May 2008

Short summary of the activities of last year by the Geneskin ethics subgroup

On our way to an ethical statement for genetic counselling we decided to actively involve the patients’ and the physicians’ view in this process. Therefore we elaborated two different questionnaires for patients organisations and for the Geneskin-physicians.
Our conference which took place at 24th of September 2007 in Vienna had the purpose to work out a first draft of an ethical statement concerning genetic counselling. Each member of the ethics subgroup prepared an article with different aspects in the field of rare genetic skin diseases as well as the genetic counselling process in particular. On the basis of the results of the questionnaire (there have participated 8 physicians and 8 patients organisations) and after having discussed the different statements of our members we finally managed to formulate the first draft. These “ethical considerations” have now already been finished and they are available on the Geneskin Homepage.
Furthermore there have been established contacts with some patients organisations, especially with ED Germany/Austria. In order to improve public relation of the Geneskin project we have prepared a summary of the activities and the idea of the Geneskin project for the homepages of the organisations. This summary is available in 5 languages (English, French, German, Italian, Swedish).

Ethical statement Geneskin (downloadable version)

December 2006

Kick-off-conference of the Geneskin-network of ethical experts in Salzburg 2006

The first conference of the network of ethical experts took place in Salzburg, October 16th to 18th (programme). It was dedicated to a first personal encounter and exchange of knowledge between seven ethical experts and Geneskin-representatives. After a profound introduction to the field of genodermatoses (see programme) the ethical experts identified the ethical issues which are going to be debated in the next future. At the same time they agreed on a kind of work division (see list below).
All ethical experts and dr. Giovanna Zambruno agreed that general ethical debates should be closely linked with the specific problems within the field of genodermatoses. Therefore the ethical experts rely on the willingness of all Geneskin-scientists to exchange knowledge in an interdisciplinary dialogue. Finally, the ethical experts intend to work out concrete recommendations for the Geneskin-scientists, at least for some ethical issues. To face this challenge the ethical experts agreed on the following procedure:
In the next weeks the ethical experts are going to prepare a catalogue of precise questions and the call for case reports which will be distributed to the Geneskin-scientists.
Each ethical expert will prepare a statement/report on a specific ethical topic (see list below).
In September 2007 the ethical experts will hold a conference in Vienna, discussing the statements. At this conference they will try to formulate concrete recommendations for the Geneskin-scientists and for further professional committees which might be interested.
In spring of 2008 representatives of the ethical experts will participate in the last Geneskin-conference, presenting and discussing their recommendations again.

List of ethical issues

1) Prenatal counselling within the field of genodermatoses (Ainsley Newson and Angus Clarke)

• concepts of counselling and their consequences for genodermatoses:
• the special social burden for the patients
• the uncertainty of results (relation genotype-phenotype) and the uncertainty of decision-making
• family communication
• the question of ignorance and the right to know or not to know
• reproductive autonomy between families and health care professionals
• recommendations for the counselling process
• clarify competence and responsibility for genetic counselling between physicians, geneticists and psychologist

2) Genodermatoses as an example for a trial to make a distinction between mild and severe forms of diseases (Nikolaus Knoepffler)

• the possibility to make a distinction between mild and severe forms of genodermatoses
• discussion of subjective and objective criteria for a distinction  
• Which disease is severe enough to plead for a termination of pregnancy?
• the question of drawing the line and the slippery-slope-argument
• concepts of health and concepts of disease
• philosophical concepts of ‘good life’

3) The skin - interdisciplinary aspects (Gisela Badura-Lotter and Angelika Walser)

• phenomenological and interdisciplinary approach: What does the skin mean for human beings?
• Representation of the skin in art, literature and philosophy. Symbolic and moral meanings
• Skin and body concepts in feminist literature
• Patients’ self-perception of their skin: Role of aesthetical aspects for patients’ families and their social environment

4) Genodermatoses: Gene therapy and genetic research (Sigrid Graumann)

• risk – benefit – balance in different cases
• legimitation and condition of clinical trials
• research and the question of social justice in the context of health care system
• research secrecy
• general consent referring to databanks

5) Genodermatoses and Preimplantation Genetic Diagnosis (PGD - Guido Pennings)

• PGD: decision-making referring to genetic skin diseases
• Where is PGD available and do patients ask for it?
• the possibility of establishing a PGD-reference centre for genodermatoses
• case report