screening is a screening of asymptomatic population to identify persons who have (arguably) a given genotype. We will take for our study the definition of the Dutch Health Council:, according to which genetic screening is an examination carried out on human beings for purposes of screening or early systematic exclusion of hereditary disease, predisposition to this disease or the porting of this predisposition that may induce a hereditary disease affecting the offspring, regardless of the type of examination whereby this is achieved. This definition includes therefore the three distinctive features of the genetic screening:
- it’s a hereditary illness (predisposition or carrier status);
- It is not a request of assistance on the part of the persons concerned;
- It is a systematic approach to the target group in the field of genetics.
A genetic screening is distinguished from an ‘ordinary’ medical screening by three aspects; first of all if, in both cases, identification of persons at risk can lead to the identification of others at risk during a screening medical (ordinary) the link between these people often means a physical proximity (contact), while in the case of a genetic screening, it is a genetic closeness (kinship). then, in the case of a medical screening, there is concern above all the health and well-being of the participant, while in the case of a genetic screening,the concern is primarily children of participants.
For the target group, receive a genetic screening application is always synonymous with difficult decisions. Indeed, the persons concerned are not the origin of this request; they are consulted for an analysis of conditions, which they had so far no experience of. If the availability of reliable genetic testing is an important condition, it remains insufficient to take the decision to use a genetic screening. Other considerations also play an important role:
- The target group is quite informed and individuals have a free choice whether to participate, on an equal basis (ethical issues)?
- Are we sufficiently attentive to the fear that may stimulate the offer of a genetic screening and its result? What are the benefits of the result of the test on the personal experience and family relationships (psychological issues)?
- Who has access to these results?
- What is the scope of economic and social genetic screening?
- Is there any risk of jeopardising access to labour and insurance?
- Specifically, how and when will you realize it (social issues)?
All these questions and these criteria provide the framework for assessment of genetic screening.
To make our study more focused, we shall confine ourselves in this analysis looking for cystic fibrosis genetic carrier status. Screened carriers who went through a test of this type are not ill but are at increased risk of having a child with a particular genetic disease. This type of screening is the interest; Indeed, if we are studying families in which there are already cases of patients suffering from a specific disease (this is the so-called retrospective screening), only a small portion of the carriers can be identified, while most children with a recessive genetic disease unrelated to sex are born in families have not yet been in contact with the disease in question. Thanks to the (prospective) genetic screening for carrier status, it is possible, before the birth of their first child, to inform individuals and couples on the risk of having a child with affection. In this regard, the most frequently cited disease is cysticfibrosis.
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