Gene+Screening

Genetic Screening is a procedure of identifying as well as selecting indivduals who posses a specific phenotype of their interest. Screening is also a way of testing and "screening" for genetic mutations leading to genetic diseases. Genetic testing is the analysis of DNA, RNA, chromosomes, proteins as well as certain metabolites. It can provide information about a person's genes and chromosomes throughout life. The most basic genetic screening consists of looking at specific phenotype of interest.

Screening programs are very important part of the health care system for it aims to help people maintain good health and to treat disease as well. The most common ones are the screening for all pregnant women for their rhesus blood group and all newborn infants for phenylketonuria (PKU).

Genetic screening programs are not a new development.Since the 1960s pregnant women have been routinely tested for their **rhesus blood group**, so that damage to babies of rhesus negative women before and after birth can be prevented. Damage is prevented by ensuring that rhesus negative women are given an antibody within a few hours of delivery, miscarriage or abortion. Since 1973 it has been policy to screen all newborn babies in the UK for **phenylketonuria (PKU)**. Severe mental retardation is characteristic of this disease, but can be prevented if dietary treatment is started in the first weeks of life. These two tests have now become an accepted part of primary health care, and are essentially genetic screening programs.

However, there are more newborn screening options such as testing infants for **congenital hypothyroidism** which is a disorder of the thyroid gland.Firstly, the word congenital merely means disorders that can be recognized before birth, in other words, prenatally, at birth or even many years later.Congenital disorders is actually a broad category that consists of various conditions: birth defect, congenital physical anomaly, congenital malformation, all genetic diseases & congenital metabolic disease. Congenital hypothyroidism falls under the **congenital metabolic diseases** which is also commonly known as inborn error of metabolism that are generally heritable single gene mutations that affect the function of specific body parts. Hypothyroidism is the disease that is caused by an insufficient production of thyroid hormones through the thyroid gland.The thyroid gland is a large endocrine gland that is situated in the neck and produces hormones that regulate the rate of metabolism and severally affects growth and rates of function of many other crucial systems in the body that are profoundly important for an infant. There is also a specific hormone produced called the calcitonin that produces and controls calcium blood levels which again are crucial to an infants growth.

Genetic screening offers a number of potential benefits to individuals, families and society, which includes (a) the identification of treatable genetic disorders at an early stage, (b) giving couples the possibility of making informed choices about parenthood and (c) identifying genetic susceptibility to common serious diseases. Nonetheless, it is important to note that these prenatal screenings cannot identify all the possibilities of inherited diseases from the parents to the child or birth defects.

The goals for genetic screening are (i) contribute to improving the health of persons who suffer from genetic disorders; and/or (ii) Allow carriers for a given abnormal gene to make informed choices regarding reproduction; and/or (iii) move towards alleviating the anxieties of families and communities faced with the prospect of serious genetic disease.

Screening might in principle lead to a reduction in the incidence of occupational disease. This, if it became feasible, might in turn lead to a reduction in the burden both on the health care system in terms of treatment and also on the social welfare system. On the other hand, if some people were, in the future, entirely excluded from the labor market as a result of genetic screening, the Government would need to review their position, taking into account experience of employment policy and the disabled. It is already accepted that people with certain diseases may be debarred from certain occupations. For example, sufferers from epilepsy cannot obtain an HGV licence. Genetic screening may make it possible in the future to identify individuals with a high risk of developing late onset serious conditions. There would be a public interest in such results only if the individual concerned both was in an occupation that put third parties at risk and also was at risk for a condition with a sudden and unpredictable onset. But the public interest is not solely concerned with potential benefits. There is the danger that genetic screening could lead to discrimination against those with a genetic disease. Such discrimination could be based on fear, prejudice and misunderstanding or other irrational grounds unrelated to the needs of the employer, leading to the possibility of widespread genetic discrimination, with its attendant social and economic costs. There is in this country no legal protection against genetic discrimination. In some cases, as we shall consider, it may be possible to argue that any such discrimination would be unlawful under either or both the Sex Discrimination Act 1975 or the Race Relations Act 1976. Discrimination on grounds other than those expressly forbidden by these Acts may well also be against the public interest.
 * __Concerning the public interest__**

source:: http://www.nuffieldbioethics.org/fileLibrary/pdf/genetic_screening.pdf