[DNA Ancestry and phenotype markers analyses and French law]. / Traits phénotypiques, origins bio géographiques et legislation française.

Since some of the genetic markers involved in the analyses are single nucleotide polymorphisms located in protein-coding regions or exons, their analyses are today forbidden for forensic application in French law. A recent application of the French Criminal Chamber of "Cour de Cassation" indicates that it would be possible to perform phenotypic studies and Ancestry Informative Markers (AIM) analysis on stain samples but not on samples taken from a body. The authors present the results of the HIrisplex test performed on seven bone samples belonging to a Mongolian Altaï population dated from the late Bronze Age. On account of the obtained results, the authors raise the question of the use of HIrisplex test on corpses and on skeletonized human remains for their identification.

That tumor you're going to get tomorrow maybe: making an informed decision.

With the recent progress in predictive medicine several problems have emerged regarding the ethical aspects of genetic testing. The role of the doctor in communicating the consequences of such testing to the patient has become more important than ever in allowing the potential patient to make an informed decision.

Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening.

Haemoglobinopathies (HbP) are severe autosomal recessive disorders with high prevalence among certain ethnic groups. World Health Organisation (WHO) advises implementing screening programmes for risk groups. Research in the Netherlands has shown that general practitioners and midwives do not perceive ethnicity as a risk factor for HbP. Moreover, registration of ethnicity is a controversial societal issue, which may complicate the introduction of a national preconception or antenatal carrier screening programme. This study investigates attitudes, intention and behaviour of general practitioners and midwives towards ethnicity-based HbP-carrier screening in general. A structured questionnaire based on the Theory of Planned Behaviour was sent by mail to a random selection of 2100 general practitioners and 1800 primary care midwives. Response was 35% (midwives 44.2%; GPs 27.6%). Although 45% of respondents thought that offering a carrier test on the basis of ethnicity alone should become national policy, it is currently not carried out. The main factor explaining lack of intention towards ethnicity-based HbP-carrier screening was subjective norm, the perception that their peers do not think they should offer screening (52.2% variance explained). If ethnicity-based HbP-carrier screening would become national policy, most professionals report that they would carry this out. Most respondents favoured ethnicity registration for health purposes. As most practitioners look for role models among peers, debate among general practitioners and midwives should be encouraged when new policy is to be developed, articulating the voices of colleagues who already actively offer HbP-carrier screening. Moreover, primary care professionals and professional organisations need support of policy at national level.

Negotiating the boundary between medicine and consumer culture: online marketing of nutrigenetic tests.

Genomics researchers and policy makers have accused nutrigenetic testing companies--which provide DNA-based nutritional advice online--of misleading the public. The UK and USA regulation of the tests has hinged on whether they are classed as "medical" devices, and alternative regulatory categories for "lifestyle" and less-serious genetic tests have been proposed. This article presents the findings of a qualitative thematic analysis of the webpages of nine nutrigenetic testing companies. We argue that the companies, mirroring and negotiating the regulatory debates, were creating a new social space for products between medicine and consumer culture. This space was articulated through three themes: (i) how "genes" and tests were framed, (ii) how the individual was imagined vis a vis health information, and (iii) the advice and treatments offered. The themes mapped onto four frames or models for genetic testing: (i) clinical genetics, (ii) medicine, (iii) intermediate, and (iv) lifestyle. We suggest that the genomics researchers and policy makers appeared to perform what Gieryn (Gieryn, T.F. (1983). Boundary-work and the demarcation of science from non-science: strains and interests in professional ideologies of scientists. American Sociological Review, 48, 781-795.) has termed "boundary work", i.e., to delegitimize the tests as outside proper medicine and science. Yet, they legitimated them, though in a different way, by defining them as lifestyle, and we contend that the transformation of the boundaries of science into a creation of such hybrid or compromise categories is symptomatic of current historical times. Social scientists studying medicine have referred to the emergence of "lifestyle" products. This article contributes to this literature by examining the historical, regulatory and marketing processes through which certain goods and services become defined this way.

[Public health genetics. Fundamental rights aspects]. / Public Health Genetics. Grundrechtliche Aspekte.

The fundamental right of "informational self-determination" (protection of personal data) protects the individual against collection, storage, use and disclosure of her/his personal data - including genetic data - without her/his informed consent. However, in cases of overriding public interest, limitations of this right are deemed legitimate. Public health, expressly guaranteed in some German state constitutions, may constitute such overriding public interest and justify corresponding state measures as long as they respect the principle of proportionality.

Molecular medicine: how, what, and when?

Integrating molecular medicine into clinical practice will create many challenges. But the existing genetic testing paradigm may not be the right model for introducing these new technologies.

Integrating molecular medicine into the US health-care system: opportunities, barriers, and policy challenges.

Scientific support about the concept of using molecular data for risk stratification and tailoring health-care interventions to the individual--a strategy broadly defined as molecular medicine (MM)--is accumulating. Molecular-based health-care technologies are beginning to enter clinical practice, but their use has revealed many scientific, economic, and organizational barriers to the effective delivery of targeted health care. We conducted a qualitative interview study to describe the MM landscape, with an emphasis on eliciting policy recommendations for the field from a broad range of stakeholders in MM and health care. Molecular medicine has widespread support but will require changes in how molecular-based technologies are evaluated, how health care is financed and delivered, and how clinicians and consumers are trained and prepared for its use. In particular, researchers and developers need to become active participants in a variety of clinical integration strategies to realize the promise of MM.

Thalassemia treatment and prevention in Uva Province, Sri Lanka: a public opinion survey.

Due to its excessive cost thalassemia management is a major health care problem in Sri Lanka. The majority of doctors are using only desferrioxamine (DFO), in grossly inadequate doses mainly because of its unavailability. Deferiprone (L1), which is more affordable, is not used due to fear of toxicity, as previously reported. Arthropathy attributed to L1 has been observed in some patients, and has led to the discontinuation of the drug in all patients, without scientific rationale. The proposed thalassemia prevention project for Uva Province is based on prevention of marriages between carriers. This could be achieved by carrier screening and counseling of teenagers and adolescents well before they select their partners. In Sri Lanka, people find their marriage partners at their work place or universities, by themselves, or with the help of professional marriage brokers (they are called Kapuwa), through relatives and close friends. This process of finding a partner may also be helped by paper advertisements. However, in addition to the appearance and attitude of the prospective partner, the caste, social background and horoscope are major considerations in selecting a partner. Even when they select partners on their own at the work place or university, they keep these factors in the back of their minds to ensure social acceptance. Many relationships are given up due to objections and advice from parents when the caste or social background does not match. A horoscope is a written document that almost every child gets, written by a professional horoscope reader and depending on the time of birth. It is believed, according to the horoscope, that a person's attitudes, desires, future prospects of finding a suitable partner, could be predicted. It is rare to proceed with a marriage if the horoscope does not match. These customs are considered less seriously among educated people when they find their partner at the work place or university. The concept of thalassemia risk-free marriages advocates promotion of marriages where at least one partner is a non-carrier. Success of such a project could be monitored at the time of marriage. This opinion survey indicates that the public is motivated to promote carrier screening and the prevention of thalassemia.

Insurance companies' access to genetic information: why regulation alone is not enough.

The background of this paper is the ongoing dismantling of the social insurance systems in favour of commercialisation and privatisation of insurances needed for illness, old age and premature death. This combined with the increased possibility of using genetic testing for differentiating personal insurance premiums has the potentiality of creating a 'genetic proletariat'--an uninsurable high-risk population. The common way of handling this problem in Sweden, and many other developed countries around the North Atlantic, has been to regulate insurance companies' right to ask for and use genetic information in various ways. There is a distinction between partial regulation (that allows insurance companies access to genetic information from genetic tests already made, sometimes only above a specified amount, but not to demand new tests) and total regulation (that forbids insurance companies to ask for or use any genetic information). I will argue that these forms of regulation probably will have adverse consequences given the dismantling of collective social insurance systems. If this is convincing, a better way to solve the problem of an uninsurable high-risk population (and other problems) is to resurrect the collective, obligatory insurance systems in which the individual risk profile does not constitute a basis for premium determination. Both arguments cast in terms of consequences and justice render support for this conclusion.

Prenatal screening and its impact on persons with disabilities.

PIP: A lawyer from the World Institute on Disability uses a disability perspective to explore some policy effects of prenatal screening. This perspective is grounded in life experiences of persons with disabilities who hold academic, scientific, and social positions that allow them the opportunity to share their on the value of living with a disability. Society must first clarify what goals it wants to attain before it considers the effectiveness of prenatal screening. If society wants to save future humans from suffering a terrible quality of life, it must be confident that a link exists between predictable genetic consequences and a negative life experience. If the goal is to deal with economic or social disadvantages related to genetic disabilities, society should at least study whether methods other than prenatal screening can achieve this goal and society should scrutinize these alternatives. Even though the disability rights movement acknowledges economic and social disadvantages, it also knows that many persons with disabilities have satisfying jobs, happy family situations, and various community roles. Thus, the disadvantages can be eliminated without getting rid of persons with disabilities. Advocacy for civil rights protection, legislation to eliminate environmental obstacles, agendas to promote and make available technology, and more effective social support programs are ways the disability rights movement tries to remove social and economic barriers. Prenatal screening seems to not match the goals of the movement. Further, many of its leaders challenge its value and ethical basis. Some people view prenatal screening as a technology that is advancing without a firm foundation in social policy. The constant growth of information about human genetics makes it more complex to address the value and ethical questions. Society must incorporate persons with disabilities into prenatal diagnosis research and examination of policy alternatives. The disability community wants to contribute to the discussion.^ieng