concerning Genetic Testing for Health Purposes, was adopted by the Committee of Ministers on 7 May 2008.Direct-to-consumer genetic testing is closely watched by the community of medical genetics and counsellors, and the EU funded Eurogentest Network of Excellence.In 2010, the European Society of Human Genetics has releaseda statement on direct-to-consumer gene testing for health-related purposes. The European Society of Human Genetics is concerned about the way in which commercial companies are currently introducing genetic tests into the market outside of the scope of the traditional healthcare system

MEDICAL DATA PROTECTION IN RELATION TO HUMAN GENETIC DISCRIMINATION

Information about a person's genetic status can lead to discrimination by excluding the person from particular jobs (for which a particular genetic trait might indicate a risk) or from health insurance (because of foreseeable increased health care costs that might be indicated by a person’s genetic status). Genetic information has characteristics that set it apart from other types of personal information. Genetic testing produces information and data on the current or future health or (more generally) physical status of a person. This information can be used for nonmedical purposes, such as insurance and employment purposes. Insurers might wish to use a genetic test result for underwriting, just as other medical or family history data. Employers might wish to ensure that an individual does not have a genetic risk which might affect his ability to work or which might lead to problems of safety to the individual or to others.Clearly there is a need for strong laws backed up by wellexecuted policies and procedures to prevent unauthorized genetic testing of people or of access to their genetic information, wherever it may exist, in patient records or computer databases

EUROPEAN UNION REGULATION ON PREVENTION FROM SHARPS INJURIES IN HOSPITAL AND HEALTHCARE SECTOR

Healthcare personnel, especially those involved in some specific departments and activities (emergency care, intensive care, surgical interventions, etc.) and non-healthcare personnel linked to this sector are often face the risk of infection due to injuries caused by needlesticks and other sharps injuries (scalpels, suture equipment, etc.). Health care workers may also incur injuries from improper procedures, such as passing sharps hand-to-hand between team members, placing sharps in a disposal container, or failing to use a safer sharps device. In the community strategy for health and safety at work (2007-2012), the Commission announced its intention to continue its work to improve risk prevention, among other things, relative to needlestick infections. Council Directive 2010/32/EU of 10 May 2010 implementing the Framework Agreement on prevention from sharp injuries in the hospital and healthcare sector provides a framework to put in place and implement practical preventative measures before the publication of the required national legislation in each country