Pre-Implantation Genetic Diagnosis

In the last decade, preimplantation genetic testing (preimplantation genetic diagnosis [PGD] and preimplantation genetic screening [PGS]) have become widely used and in 2005 constituted 5 percent of all in vitro fertilization (IVF) cycles performed in Europe. Their diffusion, however, is not homogenous; while in some countries they are prohibited and in others hardly implemented, Spain performs 33 percent of all the PGD/PGS. While policy guidelines and mainstream bioethics address PGD from a patient choice perspective, disability studies insist on PGD’s potentiality for discrimination. Alternatively, other authors have explored PGD/PGS from the perspective of geneticization but little work has been done on how PGD/PGS are framed by the members of national regulatory bodies. Combining the analysis of juridical documents with semistructured interviews with members of the Spanish National Assisted Reproduction Committee (CNRHA), this study suggests that the remarkable diffusion of PGD/PGS in Spain may be largely due to the interaction between the growing momentum enjoyed by embryonic stem cell research and a vibrant expansion of IVF business along the Mediterranean coast. In this process, genetic issues per se seem to play a minor role, although the prevention of genetic diseases now constitutes the master narrative underpinning the extension of PGD from monogenic, early onset, diseases to polygenic, late-onset, ones.

En interdisant le diagnostic préimplantatoire alors qu’elle tolère l’avortement thérapeutique, la législation italienne manque de cohérence interne. Cette incohérence entre des dispositions non contraires en elles-mêmes à la Convention rend disproportionnée l’impossibilité pour un couple de porteurs sains d’une maladie génétique de procréer artificiellement, et constitue une violation de leur vie privée et familiale, laquelle pourrait comporter un « droit de mettre au monde un enfant qui ne soit pas affecté par la maladie dont ils sont porteurs sains ».

Genetik analiz testleri sağlık alanında biyoteknoloji uygulamalarının
önemli bir basamağını oluşturmaktadır. Hamilelik ve üreme ile ilgili olarak
yapılan testler, Türkiye gibi yarı-feodal ve ataerkil yapıya sahip bir toplum
için düşünüldüğünde, bu uygulamaların dikkat çeken bir yönünü meydana
getirmektedir.
Bu çalışmada Ankara'nın iki farklı sosyoekonomik yapıya sahip
semti olan Kavaklıdere ve Mamak bölgelerinde yaşayan insanların, genetik
analiz testlerinin üreme biyoteknolojisinde kullanımı ve bu testler dolayısıyla
ortaya çıkması mümkün olan toplumsal sorunlar hakkındaki algı ve görüşleri
değerlendirilmiştir. Üreme biyoteknolojisinde kullanılan genetik analiz
testlerinin neden olabileceği ve çalışmada yer alan sorunlardan bazıları
şunlardır: PGT teknolojisiyle cinsiyet seçimi yaygınlaşırsa cinsiyetler arası
dengesizlikler oluşabilir. Cinsiyet veya sağlık nedenlerinden hareketle kürtaj
olaylarında artışlar görülebilir. Anne ve babaların keyfi tercihlerine bağlı
olarak gerçekleşebilecek özel nitelikte bebek seçimi dolayısıyla öjeni
yaratılabilir.
Çalışmanın amacı, insanların üreme biyoteknolojisinin yeniliklerine
ne kadar hazır veya tepkili olduklarının anlaşılmasıdır. Çalışmada
değerlendirilen grubun üreme biyoteknolojisinde kullanılan genetik testlere
karşı geliştirdikleri olumlu-olumsuz tutumlarının, endişelerinin ve düşüncelerinin
yaşadıkları semtlere göre farklılıklar gösterdiği ortaya çıkmıştır.
Anahtar Kelimeler: Biyoteknoloji, Sosyoekonomik yapı, Genetik
Analiz Testleri, Pre-implantasyon Genetik Tanı, Öjeni.
Socio-economical Differences and an Overwiev of genetic
Testing of Reproductive Biotechnology: A Comparison of Two Different
District
ABSTRACT
Genetic testing occupies an important phase of biotechnology
application in the health sector. The tests that is made for the pregnancy and
related subject with reproduction constitutes a striking side of these
applications when it is thought in the context of so called as semi-feudal and
patriarchal structure of societies like Turkey.
In this study, the perceptions and conceptions of indigenous people
of Kavaklıdere and Mamak, as the example of two different socio-economic
structured districts of Ankara, about the usage of genetic tests in the field of
reproductive biotechnology and the social problems that might occur due to
these tests, have been evaluated. Some of the social problems that can
appear by using these tests in reproductive field and take place in this study
are: If the sex selection by PID becomes widespread, there can be
intersexes' inequalities. There can be an increase in abortions depends on
the sex determining or health reasons. Eugenics can be caused by
determining the nature of a baby according to its parent's arbitrary desire.
The aim of this study is to make apparent the readiness or reactive
ness of ordinary people about reproductive biotechnology. It is found in this
study that there are some differences in the negative-positive perceptions,
anxieties, and conceptions of evaluated people about genetic testing used in
the field of reproductive biotechnology.
Key Words: Biotechnology, Socioeconomic Structure, Genetic
Testing, Special Characterized Baby Selection, Pre-implantation Genetic
Diagnosis, Eugenics.

In the Family Law autonomy has been guaranteed to parents for the realization of free family planning based on responsible parenthood and the dignity of the human person. With advances in assisted human reproduction techniques the possibility of embryo selection has emerged, one of the techniques used in assisted human reproduction is called "siblings savior", a procedure by which the embryos are selected through a double pre-implantation genetic diagnosis, to be free from genetic failures and at the same time compatible with older siblings who need haematopoietic stem cell transplantation. Thus, this article aims to analyze the controversy surrounding the "baby drug" and the physical and psychic impacts of this procedure and its ethical limits, especially because it involves controversial topics such as eugenics, the issue of organ and tissue transplantation by minors and, on the other hand, represents a healing opportunity for siblings who have a serious illness. For that, the theoretical method of approach was used, opting for the bibliographical review and the legislative analysis.

On June 7th 2011, the second section of the European Court of Human Rights (ECHR) has communicated to the Italian government the case Rosetta Costa and Walter Pavan v. Italy (no. 54270/10) challenging the ban of pre-implantation genetic diagnosis in Italy.
In collaboration with the ‘Movimento per la vita italiana’ and fifty-two Italian MPs including Messrs. Rocco Buttiglione, Carlo Casini and Luca Volonte, the ECLJ has been granted leave by the Court on August 31st 2011 to intervene in the proceedings and to submit written observations.

La deuxième Section de la Cour européenne des droits d’homme (CEDH) a rendu public aujourd’hui son premier arrêt relatif à l’accès au diagnostic préimplantatoire (D.P.I.), c’est-à-dire à la technique de dépistage et de sélection d’embryons fécondés in vitro en vue de la procréation d’un enfant non atteint les caractères génétiques considérés. Il résulte de cet arrêt que l’accès au DPI peut être de fait considéré en Europe comme un droit, un droit garantit de façon indirecte par la Convention européenne des droits de l’homme. Cet arrêt n’est pas définitif et est susceptible de renvoi devant la Grande Chambre pour réexamen.

On 28 August 2012, the second section of the European Court of Human Rights issued its first judgment concerning access to pre-implantation genetic diagnosis (PGD). This technique of screening and selection of embryos conceived in vitro aims at giving birth to a child who is not suffering from a genetic disease. It stems from this judgment that access to PGD may de facto be considered a human right in Europe, a right indirectly guaranteed by the European Convention on Human Rights. This judgment is not final; the Italian Government already announced that it will request the referral of the case before the Grand Chamber for reconsideration.

Scientific discoveries, developments in medicine and health issues are the constant focus of media attention and the principles surrounding the creation of so called ‘saviour siblings’ are of no exception. The development in the field of reproductive techniques has provided the ability to genetically analyse embryos created in the laboratory to enable parents to implant selected embryos to create a tissue-matched child who may be able to cure an existing sick child.

The research undertaken in this thesis examines the regulatory frameworks overseeing the delivery of assisted reproductive technologies (ART) in Australia and the United Kingdom and considers how those frameworks impact on the accessibility of in vitro fertilisation (IVF) procedures for the creation of ‘saviour siblings’. In some jurisdictions, the accessibility of such techniques is limited by statutory requirements. The limitations and restrictions imposed by the state in relation to the technology are analysed in order to establish whether such restrictions are justified.

The analysis is conducted on the basis of a harm framework. The framework seeks to establish whether those affected by the use of the technology (including the child who will be created) are harmed. In order to undertake such evaluation, the concept of harm is considered under the scope of John Stuart Mill’s liberal theory and the Harm Principle is used as a normative tool to judge whether the level of harm that may result, justifies state intervention or restriction with the reproductive decision-making of parents in this context.

The harm analysis conducted in this thesis seeks to determine an appropriate regulatory response in relation to the use of pre-implantation tissue-typing for the creation of ‘saviour siblings’. The proposals outlined in the last part of this thesis seek to address the concern that harm may result from the practice of pre-implantation tissue-typing. The current regulatory frameworks in place are also analysed on the basis of the harm framework established in this thesis.

The material referred to in this thesis reflects the law and policy in place in Australia and the UK at the time the thesis was submitted for examination (December 2009).